Mouse genetic corneal disease resulting from transgenic insertional mutagenesis

PubMed Central

Ramalho, J S; Gregory-Evans, K; Huxley, C; Seabra, M C

2004-01-01

Background/aims: To report the generation of a new mouse model for a genetically determined corneal abnormality that occurred in transgenesis experiments. Methods: Transgenic mice expressing mutant forms of Rab27a, a GTPase that has been implicated in the pathogenesis of choroideremia, were generated. Results: Only one transgenic line (T27aT15) exhibited an unexpected eye phenotype. T27aT15 mice developed corneal opacities, usually unilateral, and cataracts, resulting in some cases in phthisical eyes. Histologically, the corneal stroma was thickened and vacuolated, and both epithelium and endothelium were thinned. The posterior segment of the eye was also affected with abnormal pigmentation, vessel narrowing, and abnormal leakage of dye upon angiography but was histologically normal. Conclusion: Eye abnormality in T27aT15 mice results from random insertional mutagenesis of the transgene as it was only observed in one line. The corneal lesion observed in T27aT15 mice most closely resembles posterior polymorphous corneal dystrophy and might result from the disruption of the equivalent mouse locus. PMID:14977782

Excessive ingestion of long-chain polyunsaturated fatty acids during developmental stage causes strain- and sex-dependent eye abnormalities in mice.

PubMed

Maekawa, Motoko; Iwayama, Yoshimi; Watanabe, Akiko; Nozaki, Yayoi; Ohnishi, Tetsuo; Ohba, Hisako; Toyoshima, Manabu; Hamazaki, Kei; Osumi, Noriko; Aruga, Jun; Yoshikawa, Takeo

2010-11-12

The eyes are rich in long-chain polyunsaturated fatty acids (LC-PUFAs) such as arachidonic acid [ARA; 20:4 (n-6)] and docosahexaenoic acid [DHA; 22:6 (n-3)]. Despite their abundance in the eyes, ARA and DHA cannot be sufficiently synthesized de novo in mammals. During gestation, eye development is exceptionally rapid, and substantial amounts of LC-PUFAs are needed to ensure proper eye development. Here, we studied the influences of dietary LC-PUFAs in dams (C57BL/6 and C3H/He) on the eye morphogenesis and organogenesis of their pups. Intriguingly, fetuses and newborn mice from C57BL/6 dams fed an LC-PUFA (particularly ARA)-enriched diet displayed a much higher incidence of eye abnormalities such as microphthalmia (small eye) and corneal opacity than those from dams fed an LC-PUFA-poor diet. The effects of LC-PUFAs on eye anomalies were evident only in the female pups of C57BL/6 inbred mice, not in those of C3H/He mice or male C57BL/6 mice. These results demonstrate a gene-by-environment (GxE) interaction in eye development in mice. Furthermore, our molecular analysis suggested the potential roles of Pitx3 and Pax6 in the above interaction involving ARA. Copyright © 2010 Elsevier Inc. All rights reserved.

Anterior segment photography in pediatric eyes using the Lytro light field handheld noncontact camera.

PubMed

Marcus, Inna; Tung, Irene T; Dosunmu, Eniolami O; Thiamthat, Warakorn; Freedman, Sharon F

2013-12-01

To compare anterior segment findings identified in young children using digital photographic images from the Lytro light field camera to those observed clinically. This was a prospective study of children <9 years of age with an anterior segment abnormality. Clinically observed anterior segment examination findings for each child were recorded and several digital images of the anterior segment of each eye captured with the Lytro camera. The images were later reviewed by a masked examiner. Sensitivity of abnormal examination findings on Lytro imaging was calculated and compared to the clinical examination as the gold standard. A total of 157 eyes of 80 children (mean age, 4.4 years; range, 0.1-8.9) were included. Clinical examination revealed 206 anterior segment abnormalities altogether: lids/lashes (n = 21 eyes), conjunctiva/sclera (n = 28 eyes), cornea (n = 71 eyes), anterior chamber (n = 14 eyes), iris (n = 43 eyes), and lens (n = 29 eyes). Review of Lytro photographs of eyes with clinically diagnosed anterior segment abnormality correctly identified 133 of 206 (65%) of all abnormalities. Additionally, 185 abnormalities in 50 children were documented at examination under anesthesia. The Lytro camera was able to document most abnormal anterior segment findings in un-sedated young children. Its unique ability to allow focus change after image capture is a significant improvement on prior technology. Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

Cranial mononeuropathy III

MedlinePlus

... is one of the cranial nerves that control eye movement. Causes may include: Brain aneurysm Infections Abnormal blood ... show: Enlarged (dilated) pupil of the affected eye Eye movement abnormalities Eyes that are not aligned Your health ...

Non-Invasive Evaluation of Corneal Abnormalities Using Static and Dynamic Light Scattering

NASA Technical Reports Server (NTRS)

Ansari, Rafat R.; Misra, Anup K.; Leung, Alfred B.; King, James F.; Datiles, Manuel B., III

2002-01-01

A preliminary study of corneal abnormalities in intact bovine eyes is presented. Twenty-one eyes were treated with chemicals, cotton swabs, and radial and photo-refractive surgeries. Dynamic and static light scattering was performed as a function of the penetration depth into the corneal tissue. Topographical maps of corneal refractive power from untreated and treated corneas were also obtained using videokeratoscopy and results compared. The ultimate aim is to develop the technique of dynamic light scattering (DLS) for clinical applications in early evaluation of corneal complications after laser-assisted in situ keratomileusis (LASIK) surgeries and other corneal abnormalities.

Noninvasive evaluation of corneal abnormalities using static and dynamic light scattering

NASA Astrophysics Data System (ADS)

Ansari, Rafat R.; Misra, Anup K.; Leung, Alfred B.; King, James F.; Datiles, Manuel B., III

2002-06-01

A preliminary study of corneal abnormalities in intact bovine eyes is presented. Twenty-one eyes were treated with chemicals, cotton swabs, and radial and photo-refractive surgeries. Dynamic and static light scattering was performed as a function of the penetration depth into the corneal tissue. Topographical maps of corneal refractive power from untreated and treated corneas were also obtained using videokeratoscopy and results compared. The ultimate aim is to develop the technique of dynamic light scattering (DLS) for clinical applications in early evaluation of corneal complications after laser-assisted in situ keratomileusis (LASIK) surgeries and other corneal abnormalities.

A thermographic study on eyes affected by Age-related Macular Degeneration: Comparison among various forms of the pathology and analysis of risk factors

NASA Astrophysics Data System (ADS)

Matteoli, Sara; Finocchio, Lucia; Biagini, Ilaria; Giacomelli, Giovanni; Sodi, Andrea; Corvi, Andrea; Virgili, Gianni; Rizzo, Stanislao

2016-05-01

The aims of this study are to investigate (1) the ocular thermographic profiles in eyes affected by Age related Macular Degeneration (AMD) and age-matched controls to detect possible hemodynamic abnormalities that could be involved in the pathogenesis of the disease, (2) whether any risk factors associated with the disease could affect the development of a form of AMD rather than another. Thirty-four eyes with Age-Related Maculopathy (ARM), 41 eyes with dry AMD, 60 eyes affected by wet AMD, and 74 eyes with fibrotic AMD were included in the study. The control group consisted of 48 healthy eyes. Exclusion criteria were represented by any other ocular diseases other than AMD, tear film abnormalities, systemic cardiovascular abnormalities, systemic diseases and a body temperature higher than 37.5 °C. A total of 210 eyes without pupil dilation were investigated by infrared thermography (FLIR A320). The Ocular Surface Temperature (OST) of five ocular areas was calculated by means of an image processing technique from the infrared images. Two-sample t-test, one-way ANOVA test and multivariate analysis were used for statistical analyses. ANOVA analyses showed no significant differences among AMD groups (P-value > 0.05), however, OST in AMD patients was significantly lower than in controls (P-value < 0.0001). Smokers showed higher possibility (P-value = 0.012) of developing wet AMD instead of dry AMD. Infrared thermography may be a helpful, non-invasive and not time-consuming method to be used in the management of patients with this common degenerative maculopathy.

In vivo laser scanning confocal microscopy of the cornea in patients with silicone oil tamponade after vitreoretinal surgery.

PubMed

Le, Qihua; Wang, Xin; Lv, Jiahua; Sun, Xinghuai; Xu, Jianjiang

2012-08-01

To evaluate the morphological changes in the cornea by in vivo laser scanning confocal microscopy (LSCM) in a large case series with silicone oil endotamponade after vitreoretinal surgery and to explore the value of LSCM in the early detection of silicone keratopathy (SK). Ninety-nine patients (99 eyes) with silicone oil endotamponade after vitreoretinal surgery were included in the current study. Slit-lamp examination and measurement of intraocular pressure (IOP) were performed first. Then the central corneas of the subjects' eyes were examined by in vivo LSCM. The analysis of images of each corneal layer was performed and the endothelial cellular density (ECD), endothelial cellular area (ECA), coefficient of variation of cell size (CoV), and percentage of hexagonal cells (PHC) were measured. Moreover, the total size of stromal deposits was measured, and the correlation between the size of deposits and the parameters of endothelial cells was analyzed. Clinically recognizable abnormalities involving the cornea were identified in only 12 eyes (12.1%) under slit-lamp biomicroscopy, whereas in vivo LSCM revealed morphological abnormalities in 40 eyes (40.4%). The manifestations of endothelial lesions varied from decreased cellular density, increased polymegathism and pleomorphism to hyperreflective silicone oil membrane or droplets adhering to the endothelium. Moreover, hyperreflective deposits with various shapes could be identified in both posterior and anterior stroma, along with the infiltration of Langerhans cells beneath the epithelium. The average ECD and PHC of eyes with corneal abnormalities were significantly lower than those of normal corneas, whereas the average ECA and CoV were significantly larger (all Ps < 0.001). The patients with corneal abnormalities were significantly older than those others (P = 0.003). The rate of pseudophakic and aphakic eyes having corneal abnormalities was significantly higher than that of phakic eyes (P = 0.045). Interestingly, the total size of stromal deposits had a significant negative correlation with ECD and PHC but a significant positive correlation with ECA and CoV (all Ps < 0.001). Further correlation analysis performed in groups divided according to the lens status showed similar results and even stronger correlations in aphakic and pseudophakic eyes, whereas no statistically significant correlations were found in phakic eyes. In vivo LSCM was a useful tool in the early detection of corneal abnormalities caused by silicone oil injection, including varying corneal endothelium lesions and stromal abnormalities. Pseudophakic or aphakic eyes, as well as those of older patients, should receive more attention because they are more inclined to develop silicone keratopathy.

Computer-Aided Diagnosis of Anterior Segment Eye Abnormalities using Visible Wavelength Image Analysis Based Machine Learning.

PubMed

S V, Mahesh Kumar; R, Gunasundari

2018-06-02

Eye disease is a major health problem among the elderly people. Cataract and corneal arcus are the major abnormalities that exist in the anterior segment eye region of aged people. Hence, computer-aided diagnosis of anterior segment eye abnormalities will be helpful for mass screening and grading in ophthalmology. In this paper, we propose a multiclass computer-aided diagnosis (CAD) system using visible wavelength (VW) eye images to diagnose anterior segment eye abnormalities. In the proposed method, the input VW eye images are pre-processed for specular reflection removal and the iris circle region is segmented using a circular Hough Transform (CHT)-based approach. The first-order statistical features and wavelet-based features are extracted from the segmented iris circle and used for classification. The Support Vector Machine (SVM) by Sequential Minimal Optimization (SMO) algorithm was used for the classification. In experiments, we used 228 VW eye images that belong to three different classes of anterior segment eye abnormalities. The proposed method achieved a predictive accuracy of 96.96% with 97% sensitivity and 99% specificity. The experimental results show that the proposed method has significant potential for use in clinical applications.

Case control study of dry eye and related ocular surface abnormalities in Ibadan, Nigeria.

PubMed

Bekibele, C O; Baiyeroju, A M; Ajaiyeoba, A; Akang, E E U; Ajayi, B G K

2010-02-01

Tear instability is associated with symptoms of ocular discomfort and irritation. Many patients with dry eyes remain untreated due to improper diagnoses. To identify symptoms and surface abnormalities associated with dry eyes. One hundred and fifty-six eyes of 78 subjects attending the Eye Clinic of the University College Hospital Ibadan were screened for dry eyes/tear instability using rose Bengal stain (graded 0-9), tear break-up time (TBUT), Schirmer's 1 tests, tear meniscus height and a standardised symptoms questionnaire. Grades 4-9 rose Bengal staining were considered as positive dry eye and were compared with grades 0-3 staining eyes as negative controls. Mean tear meniscus height, Schirmer's test and TBUT were lower among cases than their corresponding control eyes. The difference between the mean Schirmer's test values of cases and their controls were statistically significant (P = 0.00 for right eyes and P = 0.002 for left eyes). Rose Bengal grades were inversely correlated with the mean Schirmer's values (Pearson correlation -0.429, P = 0.05 for right eyes and -0.335, P = 0.03 for left eyes) and TBUT (Pearson correlation -0.316, P = 0.05 for right eyes and -0.212, P = 0.06 for left eyes). About 95.8% of the cases were symptomatic, as opposed to 70.4% of the controls (P = 0.01, Fisher's exact test) and 95.8% of dry right eyes compared to 61.1% of their controls had ocular surface abnormalities (P = 0.001), while 89.5% of dry left eyes compared to 62.7% of controls had surface abnormalities (P = 0.07). A close relationship exists between ocular irritation symptoms, surface abnormalities and functional evidence of tear instability. Such patients should be treated empirically or screened for dry eyes.

In utero mouse embryonic imaging with OCT for ophthalmologic research

NASA Astrophysics Data System (ADS)

Syed, Saba H.; Larina, Irina V.; Dickinson, Mary E.; Larin, Kirill V.

2011-03-01

Live imaging of an eye during embryonic development in mammalian model is important for understanding dynamic aspects of normal and abnormal eye morphogenesis. In this study, we used Swept Source Optical Coherence Tomography (SS-OCT) for live structural imaging of mouse embryonic eye through the uterine wall. The eye structure was reconstructed in mouse embryos at 13.5 to 17.5 days post coitus (dpc). Despite the limited imaging depth of OCT in turbid tissues, we were able to visualize the whole eye globe at these stages. These results suggest that live in utero OCT imaging is a useful tool to study embryonic eye development in the mouse model.

pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish

PubMed Central

Liu, Yi; Semina, Elena V.

2012-01-01

Human PITX2 mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental disorder that involves ocular anterior segment defects, dental hypoplasia, craniofacial dysmorphism and umbilical abnormalities. Characterization of the PITX2 pathway and identification of the mechanisms underlying the anomalies associated with PITX2 deficiency is important for better understanding of normal development and disease; studies of pitx2 function in animal models can facilitate these analyses. A knockdown of pitx2 in zebrafish was generated using a morpholino that targeted all known alternative transcripts of the pitx2 gene; morphant embryos generated with the pitx2ex4/5 splicing-blocking oligomer produced abnormal transcripts predicted to encode truncated pitx2 proteins lacking the third (recognition) helix of the DNA-binding homeodomain. The morphological phenotype of pitx2ex4/5 morphants included small head and eyes, jaw abnormalities and pericardial edema; lethality was observed at ∼6–8-dpf. Cartilage staining revealed a reduction in size and an abnormal shape/position of the elements of the mandibular and hyoid pharyngeal arches; the ceratobranchial arches were also decreased in size. Histological and marker analyses of the misshapen eyes of the pitx2ex4/5 morphants identified anterior segment dysgenesis and disordered hyaloid vasculature. In summary, we demonstrate that pitx2 is essential for proper eye and craniofacial development in zebrafish and, therefore, that PITX2/pitx2 function is conserved in vertebrates. PMID:22303467

Extraocular muscle function testing

MedlinePlus

... may result in double vision or rapid, uncontrolled eye movements . Normal Results Normal movement of the eyes in all directions. What Abnormal Results Mean Eye movement disorders may be due to abnormalities of the ...

Wernicke-Korsakoff syndrome

MedlinePlus

... cause leg tremor Vision changes such as abnormal eye movements (back and forth movements called nystagmus), double vision , ... may show damage to many nerve systems: Abnormal eye movement Decreased or abnormal reflexes Fast pulse (heart rate) ...

Retinal toxicity related to hydroxychloroquine in patients with systemic lupus erythematosus and rheumatoid arthritis.

PubMed

Telek, Hande Husniye; Yesilirmak, Nilufer; Sungur, Gulten; Ozdemir, Yaprak; Yesil, Nesibe Karahan; Ornek, Firdevs

2017-12-01

To compare the retinal toxicity due to hydroxychloroquine (HCQ) use in patients with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) using multifocal electroretinography (mfERG), fundus autofluorescence (FAF) and optical coherence tomography (OCT). Patients who were using HCQ due to SLE and RA, and healthy subjects evaluated in this study. Central foveal thickness (CFT), inner-outer segment (IS-OS) junction irregularity, retinal nerve fiber layer thickness, mfERG and FAF measurements were performed to evaluate retinal toxicity. Study included 35 eyes of 35 SLE patients, 40 eyes of 40 RA patients and 20 eyes of 20 healthy subjects. In SLE group, retinal abnormality was found in three eyes with mfERG, in one eye with FAF and in four eyes with OCT. In RA group, retinal abnormality was found in 10 eyes with mfERG, in five eyes with FAF and in nine eyes with OCT. A statistically significant difference was found with respect to mfERG between "eyes with abnormal responses and without abnormal responses" and "eyes with abnormal responses and controls" (p < 0.05). A statistically significant difference was found with respect to CFT between "eyes with IS-OS junction irregularities and without IS-OS junction irregularities" and "eyes with/without IS-OS junction irregularities and controls" (p < 0.05). The use of HCQ seems to cause retinal toxicity more often in RA patients compared to SLE patients. For the early detection of retinal changes, OCT and mfERG can be used as screening tools due to their higher sensitivity rates compared to other tests.

Hyperosmolarity response of ocular standing potential as a clinical test for retinal pigment epithelium activity. Chorioretinal dystrophies.

PubMed

Yonemura, D; Kawasaki, K; Madachi-Yamamoto, S

1984-05-30

The hyperosmolarity response of the standing potential was recorded in retinitis pigmentosa (20 eyes), central (pericentral) retinitis pigmentosa (4 eyes), pigmented paravenous retinochoroidal atrophy (2 eyes), fundus albipunctatus (8 eyes), and Stargardt's disease (or fundus flavimaculatus) (14 eyes). The light peak/dark trough ratio (the L/D ratio) and the Diamox response were also determined. The hyperosmolarity response was greatly suppressed (less than M-4SD; M and SD indicate respectively the mean and the standard deviation in normal control subjects) in all examined eyes with retinitis pigmentosa (20 eyes) including retinitis pigmentosa sine pigmento (8 eyes), central (pericentral) retinitis pigmentosa (4 eyes), and pigmented paravenous retinochoroidal atrophy (2 eyes). The L/D ratio was larger than 1.26 (M-2.5 SD) in the half of the eyes with the above-described diseases. The hyperosmolarity response was abnormal (less than M-2 SD) in 4 of 8 eyes with fundus albipunctatus. The L/D ratio was normal in all 8 eyes. The hyperosmolarity response was abnormal (less than M-2 SD) in all 14 eyes with Stargardt's disease or fundus flavimaculatus. The L/D ratio was abnormal in 5 of these 14 eyes. The hyperosmolarity response was more frequently abnormal than the L/D ratio in the chorioretinal dystrophies mentioned above, and hence is useful particularly for early diagnosis of these disorders.

Hyperosmolarity response of ocular standing potential as a clinical test for retinal pigment epithelium activity chorioretinal dystrophies.

PubMed

Yonemura, D; Kawasaki, K; Madachi-Yamamoto, S

1984-05-01

The hyperosmolarity response of the standing potential was recorded in retinitis pigmentosa (20 eyes), central (pericentral) retinitis pigmentosa (4 eyes), pigmented paravenous retinochoroidal atrophy (2 eyes), fundus albipunctatus (8 eyes), and Stargardt's disease (or fundus flavimaculatus) (14 eyes). The light peak/dark trough ratio (the L/D ratio) and the Diamox response were also determined.The hyperosmolarity response was greatly suppressed (less than M-4SD; M and SD indicate respectively the mean and the standard deviation in normal control subjects) in all examined eyes with retinitis pigmentosa (20 eyes) including retinitis pigmentosa sine pigmento (8 eyes), central (pericentral) retinitis pigmentosa (4 eyes), and pigmented paravenous retinochoroidal atrophy (2 eyes). The L/D ratio was larger than 1.26 (M-2.5 SD) in the half of the eyes with the above-described diseases.The hyperosmolarity response was abnormal (less than M-2 SD) in 4 of 8 eyes with fundus albipunctatus. The L/D ratio was normal in all 8 eyes.The hyperosmolarity response was abnormal (less than M-2 SD) in all 14 eyes with Stargardt's disease or fundus flavimaculatus. The L/D ratio was abnormal in 5 of these 14 eyes.The hyperosmolarity response was more frequently abnormal than the L/D ratio in the chorioretinal dystrophies mentioned above, and hence is useful particularly for early diagnosis of these disorders.

Prevention of increased abnormal fundus autofluorescence with blue light-filtering intraocular lenses.

PubMed

Nagai, Hiroyuki; Hirano, Yoshio; Yasukawa, Tsutomu; Morita, Hiroshi; Nozaki, Miho; Wolf-Schnurrbusch, Ute; Wolf, Sebastian; Ogura, Yuichiro

2015-09-01

To observe changes in fundus autofluorescence 2 years after implantation of blue light-filtering (yellow-tinted) and ultraviolet light-filtering (colorless) intraocular lenses (IOLs). Department of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, and the Department of Ophthalmology, University of Bern, Bern, Switzerland. Prospective comparative observational study. Patients were enrolled who had cataract surgery with implantation of a yellow-tinted or colorless IOL and for whom images were obtained on which the fundus autofluorescence was measurable using the Heidelberg Retina Angiogram 2 postoperatively. The fundus autofluorescence in the images was classified into 8 abnormal patterns based on the classification of the International Fundus Autofluorescence Classification Group, The presence of normal fundus autofluorescence, geographic atrophy, and wet age-related macular degeneration (AMD) also was recorded. The fundus findings at baseline and 2 years postoperatively were compared. Fifty-two eyes with a yellow-tinted IOL and 79 eyes with a colorless IOL were included. Abnormal fundus autofluorescence did not develop or increase in the yellow-tinted IOL group; however, progressive abnormal fundus autofluorescence developed or increased in 12 eyes (15.2%) in the colorless IOL group (P = .0016). New drusen, geographic atrophy, and choroidal neovascularization were observed mainly in the colorless IOL group. The incidence of AMD was statistically significantly higher in the colorless IOL group (P = .042). Two years after cataract surgery, significant differences were seen in the progression of abnormal fundus autofluorescence between the 2 groups. The incidence of AMD was lower in eyes with a yellow-tinted IOL. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2015 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

Screening Criteria for Ophthalmic Manifestations of Congenital Zika Virus Infection.

PubMed

Zin, Andrea A; Tsui, Irena; Rossetto, Julia; Vasconcelos, Zilton; Adachi, Kristina; Valderramos, Stephanie; Halai, Umme-Aiman; Pone, Marcos Vinicius da Silva; Pone, Sheila Moura; Silveira Filho, Joel Carlos Barros; Aibe, Mitsue S; da Costa, Ana Carolina C; Zin, Olivia A; Belfort, Rubens; Brasil, Patricia; Nielsen-Saines, Karin; Moreira, Maria Elisabeth Lopes

2017-09-01

Current guidelines recommend screening eye examinations for infants with microcephaly or laboratory-confirmed Zika virus infection but not for all infants potentially exposed to Zika virus in utero. To evaluate eye findings in a cohort of infants whose mothers had polymerase chain reaction-confirmed Zika virus infection during pregnancy. In this descriptive case series performed from January 2 through October 30, 2016, infants were examined from birth to 1 year of age by a multidisciplinary medical team, including a pediatric ophthalmologist, from Fernandes Figueira Institute, a Ministry of Health referral center for high-risk pregnancies and infectious diseases in children in Rio de Janeiro, Brazil. Mother-infant pairs from Rio de Janeiro, Brazil, who presented with suspected Zika virus infection during pregnancy were referred to our institution and had serum, urine, amniotic fluid, or placenta samples tested by real-time polymerase chain reaction for Zika virus. Description of eye findings, presence of microcephaly or other central nervous system abnormalities, and timing of infection in infants with confirmed Zika virus during pregnancy. Eye abnormalities were correlated with central nervous system findings, microcephaly, and the timing of maternal infection. Of the 112 with polymerase chain reaction-confirmed Zika virus infection in maternal specimens, 24 infants (21.4%) examined had eye abnormalities (median age at first eye examination, 31 days; range, 0-305 days). Ten infants (41.7%) with eye abnormalities did not have microcephaly, and 8 (33.3%) did not have any central nervous system findings. Fourteen infants with eye abnormalities (58.3%) were born to women infected in the first trimester, 8 (33.3%) in the second trimester, and 2 (8.3%) in the third trimester. Optic nerve and retinal abnormalities were the most frequent findings. Eye abnormalities were statistically associated with microcephaly (odds ratio [OR], 19.1; 95% CI, 6.0-61.0), other central nervous system abnormalities (OR, 4.3; 95% CI, 1.6-11.2), arthrogryposis (OR, 29.0; 95% CI, 3.3-255.8), and maternal trimester of infection (first trimester OR, 5.1; 95% CI, 1.9-13.2; second trimester OR, 0.5; 95% CI, 0.2-1.2; and third trimester OR, 0.3; 95% CI, 0.1-1.2). Eye abnormalities may be the only initial finding in congenital Zika virus infection. All infants with potential maternal Zika virus exposure at any time during pregnancy should undergo screening eye examinations regardless of the presence or absence of central nervous system abnormalities.

The Cerebellar Dysplasia of Chiari II Malformation as Revealed by Eye Movements

PubMed Central

Salman, Michael S.; Dennis, Maureen; Sharpe, James A.

2011-01-01

Introduction Chiari type II malformation (CII) is a developmental deformity of the hindbrain. We have previously reported that many patients with CII have impaired smooth pursuit, while few make inaccurate saccades or have an abnormal vestibulo-ocular reflex. In contrast, saccadic adaptation and visual fixation are normal. In this report, we correlate results from several eye movement studies with neuroimaging in CII. We present a model for structural changes within the cerebellum in CII. Methods Saccades, smooth pursuit, the vestibulo-ocular reflex, and visual fixation were recorded in 21 patients with CII, aged 8–19 years and 39 age-matched controls, using an infrared eye tracker. Qualitative and quantitative MRI data were correlated with eye movements in 19 CII patients and 28 controls. Results Nine patients with CII had abnormal eye movements. Smooth pursuit gain was subnormal in eight, saccadic accuracy abnormal in four, and vestibulo-ocular reflex gain abnormal in three. None had fixation instability. Patients with CII had a significantly smaller cerebellar volume than controls, and those with normal eye motion had an expanded midsagittal vermis compared to controls. However, patients with abnormal eye movements had a smaller (non-expanded) midsagittal vermis area, posterior fossa area and medial cerebellar volumes than CII patients with normal eye movements. Conclusions The deformity of CII affects the structure and function of the cerebellum selectively and differently in those with abnormal eye movements. We propose that the vermis can expand when compressed within a small posterior fossa in some CII patients, thus sparing its ocular motor functions. PMID:19960749

The iris – a window into the genetics of common and rare eye diseases

PubMed Central

Morrison, Patrick J

2010-01-01

Visual examination, without instruments, of the eye allows inspection of the iris, sclera, cornea and, through the iris, some abnormalities of the lens and retina. Several hereditary disorders can easily be recognised by characteristic iris changes. This review discusses changes in the iris, visible lens anomalies, and changes in the cornea surrounding the iris. A genetic diagnosis can help with management of diseases. Some conditions are single gene disorders, some are chromosomal rearrangements, and some are abnormalities of fetal development. PMID:20844723

[The 8-year follow-up study for clinical diagnostic potentials of frequency-doubling technology perimetry for perimetrically normal eyes of open-angle glaucoma patients with unilateral visual field loss].

PubMed

Fan, X; Wu, L L; Xiao, G G; Ma, Z Z; Liu, F

2018-03-11

Objective: To analyze potentials of frequency-doubling technology perimetry (FDP) for diagnosing open-angle glaucoma (OAG) in perimetrically normal eyes of OAG patients diagnosed with standard automated perimetry (SAP) and relating factors from abnormalities on FDP to visual field loss on SAP. Methods: A prospective cohort study. Sixty-eight eyes of 68 OAG patients visiting the ophthalmic clinic of Peking University Third Hospital during November 2003 and October 2007 [32 primary open-angle glaucoma patients and 36 normal tension glaucoma patients, 32 males and 36 females, with an average age of (59±13) years] with unilateral field loss detected by SAP (Octopus101 tG2 program) were examined with the FDP N-30 threshold program (Humphrey Instruments) at baseline. Two groups, FDP positive group and FDP negative group, were divided based on the FDP results, and visual field examinations were followed by a series of SAP examinations for the perimetrically normal eyes over 8 years. During the follow-up, the difference of the converting rate of SAP tests between the two groups was analyzed. Differences between "convertors" and "non-convertors" of SAP tests in the FDP positive group, such as the cup-to-disk ratio and glaucomatous optic neuropathy rate, were also compared with the independent-sample t test or Wilcoxon two-sample test for continuous variable data and the χ(2) test or Fisher exact test for classified variable data and rates. Results: Forty-eight perimetrically normal eyes of 48 participants had complete data and a qualifying follow-up. Baseline FDP results were positive in 33 eyes and negative in 15 eyes. Of the eyes with positive FDP results, 22 eyes developed abnormal SAP results after 4.0 to 90.0 months (median 14.5 months) , whereas none of the eyes with negative FDP results developed abnormal SAP results. For perimetrically normal eyes in the FDP positive group, "converters" showed a greater cup-to-disk ratio (0.73±0.09 vs . 0.63±0.14, Wilcoxon two-sample test, P= 0.011) and more eyes with glaucomatous optic neuropathy (19/22 vs . 4/11, Fisher exact test, P= 0.006). Conclusions: In perimetrically normal eyes of OAG patients, FDP could detect visual field loss of these eyes and predict to some extent future visual field loss on SAP. Severity of glaucomatous optic neuropathy at baseline is related to converting from abnormalities on FDP to visual field loss on SAP. (Chin J Ophthalmol, 2018, 54: 177-183) .

Intravitreal bevacizumab versus laser treatment in type 1 retinopathy of prematurity: report on fluorescein angiographic findings.

PubMed

Lepore, Domenico; Quinn, Graham E; Molle, Fernando; Baldascino, Antonio; Orazi, Lorenzo; Sammartino, Maria; Purcaro, Velia; Giannantonio, Carmen; Papacci, Patrizia; Romagnoli, Costantino

2014-11-01

To compare the structural outcome at 9 months of eyes treated with intravitreal injection of bevacizumab with fellow eyes treated with conventional laser photoablation in zone I type 1 retinopathy of prematurity (ROP). Single randomized controlled trial. All inborn babies with type 1 zone I ROP at a single institution were included in the study. One eye was randomized to receive an intravitreal injection of 0.5 mg bevacizumab; the fellow eye received conventional laser photoablation. Digital fundus photographs and fluorescein angiography (FA) using the RetCam (Clarity Medical Systems Inc., Pleasanton, CA) were performed before treatment and 9 months after treatment. Presence of retinal and choroidal abnormalities on FA at 9 months. Thirteen infants were enrolled; 1 died 3 months after birth. One laser-treated eye progressed to stage 5 retinal detachment. The remaining 23 eyes had favorable structural results at the 9-month follow-up and provided FA results. At 9 months of age, all eyes treated with a bevacizumab injection were noted to have abnormalities at the periphery (large avascular area, abnormal branching, shunt) or the posterior pole (hyperfluorescent lesion, absence of foveal avascular zone). These posterior and peripheral lesions were not observed in the majority of the lasered eyes. This study documents significant vascular and macular abnormalities of eyes in the bevacizumab group. Long-lasting implications of these abnormalities for visual function of the child need to be studied. Copyright © 2014 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Sensory Eye Dominance in Treated Anisometropic Amblyopia

PubMed Central

Chen, Yao

2017-01-01

Amblyopia results from inadequate visual experience during the critical period of visual development. Abnormal binocular interactions are believed to play a critical role in amblyopia. These binocular deficits can often be resolved, owing to the residual visual plasticity in amblyopes. In this study, we quantitatively measured the sensory eye dominance in treated anisometropic amblyopes to determine whether they had fully recovered. Fourteen treated anisometropic amblyopes with normal or corrected to normal visual acuity participated, and their sensory eye dominance was assessed by using a binocular phase combination paradigm. We found that the two eyes were unequal in binocular combination in most (11 out of 14) of our treated anisometropic amblyopes, but none of the controls. We concluded that the treated anisometropic amblyopes, even those with a normal range of visual acuity, exhibited abnormal binocular processing. Our results thus suggest that there is potential for improvement in treated anisometropic amblyopes that may further enhance their binocular visual functioning. PMID:28573051

Asymmetrical Interhemispheric Connections Develop in Cat Visual Cortex after Early Unilateral Convergent Strabismus: Anatomy, Physiology, and Mechanisms

PubMed Central

Bui Quoc, Emmanuel; Ribot, Jérôme; Quenech’Du, Nicole; Doutremer, Suzette; Lebas, Nicolas; Grantyn, Alexej; Aushana, Yonane; Milleret, Chantal

2011-01-01

In the mammalian primary visual cortex, the corpus callosum contributes to the unification of the visual hemifields that project to the two hemispheres. Its development depends on visual experience. When this is abnormal, callosal connections must undergo dramatic anatomical and physiological changes. However, data concerning these changes are sparse and incomplete. Thus, little is known about the impact of abnormal postnatal visual experience on the development of callosal connections and their role in unifying representation of the two hemifields. Here, the effects of early unilateral convergent strabismus (a model of abnormal visual experience) were fully characterized with respect to the development of the callosal connections in cat visual cortex, an experimental model for humans. Electrophysiological responses and 3D reconstruction of single callosal axons show that abnormally asymmetrical callosal connections develop after unilateral convergent strabismus, resulting from an extension of axonal branches of specific orders in the hemisphere ipsilateral to the deviated eye and a decreased number of nodes and terminals in the other (ipsilateral to the non-deviated eye). Furthermore this asymmetrical organization prevents the establishment of a unifying representation of the two visual hemifields. As a general rule, we suggest that crossed and uncrossed retino-geniculo-cortical pathways contribute successively to the development of the callosal maps in visual cortex. PMID:22275883

Nerve fibre layer analysis with GDx with a variable corneal compensator in patients with multiple sclerosis.

PubMed

Della Mea, Giovanni; Bacchetti, Sonia; Zeppieri, Marco; Brusini, Paolo; Cutuli, Daniela; Gigli, Gian Luigi

2007-01-01

To evaluate the ability of GDx with variable corneal compensator (VCC) compared to visual-evoked potentials (VEPs) and standard automated perimetry (SAP) in the detection of early optic nerve damage in patients with multiple sclerosis (MS). 46 eyes of 23 MS patients were included. Ten of them had a history of acute retrobulbar optic neuritis. A control group of 20 normal subjects was also included. All subjects underwent a complete ophthalmological examination and testing with SAP, GDx VCC and VEPs. 19 eyes (41.3%) were abnormal with GDx VCC compared to 38 eyes (82.6%) with SAP and 31 (64.4%) with VEPs. In the optic neuritis group, 9 eyes (69.2%) had optic nerve pallor; SAP was abnormal in 8 of these eyes (61.5%) while VEPs and GDx VCC were abnormal in 6 eyes (46.1%). 2/20 eyes (10.0%) in the control group gave a false-positive abnormal result with SAP. GDx VCC and VEP were normal for all the eyes in the control group. GDx VCC is less able to detect early defects in MS patients compared to the currently used standard techniques of SAP and VEPs. Copyright (c) 2007 S. Karger AG, Basel.

Eye Development Genes and Known Syndromes

PubMed Central

Slavotinek, Anne M.

2011-01-01

Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33–95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is important for targeted molecular genetic testing, prognosis and for counseling regarding recurrence risks. This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, Oculocardiafaciodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6. PMID:22005280

MarvelD3 regulates the c-Jun N-terminal kinase pathway during eye development in Xenopus

PubMed Central

Vacca, Barbara; Sanchez-Heras, Elena; Steed, Emily; Balda, Maria S.; Ohnuma, Shin-Ichi; Sasai, Noriaki; Mayor, Roberto

2016-01-01

ABSTRACT Ocular morphogenesis requires several signalling pathways controlling the expression of transcription factors and cell-cycle regulators. However, despite a well-known mechanism, the dialogue between those signals and factors remains to be unveiled. Here, we identify a requirement for MarvelD3, a tight junction transmembrane protein, in eye morphogenesis in Xenopus. MarvelD3 depletion led to an abnormally pigmented eye or even an eye-less phenotype, which was rescued by ectopic MarvelD3 expression. Altering MarvelD3 expression led to deregulated expression of cell-cycle regulators and transcription factors required for eye development. The eye phenotype was rescued by increased c-Jun terminal Kinase activation. Thus, MarvelD3 links tight junctions and modulation of the JNK pathway to eye morphogenesis. PMID:27870636

[Paediatric retinal detachment and hereditary vitreoretinal disorders].

PubMed

Meier, P

2013-09-01

The number of retinal detachments in children is very low in comparison to the number in adults. One predisposing factor for development of paediatric retinal detachment is suffering from hereditary vitreoretinal degeneration (e.g., Stickler syndrome, Wagner syndrome, Kniest dysplasia, familial exudative vitreoretinopathy, congenital X-linked retinoschisis, Knobloch syndrome, incontinentia pigmenti, Norrie disease). Hereditary vitreoretinopathies are characterised by an abnormal-appearing vitreous gel with associated retinal changes. In most of these eyes further ocular abnormalities can be diagnosed. A group of hereditary disorders is associated with characteristic systemic abnormalities. Allied conditions should be considered in the clinical diagnosis. Vitreoretinopathies are the most common cause of inherited retinal detachment. In most eyes primary vitrectomy is necessary, and disease-specific surgical treatment is discussed. Georg Thieme Verlag KG Stuttgart · New York.

Fundus autofluorescence and optical coherence tomographic findings in acute zonal occult outer retinopathy.

PubMed

Fujiwara, Takamitsu; Imamura, Yutaka; Giovinazzo, Vincent J; Spaide, Richard F

2010-09-01

The purpose of this study was to investigate the fundus autofluorescence and optical coherence tomography findings in eyes with acute zonal occult outer retinopathy (AZOOR). A retrospective observational case series of the fundus autofluorescence and spectral domain optical coherence tomography in a series of patients with AZOOR. There were 19 eyes of 11 patients (10 women), who had a mean age of 49.1 +/- 13.9 years. Fundus autofluorescence abnormalities were seen in 17 of the 19 eyes, were more common in the peripapillary area, and were smaller in extent than the optical coherence tomography abnormalities. Nine eyes showed progression of hypoautofluorescence area during the mean follow-up of 69.7 months. The mean thickness of the photoreceptor layer at fovea was 177 microm in eyes with AZOOR, which was significantly thinner than controls (193 microm, P = 0.049). Abnormal retinal laminations were found in 12 eyes and were located over areas of loss of the photoreceptors. The subfoveal choroidal thickness was 243 microm, which is normal. Fundus autofluorescence abnormalities in AZOOR showed distinct patterns of retinal pigment epithelial involvement, which may be progressive. Thinning of photoreceptor cell layer with loss of the outer segments and abnormal inner retinal lamination in the context of a normal choroid are commonly found in AZOOR.

Eye Growth in Term- And Preterm-Born Eyes Modeled From Magnetic Resonance Images

PubMed Central

Munro, Robert J.; Fulton, Anne B.; Chui, Toco Y. P.; Moskowitz, Anne; Ramamirtham, Ramkumar; Hansen, Ronald M.; Prabhu, Sanjay P.; Akula, James D.

2015-01-01

Purpose. We generated a model of eye growth and tested it against an eye known to develop abnormally, one with a history of retinopathy of prematurity (ROP). Methods. We reviewed extant magnetic resonance images (MRIs) from term and preterm-born patients for suitable images (n = 129). We binned subjects for analysis based upon postmenstrual age at birth (in weeks) and ROP history (“Term” ≥ 37, “Premature” ≤ 32 with no ROP, “ROP” ≤ 32 with ROP). We measured the axial positions and curvatures of the cornea, anterior and posterior lens, and inner retinal surface. We fit anterior chamber depth (ACD), posterior segment depth (PSD), axial length (AL), and corneal and lenticular curvatures with logistic growth curves that we then evaluated for significant differences. We also measured the length of rays from the centroid to the surface of the eye at 5° intervals, and described the length versus age relationship of each ray, Lray(x), using the same logistic growth curve. We determined the rate of ray elongation, Eray(x), from Lray dy/dx. Then, we estimated the scleral growth that accounted for Eray(x), G(x), at every age and position. Results. Relative to Term, development of ACD, PSD, AL, and corneal and lenticular curvatures was delayed in ROP eyes, but not Premature eyes. In Term infants, G(x) was fast and predominantly equatorial; in age-matched ROP eyes, maximal G(x) was offset by approximately 90°. Conclusions. We produced a model of normal eye growth in term-born subjects. Relative to normal, the ROP eye is characterized by delayed, abnormal growth. PMID:26024095

Comparison of multifocal visual evoked potential, standard automated perimetry and optical coherence tomography in assessing visual pathway in multiple sclerosis patients

PubMed Central

Laron, Michal; Cheng, Han; Zhang, Bin; Schiffman, Jade S.; Tang, Rosa A.; Frishman, Laura J.

2010-01-01

Background Multifocal visual evoked potentials (mfVEP) measure local response amplitude and latency in the field of vision Objective To compare the sensitivity of mfVEP, Humphrey visual field (HVF) and optical coherence tomography (OCT) in detecting visual abnormality in multiple sclerosis (MS) patients. Methods MfVEP, HVF, and OCT (retinal nerve fiber layer [RNFL]) were performed in 47 MS-ON eyes (last optic neuritis (ON) attack ≥ 6 months prior) and 65 MS-no-ON eyes without ON history. Criteria to define an eye as abnormal were: mfVEP 1) amplitude/latency: either amplitude or latency probability plots meeting cluster criteria with 95% specificity 2) amplitude or latency alone (specificity: 97% and 98%, respectively); HVF and OCT, mean deviation and RNFL thickness meeting p < 0.05, respectively. Results MfVEP (amplitude/latency) identified more abnormality in MS-ON eyes (89%) than HVF (72%), OCT (62%), mfVEP amplitude (66%) or latency (67%) alone. 18% of MS-no-ON eyes were abnormal for both mfVEP (amplitude/latency) and HVF compared to 8% with OCT. Agreement between tests ranged from 60% to 79%. MfVEP (amplitude/latency) categorized an additional 15% of MS-ON eyes as abnormal compared to HVF and OCT combined. Conclusions MfVEP, which detects both demyelination (increased latency) and neural degeneration (reduced amplitude) revealed more abnormality than HVF or OCT in MS patients. PMID:20207786

Electro-oculography of smooth pursuit and optokinetic nystagmus eye movements in type I Duane's retraction syndrome.

PubMed

Melek, Nélida B; Blanco, Susana; Garcia, Horacio

2006-01-01

These two eye movements have not been previously studied in this condition by this method. Five cases were studied. Both visual acuity and eye examination of anterior and posterior segments were normal. A Nicolet Nystar Plus system with chloride silver electrodes was used to record the EOG. Of the two systems under study, the smooth pursuit system showed the most relevant anomalies, both in the Duane's eye and in the apparently healthy eye. No correlation was found between the pursuit and optokinetic nystagmus disorders. In some cases, more significant abnormalities were observed in the clinically normal eye. The results clearly demonstrated a significant impairment of the pursuit system. This suggests that this motor disorder is not exclusively caused by hypoplasia or aplasia of the nucleus of the abducens nerve (VIth cranial nerve). These abnormalities might be related to a poor development of the rhombencephalon since both supramotor nuclei as well as the pathways of this system arise from this region of the embryonic brain. In the particular case of OKN, the supramotor nuclei have a different origin. Therefore, these systems might be affected differently.

Behaviour modification in the management of chronic habits of abnormal eye rubbing.

PubMed

McMonnies, Charles W

2009-04-01

To describe how and why many keratoconus patients do not comply with strong advice to control chronic habits of abnormal rubbing. To outline a behaviour modification approach for controlling chronic habits of abnormal rubbing. Common reasons for chronic habits of abnormal rubbing have been reviewed as a basis for specifying a behavioural modification approach to habit reversal. The methods described are organized into the classic behavioural modification structure of: (1) habit awareness, (2) competing responses, (3) development of motivation, and (4) social support. This structure is supported by the application of social influence principles to achieve optimum compliance. The use of take-home written information in the form of an Abnormal Rubbing Guide is the basis for the development of motivation. Family social support is based upon a widening of the responsibility for avoiding eye rubbing to all family members. Some patients will need minimal application of these principles with patient education being sufficient intervention to achieve habit reversal. For patients with strong provocation to rubbing and/or by having a well established rubbing habit, a greater exposure to the habit reversal program described is indicated. Successful habit reversal may slow the rate of ectasia progression. Prophylactic application of the methods described for patients who are at risk for developing keratoconus, or post-laser assisted in situ keratomileusis keratectasia, may show that some forms of keratectasia are preventable.

Anisocoria Secondary to Anticholinergic Mydriasis from Homeopathic Pink Eye Relief Drops.

PubMed

Chen, Lin; Yeung, Joseph C; Anderson, Dennis R

2017-12-01

A woman, aged 70 years, developed anisocoria after applying homeopathic eye drops (Similasan Pink Eye Relief) to her left eye. Her pupil was dilated for two weeks and did not respond to light or near stimuli for one week. Both 0.1% and 1% pilocarpine failed to constrict her left pupil, and magnetic resonance imaging of her brain did not reveal any abnormality. The eye drops she had used contain belladonna extracts which have a natural atropine component. This case demonstrates the importance, when evaluating a patient presenting with anisocoria, of knowing the chemical ingredients of the homeopathic eye drops, which often are not listed. © 2017 Marshfield Clinic.

CHOROIDAL MELANOMA IN A PATIENT WITH WAARDENBURG SYNDROME.

PubMed

Itty, Sujit; Richter, Elizabeth R; McCannel, Tara A

2015-01-01

To report a case of choroidal malignant melanoma in a patient with Waardenburg syndrome and bilateral choroidal pigmentary abnormalities. Clinical examination and multimodal imaging of the case. A 45-year-old woman presented with asymptomatic flat choroidal pigmentation abnormalities in both eyes. A choroidal lesion was identified in the inferotemporal periphery of the left eye arising from an area of hyperpigmentation; ultrasonography findings were consistent with a choroidal melanoma. The patient endorsed a personal and family history of premature graying of hair and was identified to have dystopia canthorum consistent with the diagnosis of Waardenburg syndrome. The authors present the first reported case of concurrent Waardenburg syndrome and choroidal malignant melanoma. This cooccurrence may suggest that the relative hyperpigmented regions in affected fundi may be abnormal and should be monitored closely for the development of choroidal melanoma.

Detecting early functional damage in glaucoma suspect and ocular hypertensive patients with the multifocal VEP technique.

PubMed

Thienprasiddhi, Phamornsak; Greenstein, Vivienne C; Chu, David H; Xu, Li; Liebmann, Jeffrey M; Ritch, Robert; Hood, Donald C

2006-08-01

To determine whether the multifocal visual evoked potential (mfVEP) technique can detect early functional damage in ocular hypertensive (OHT) and glaucoma suspect (GS) patients with normal standard achromatic automated perimetry (SAP) results. Twenty-five GS patients (25 eyes), 25 patients with OHT (25 eyes), and 50 normal controls (50 eyes) were enrolled in this study. All GS, OHT and normal control eyes had normal SAP as defined by a pattern standard deviation and mean deviation within the 95% confidence interval and a glaucoma hemifield test within normal limits on the Humphrey visual field 24-2 program. Eyes with GS had optic disc changes consistent with glaucoma with or without raised intraocular pressure (IOP), and eyes with OHT showed no evidence of glaucomatous optic neuropathy and IOPs >or=22 mm Hg. Monocular mfVEPs were obtained from both eyes of each subject using a pattern-reversal dartboard array with 60 sectors. The entire display had a radius of 22.3 degrees. The mfVEPs, for each eye, were defined as abnormal when either the monocular or interocular probability plot had a cluster of 3 or more contiguous points with P<0.05 and at least 2 of these points with P<0.01. The mfVEP results were abnormal in 4% of the eyes from normal subjects. Abnormal mfVEPs were detected in 20% of the eyes of GS patients and 16% of the eyes of OHT patients. Significantly more mfVEP abnormalities were detected in GS patients than in normal controls. However, there was no significant difference in mfVEP results between OHT patients and normal controls. The mfVEP technique can detect visual field deficits in a minority of eyes with glaucomatous optic disks and normal SAP results.

Comparing multifocal VEP and standard automated perimetry in high-risk ocular hypertension and early glaucoma.

PubMed

Fortune, Brad; Demirel, Shaban; Zhang, Xian; Hood, Donald C; Patterson, Emily; Jamil, Annisa; Mansberger, Steven L; Cioffi, George A; Johnson, Chris A

2007-03-01

To compare the diagnostic performance of multifocal visual evoked potential (mfVEP) and standard automated perimetry (SAP), in eyes with high-risk ocular hypertension or early glaucoma. Both eyes of 185 individuals with high-risk ocular hypertension or early glaucoma were evaluated. Subjects ranged in age from 37 to 87 (mean +/- SD: 61 +/- 11 years). Pattern-reversal mfVEPs were obtained by using VERIS (Electro-Diagnostic Imaging, San Mateo, CA) with a four-electrode array and were analyzed with custom software. SAP visual fields (SITA-standard; Carl Zeiss Meditec, Inc., Dublin, CA) were obtained within 22.3 +/- 27.0 days of the mfVEP. Stereo disc photographs and Heidelberg Retina Tomograph (HRT) images were obtained during one visit, which was within 24.8 +/- 50.4 days of the mfVEP and 33.1 +/- 62.9 days of the SAP visual field. Abnormalities on the mfVEP were defined by using a variety of cluster criteria: SAP with pattern standard deviation (PSD) P

Differences in neural crest sensitivity to ethanol account for the infrequency of anterior segment defects in the eye compared with craniofacial anomalies in a zebrafish model of fetal alcohol syndrome.

PubMed

Eason, Jessica; Williams, Antionette L; Chawla, Bahaar; Apsey, Christian; Bohnsack, Brenda L

2017-09-01

Ethanol (ETOH) exposure during pregnancy is associated with craniofacial and neurologic abnormalities, but infrequently disrupts the anterior segment of the eye. In these studies, we used zebrafish to investigate differences in the teratogenic effect of ETOH on craniofacial, periocular, and ocular neural crest. Zebrafish eye and neural crest development was analyzed by means of live imaging, TUNEL (terminal deoxynucleotidyl transferase dUTP nick end labeling) assay, immunostaining, detection of reactive oxygen species, and in situ hybridization. Our studies demonstrated that foxd3-positive neural crest cells in the periocular mesenchyme and developing eye were less sensitive to ETOH than sox10-positive craniofacial neural crest cells that form the pharyngeal arches and jaw. ETOH increased apoptosis in the retina, but did not affect survival of periocular and ocular neural crest cells. ETOH also did not increase reactive oxygen species within the eye. In contrast, ETOH increased ventral neural crest apoptosis and reactive oxygen species production in the facial mesenchyme. In the eye and craniofacial region, sod2 showed high levels of expression in the anterior segment and in the setting of Sod2 knockdown, low levels of ETOH decreased migration of foxd3-positive neural crest cells into the developing eye. However, ETOH had minimal effect on the periocular and ocular expression of transcription factors (pitx2 and foxc1) that regulate anterior segment development. Neural crest cells contributing to the anterior segment of the eye exhibit increased ability to withstand ETOH-induced oxidative stress and apoptosis. These studies explain the rarity of anterior segment dysgenesis despite the frequent craniofacial abnormalities in fetal alcohol syndrome. Birth Defects Research 109:1212-1227, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

ULTRAHIGH SPEED SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF RETINAL AND CHORIOCAPILLARIS ALTERATIONS IN DIABETIC PATIENTS WITH AND WITHOUT RETINOPATHY.

PubMed

Choi, WooJhon; Waheed, Nadia K; Moult, Eric M; Adhi, Mehreen; Lee, ByungKun; De Carlo, Talisa; Jayaraman, Vijaysekhar; Baumal, Caroline R; Duker, Jay S; Fujimoto, James G

2017-01-01

To investigate the utility of ultrahigh speed, swept source optical coherence tomography angiography in visualizing retinal microvascular and choriocapillaris (CC) changes in diabetic patients. The study was prospective and cross-sectional. A 1,050 nm wavelength, 400 kHz A-scan rate swept source optical coherence tomography prototype was used to perform volumetric optical coherence tomography angiography of the retinal and CC vasculatures in diabetic patients and normal subjects. Sixty-three eyes from 32 normal subjects, 9 eyes from 7 patients with proliferative diabetic retinopathy, 29 eyes from 16 patients with nonproliferative diabetic retinopathy, and 51 eyes from 28 diabetic patients without retinopathy were imaged. Retinal and CC microvascular abnormalities were observed in all stages of diabetic retinopathy. In nonproliferative diabetic retinopathy and proliferative diabetic retinopathy, optical coherence tomography angiography visualized a variety of vascular abnormalities, including clustered capillaries, dilated capillary segments, tortuous capillaries, regions of capillary dropout, reduced capillary density, abnormal capillary loops, and foveal avascular zone enlargement. In proliferative diabetic retinopathy, retinal neovascularization above the inner limiting membrane was visualized. Regions of CC flow impairment in patients with proliferative diabetic retinopathy and nonproliferative diabetic retinopathy were also observed. In 18 of the 51 of eyes from diabetic patients without retinopathy, retinal mircrovascular abnormalities were observed and CC flow impairment was found in 24 of the 51 diabetic eyes without retinopathy. The ability of optical coherence tomography angiography to visualize retinal and CC microvascular abnormalities suggests it may be a useful tool for understanding pathogenesis, evaluating treatment response, and earlier detection of vascular abnormalities in patients with diabetes.

When viewing natural scenes, do abnormal colors impact on spatial or temporal parameters of eye movements?

PubMed

Ho-Phuoc, Tien; Guyader, Nathalie; Landragin, Frédéric; Guérin-Dugué, Anne

2012-02-03

Since Treisman's theory, it has been generally accepted that color is an elementary feature that guides eye movements when looking at natural scenes. Hence, most computational models of visual attention predict eye movements using color as an important visual feature. In this paper, using experimental data, we show that color does not affect where observers look when viewing natural scene images. Neither colors nor abnormal colors modify observers' fixation locations when compared to the same scenes in grayscale. In the same way, we did not find any significant difference between the scanpaths under grayscale, color, or abnormal color viewing conditions. However, we observed a decrease in fixation duration for color and abnormal color, and this was particularly true at the beginning of scene exploration. Finally, we found that abnormal color modifies saccade amplitude distribution.

Ocular screening tests of elementary school children

NASA Technical Reports Server (NTRS)

Richardson, J.

1983-01-01

This report presents an analysis of 507 abnormal retinal reflex images taken of Huntsville kindergarten and first grade students. The retinal reflex images were obtained by using an MSFC-developed Generated Retinal Reflex Image System (GRRIS) photorefractor. The system uses a 35 mm camera with a telephoto lens with an electronic flash attachment. Slide images of the eyes were examined for abnormalities. Of a total of 1835 students screened for ocular abnormalities, 507 were found to have abnormal retinal reflexes. The types of ocular abnormalities detected were hyperopia, myopia, astigmatism, esotropia, exotropia, strabismus, and lens obstuctions. The report shows that the use of the photorefractor screening system is an effective low-cost means of screening school children for abnormalities.

SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FINDINGS IN MACULA-INVOLVING CYTOMEGALOVIRUS RETINITIS.

PubMed

Gupta, Mrinali P; Patel, Sarju; Orlin, Anton; Marlow, Elizabeth; Chee, Ru-Ik; Nadelmann, Jennifer; Chan, R V Paul; DʼAmico, Donald J; Kiss, Szilard

2018-05-01

To evaluate the microstructural features of cytomegalovirus (CMV) retinitis by spectral domain optical coherence tomography (OCT). Subjects were patients with macula-involving CMV retinitis with OCT imaging. The leading edge of retinitis in the macula was identified based on fundus imaging, and OCT findings were longitudinally evaluated in three areas: within the area of active retinitis, at the leading edge of retinitis, and just beyond the leading edge of retinitis. Optical coherence tomography imaging of macular CMV retinitis identified vitreous cells in 10 eyes (100%), posterior vitreous detachment in four eyes (40%), broad-based vitreomacular traction in one eye (10%), epiretinal membrane in eight eyes (80%), and lamellar hole-associated epiretinal proliferation associated with an atrophic hole in one eye (10%). Retinal architectural disruption, disruption of inner retinal layers, disruption of the external limiting membrane, and ellipsoid zone abnormalities were noted within the area of retinitis in all eyes and decreased in frequency and severity at and beyond the leading edge of retinitis, although all 10 eyes (100%) exhibited one of these abnormalities, especially outer retinal microabnormalities, beyond the leading edge of retinitis. Microstructural abnormalities were frequently noted on OCT of CMV retinitis, including within the retina beyond the leading edge of retinitis identified by corresponding fundus imaging. Outer retinal abnormalities were noted more frequently than inner retinal abnormalities beyond the leading edge of retinitis. These findings provide insight into the effects of CMV retinitis on retinal microstructure and potentially on vision and highlight the potential utility of OCT for monitoring microprogression of macula-involving CMV retinitis.

Electrophysiological abnormalities associated with extensive myelinated retinal nerve fibers.

PubMed

Tay, Su Ann; Sanjay, Srinivasan

2012-07-01

An observational case report of electrophysiological abnormalities in a patient with anisomyopic amblyopia as a result of unilateral extensive myelinated retinal nerve fibers (MNFs) is illustrated. The electrophysiological readings revealed an abnormal pattern electroretinogram (PERG) but normal full-field electroretinogram readings in the affected eye. The visual-evoked potential was also undetectable in that eye. Our findings suggest that extensive MNFs can be associated with electrophysiological abnormalities, in particular the PERG, which can aid in diagnosing the cause of impaired vision when associated with amblyopia.

Understanding disparities among diagnostic technologies in glaucoma.

PubMed

De Moraes, Carlos Gustavo V; Liebmann, Jeffrey M; Ritch, Robert; Hood, Donald C

2012-07-01

To investigate causes of disagreement among 3 glaucoma diagnostic techniques: standard automated achromatic perimetry (SAP), the multifocal visual evoked potential technique (mfVEP), and optical coherence tomography (OCT). In a prospective cross-sectional study, 138 eyes of 69 patients with glaucomatous optic neuropathy were tested using SAP, the mfVEP, and OCT. Eyes with the worse and better mean deviations (MDs) were analyzed separately. If the results of 2 tests were consistent for the presence of an abnormality in the same topographic site, that abnormality was considered a true glaucoma defect. If a third test missed that abnormality (false-negative result), the reasons for disparity were investigated. Eyes with worse MD (mean [SD], -6.8 [8.0] dB) had better agreements among tests than did eyes with better MD (-2.5 [3.5] dB, P<.01). For the 94 of 138 hemifields with abnormalities of the more advanced eyes, the 3 tests were consistent in showing the same hemifield abnormality in 50 hemifields (53%), and at least 2 tests were abnormal in 65 of the 94 hemifields (69%). The potential explanations for the false-negative results fell into 2 general categories: inherent limitations of each technique to detect distinct features of glaucoma and individual variability and the distribution of normative values used to define statistically significant abnormalities. All the cases of disparity could be explained by known limitations of each technique and interindividual variability, suggesting that the agreement among diagnostic tests may be better than summary statistics suggest and that disagreements between tests do not indicate discordance in the structure-function relationship.

Subclinical visual involvement in multiple sclerosis: a study by MRI, VEPs, frequency-doubling perimetry, standard perimetry, and contrast sensitivity.

PubMed

Sisto, Dario; Trojano, Maria; Vetrugno, Michele; Trabucco, Tiziana; Iliceto, Giovanni; Sborgia, Carlo

2005-04-01

To evaluate the effectiveness of visual evoked potentials (VEPs), frequency-doubling perimetry (FDP), standard achromatic perimetry (SAP), contrast sensitivity (CS) test, and magnetic resonance imaging (MRI), isolated or in combination, in detecting subclinical impairment of visual function in multiple sclerosis (MS). Twenty-two eyes of 11 patients affected by clinically definite MS, without a history of optic neuritis and asymptomatic for visual disturbances, underwent full ophthalmic examination and, in addition, VEPs, FDP, SAP, CS, and MRI. Abnormal results were taken to be as follows: for VEPs, a P100 latency >115 ms; for FDP, abnormal mean deviation (MD) or pattern SD (PSD); for SAP, abnormal MD or PSD; for CS, abnormal CS at one spatial frequency, at least; and for MRI, evidence of at least one demyelinating plaque along the visual pathway. VEPs showed abnormal results in 12 eyes (54.4%), FDP in 11 (50%), SAP in 14 (63.6%), CS in 17 (77.1%), and MRI in 16 (72.7%). In only two (9.1%) eyes of the same patient was no abnormality found. No single test detected all the abnormal eyes. Four (18.2%) eyes had pure optic nerve involvement and the remaining 16 (72.7%) had both pre- and postchiasmal involvement. In patients affected by clinically definite MS without history of optic neuritis and no visual symptoms, there is a large prevalence of visual pathway involvement that can be diagnosed only by performing multiple tests. The comparison of the tests is also useful to detect the presence of multiple lesions in the same patient.

En face OCT in Stargardt disease.

PubMed

Sodi, Andrea; Mucciolo, Dario Pasquale; Cipollini, Francesca; Murro, Vittoria; Caporossi, Orsola; Virgili, Gianni; Rizzo, Stanislao

2016-09-01

To evaluate the structural features of the macular region by enface OCT imaging in patients with clinical diagnosis of Stargardt disease, confirmed by the detection of ABCA4 mutations. Thirty-two STGD patients were included in the study for a total of 64 eyes. All patients received a comprehensive ophthalmological examination, color fundus photography, fundus auto-fluorescence imaging and OCT. Five OCT scans were considered: ILM and RPE scans (both automatically obtained from the instrument), above-RPE slab, photoreceptor slab and sub-RPE slab (these last three manually obtained). ILM scans showed evident radial folds on the retinal surface in 8/64 eyes (12.5 %). In 6 of the 7 patients, these vitreo-retinal interface abnormalities were unilateral. The photoreceptor slab showed some macular alterations ranging from dis-homogeneous, hypo-reflective abnormalities (7/64 eyes, 11 %) to a homogeneous, well-defined, roundish, hypo-reflective area (17/64 eyes, 27 %) in all the eyes. The sub-RPE slab showed a centrally evident, hyper-reflective abnormality in 58/64 eyes (90.6 %). Superimposing the sub-RPE slab over the images corresponding to the photoreceptor slab, the area of the photoreceptor atrophy sharply exceeded that of the RPE atrophy (44/46 eyes, 96 %). Enface OCT proved to be a clinically useful tool for the management of STGD patients, illustrating in vivo the structural abnormalities of the different retinal layers.

Eye-specific retinogeniculate segregation proceeds normally following disruption of patterned spontaneous retinal activity.

PubMed

Speer, Colenso M; Sun, Chao; Liets, Lauren C; Stafford, Ben K; Chapman, Barbara; Cheng, Hwai-Jong

2014-11-07

Spontaneous retinal activity (SRA) is important during eye-specific segregation within the dorsal lateral geniculate nucleus (dLGN), but the feature(s) of activity critical for retinogeniculate refinement are controversial. Pharmacologically or genetically manipulating cholinergic signaling during SRA perturbs correlated retinal ganglion cell (RGC) spiking and disrupts eye-specific retinofugal refinement in vivo, consistent with an instructive role for SRA during visual system development. Paradoxically, ablating the starburst amacrine cells (SACs) that generate cholinergic spontaneous activity disrupts correlated RGC firing without impacting retinal activity levels or eye-specific segregation in the dLGN. Such experiments suggest that patterned SRA during retinal waves is not critical for eye-specific refinement and instead, normal activity levels are permissive for retinogeniculate development. Here we revisit the effects of ablating the cholinergic network during eye-specific segregation and show that SAC ablation disrupts, but does not eliminate, retinal waves with no concomitant impact on normal eye-specific segregation in the dLGN. We induced SAC ablation in postnatal ferret pups beginning at birth by intraocular injection of a novel immunotoxin selective for the ferret vesicular acetylcholine transporter (Ferret VAChT-Sap). Through dual-patch whole-cell and multi-electrode array recording we found that SAC ablation altered SRA patterns and led to significantly smaller retinal waves compared with controls. Despite these defects, eye-specific segregation was normal. Further, interocular competition for target territory in the dLGN proceeded in cases where SAC ablation was asymmetric in the two eyes. Our data demonstrate normal eye-specific retinogeniculate development despite significant abnormalities in patterned SRA. Comparing our current results with earlier studies suggests that defects in retinal wave size, absolute levels of SRA, correlations between RGC pairs, RGC burst frequency, high frequency RGC firing during bursts, and the number of spikes per RGC burst are each uncorrelated with abnormalities in eye-specific segregation in the dLGN. An increase in the fraction of asynchronous spikes occurring outside of bursts and waves correlates with eye-specific segregation defects in studies reported to date. These findings highlight the relative importance of different features of SRA while providing additional constraints for computational models of Hebbian plasticity mechanisms in the developing visual system.

Gaze failure, drifting eye movements, and centripetal nystagmus in cerebellar disease.

PubMed Central

Leech, J; Gresty, M; Hess, K; Rudge, P

1977-01-01

Three abnormalities of eye movement in man are described which are indicative of cerebellar system disorder, namely, centripetally beating nystagmus, failure to maintain lateral gaze either in darkness or with eye closure, and slow drifting movements of the eyes in the absence of fixation. Similar eye movement signs follow cerebellectomy in the primate and the cat. These abnormalities of eye movement, together with other signs of cerebellar disease, such as rebound alternating, and gaze paretic nystagmus, are explained by the hypothesis that the cerebellum helps to maintain lateral gaze and that brain stem mechanisms which monitor gaze position generate compensatory biases in the absence of normal cerebellar function. PMID:603785

Multimodal Retinal Imaging in Incontinentia Pigmenti Including Optical Coherence Tomography Angiography: Findings From an Older Cohort With Mild Phenotype.

PubMed

Liu, Tin Yan Alvin; Han, Ian C; Goldberg, Morton F; Linz, Marguerite O; Chen, Connie J; Scott, Adrienne W

2018-05-01

Incontinentia pigmenti (IP) is a rare, X-linked dominant disease with potentially severe ocular complications that predominantly affect the peripheral retina. However, little is known about its effects on the macula. To describe the structural and vascular abnormalities observed in the maculas of patients with IP and to correlate these findings with peripheral pathologies. Prospective, cross-sectional study at Wilmer Eye Institute, Johns Hopkins University. Five participants with a clinical diagnosis of IP were included and underwent multimodal imaging with ultra-wide-field fluorescein angiography (FA), spectral-domain optical coherence tomography (OCT), and OCT angiography. The structural and vascular abnormalities observed on spectral-domain OCT and OCT angiography and their correlation with peripheral pathologies seen on ultra-wide-field FA. A total of 9 eyes from 5 patients (median age, 20.5 years; range, 8.4-54.2 years) were included. Median Snellen visual acuity was 20/32 (range, 20/16 to 20/63). ultra-wide-field FA-identified retinal vascular abnormalities in all 7 eyes in which FA was obtained. These abnormalities included microaneurysms, areas of nonperfusion, and vascular anastomoses, most of which were peripheral to the standard view of 30° FA with peripheral sweeps. Structural abnormalities were observed in 6 eyes on spectral-domain OCT, including inner retinal thinning and irregularities in the outer plexiform layer. Optical coherence tomography angiography abnormalities were noted in all 9 eyes, including decreased vascular density, abnormal vascular loops, and flow loss in the superficial and deep plexuses, which corresponded to areas of retinal thinning on spectral-domain OCT. Although our study is limited by the small sample size, the findings suggest that multimodal imaging is useful for detecting structural and vascular abnormalities that may not be apparent on ophthalmoscopy in patients with IP. Macular pathologies, especially a decrease in vascular density on OCT angiography, are common. Further studies are needed to characterize further the association between macular and peripheral abnormalities in patients with IP.

Simulation of realistic retinoscopic measurement

NASA Astrophysics Data System (ADS)

Tan, Bo; Chen, Ying-Ling; Baker, K.; Lewis, J. W.; Swartz, T.; Jiang, Y.; Wang, M.

2007-03-01

Realistic simulation of ophthalmic measurements on normal and diseased eyes is presented. We use clinical data of ametropic and keratoconus patients to construct anatomically accurate three-dimensional eye models and simulate the measurement of a streak retinoscope with all the optical elements. The results show the clinical observations including the anomalous motion in high myopia and the scissors reflex in keratoconus. The demonstrated technique can be applied to other ophthalmic instruments and to other and more extensively abnormal eye conditions. It provides promising features for medical training and for evaluating and developing ocular instruments.

Ultrahigh-Resolution Optical Coherence Tomography of Surgically Closed Macular Holes

PubMed Central

Ko, Tony H.; Witkin, Andre J.; Fujimoto, James G.; Chan, Annie; Rogers, Adam H.; Baumal, Caroline R.; Schuman, Joel S.; Drexler, Wolfgang; Reichel, Elias; Duker, Jay S.

2007-01-01

Objective To evaluate retinal anatomy using ultrahigh-resolution optical coherence tomography (OCT) in eyes after successful surgical repair of full-thickness macular hole. Methods Twenty-two eyes of 22 patients were diagnosed as having macular hole, underwent pars plana vitrectomy, and had flat/closed macular anatomy after surgery, as confirmed with biomicroscopic and OCT examination findings. An ultrahigh-resolution–OCT system developed for retinal imaging, with the capability to achieve approximately 3-μm axial resolution, was used to evaluate retinal anatomy after hole repair. Results Despite successful closure of the macular hole, all 22 eyes had macular abnormalities on ultrahigh-resolution–OCT images after surgery. These abnormalities were separated into the following 5 categories: (1) outer foveal defects in 14 eyes (64%), (2) persistent foveal detachment in 4 (18%), (3) moderately reflective foveal lesions in 12 (55%), (4) epiretinal membranes in 14 (64%), and (5) nerve fiber layer defects in 3 (14%). Conclusions With improved visualization of fine retinal architectural features, ultrahigh-resolution OCT can visualize persistent retinal abnormalities despite anatomically successful macular hole surgery. Outer foveal hyporeflective disruptions of the junction between the inner and outer segments of the photoreceptors likely represent areas of foveal photoreceptor degeneration. Moderately reflective lesions likely represent glial cell proliferation at the site of hole reapproximation. Thin epiretinal membranes do not seem to decrease visual acuity and may play a role in reestablishing foveal anatomy after surgery. PMID:16769836

Disruption of Msx-1 and Msx-2 reveals roles for these genes in craniofacial, eye, and axial development.

PubMed

Foerst-Potts, L; Sadler, T W

1997-05-01

In mouse embryos, the muscle segment homeobox genes, Msx-1 and Msx-2 are expressed during critical stages of neural tube, neural crest, and craniofacial development, suggesting that these genes play important roles in organogenesis and cell differentiation. Although the patterns of expression are intriguing, little is known about the function of these genes in vertebrate embryonic development. Therefore, the expression of both genes, separately and together, was disrupted using antisense oligodeoxynucleotides and whole embryo culture techniques. Antisense attenuation of Msx-1 during early stages of neurulation produced hypoplasia of the maxillary, mandibular, and frontonasal prominences, eye anomalies, and somite and neural tube abnormalities. Eye defects consisted of enlarged optic vesicles, which may ultimately result in micropthalmia similar to that observed in Small eye mice homozygous for mutations in the Pax-6 gene. Histological sections and SEM analysis revealed a thinning of the neuroepithelium in the diencephalon and optic vesicle and mesenchymal deficiencies in the craniofacial region. Injections of Msx-2 antisense oligodeoxynucleotides produced similar malformations as those targeting Msx-1, with the exception that there was an increase in number and severity of neural tube and somite defects. Embryos injected with the combination of Msx-1 + Msx-2 antisense oligodeoxynucleotides showed no novel abnormalities, suggesting that the genes do not operate in a redundant manner.

Increased avidity for Dpp/BMP2 maintains the proliferation of progenitors-like cells in the Drosophila eye.

PubMed

Neto, Marta; Aguilar-Hidalgo, Daniel; Casares, Fernando

2016-10-01

During organ development, the progenitor state is transient, and depends on specific combinations of transcription factors and extracellular signals. Not surprisingly, abnormal maintenance of progenitor transcription factors may lead to tissue overgrowth, and the concurrence of signals from the local environment is often critical to trigger this overgrowth. Therefore, identifying specific combinations of transcription factors/signals promoting -or opposing- proliferation in progenitors is essential to understand normal development and disease. We have investigated this issue using the Drosophila eye as model. Transcription factors hth and tsh are transiently expressed in eye progenitors causing the expansion of the progenitor pool. However, if their co-expression is maintained experimentally, cell proliferation continues and differentiation is halted. Here we show that Hth+Tsh-induced tissue overgrowth requires the BMP2 Dpp and the abnormal hyperactivation of its pathway. Rather than using autocrine Dpp expression, Hth+Tsh cells increase their avidity for Dpp, produced locally, by upregulating extracellular matrix components. During normal development, Dpp represses hth and tsh ensuring that the progenitor state is transient. However, cells in which Hth+Tsh expression is forcibly maintained use Dpp to enhance their proliferation. Copyright © 2016 Elsevier Inc. All rights reserved.

Abnormal Fixational Eye Movements in Amblyopia.

PubMed

Shaikh, Aasef G; Otero-Millan, Jorge; Kumar, Priyanka; Ghasia, Fatema F

2016-01-01

Fixational saccades shift the foveal image to counteract visual fading related to neural adaptation. Drifts are slow eye movements between two adjacent fixational saccades. We quantified fixational saccades and asked whether their changes could be attributed to pathologic drifts seen in amblyopia, one of the most common causes of blindness in childhood. Thirty-six pediatric subjects with varying severity of amblyopia and eleven healthy age-matched controls held their gaze on a visual target. Eye movements were measured with high-resolution video-oculography during fellow eye-viewing and amblyopic eye-viewing conditions. Fixational saccades and drifts were analyzed in the amblyopic and fellow eye and compared with controls. We found an increase in the amplitude with decreased frequency of fixational saccades in children with amblyopia. These alterations in fixational eye movements correlated with the severity of their amblyopia. There was also an increase in eye position variance during drifts in amblyopes. There was no correlation between the eye position variance or the eye velocity during ocular drifts and the amplitude of subsequent fixational saccade. Our findings suggest that abnormalities in fixational saccades in amblyopia are independent of the ocular drift. This investigation of amblyopia in pediatric age group quantitatively characterizes the fixation instability. Impaired properties of fixational saccades could be the consequence of abnormal processing and reorganization of the visual system in amblyopia. Paucity in the visual feedback during amblyopic eye-viewing condition can attribute to the increased eye position variance and drift velocity.

Abnormal Fixational Eye Movements in Amblyopia

PubMed Central

Shaikh, Aasef G.; Otero-Millan, Jorge; Kumar, Priyanka; Ghasia, Fatema F.

2016-01-01

Purpose Fixational saccades shift the foveal image to counteract visual fading related to neural adaptation. Drifts are slow eye movements between two adjacent fixational saccades. We quantified fixational saccades and asked whether their changes could be attributed to pathologic drifts seen in amblyopia, one of the most common causes of blindness in childhood. Methods Thirty-six pediatric subjects with varying severity of amblyopia and eleven healthy age-matched controls held their gaze on a visual target. Eye movements were measured with high-resolution video-oculography during fellow eye-viewing and amblyopic eye-viewing conditions. Fixational saccades and drifts were analyzed in the amblyopic and fellow eye and compared with controls. Results We found an increase in the amplitude with decreased frequency of fixational saccades in children with amblyopia. These alterations in fixational eye movements correlated with the severity of their amblyopia. There was also an increase in eye position variance during drifts in amblyopes. There was no correlation between the eye position variance or the eye velocity during ocular drifts and the amplitude of subsequent fixational saccade. Our findings suggest that abnormalities in fixational saccades in amblyopia are independent of the ocular drift. Discussion This investigation of amblyopia in pediatric age group quantitatively characterizes the fixation instability. Impaired properties of fixational saccades could be the consequence of abnormal processing and reorganization of the visual system in amblyopia. Paucity in the visual feedback during amblyopic eye-viewing condition can attribute to the increased eye position variance and drift velocity. PMID:26930079

Electrophysiological abnormalities associated with extensive myelinated retinal nerve fibers

PubMed Central

Tay, Su Ann; Sanjay, Srinivasan

2012-01-01

An observational case report of electrophysiological abnormalities in a patient with anisomyopic amblyopia as a result of unilateral extensive myelinated retinal nerve fibers (MNFs) is illustrated. The electrophysiological readings revealed an abnormal pattern electroretinogram (PERG) but normal full-field electroretinogram readings in the affected eye. The visual-evoked potential was also undetectable in that eye. Our findings suggest that extensive MNFs can be associated with electrophysiological abnormalities, in particular the PERG, which can aid in diagnosing the cause of impaired vision when associated with amblyopia. PMID:22824610

Gonioscopy in the dog: inter-examiner variability and the search for a grading scheme.

PubMed

Oliver, J A C; Cottrell, B C; Newton, J R; Mellersh, C S

2017-11-01

To investigate inter-examiner variability in gonioscopic evaluation of pectinate ligament abnormality in dogs and to assess level of inter-examiner agreement for four different gonioscopy grading schemes. Two examiners performed gonioscopy in 98 eyes of 49 Welsh springer spaniel dogs and estimated the percentage circumference of iridocorneal angle affected by pectinate ligament abnormality to the nearest 5%. Percentage scores assigned to each eye by the two examiners were compared. Inter-examiner agreement was assessed following assignment of the percentage scores to each of four grading schemes by Cohen's kappa statistic. There was a strong positive correlation between the results of the two examiners (R=0·91). In general, Examiner 1 scored individual eyes higher than Examiner 2, especially for eyes in which both examiners diagnosed pectinate ligament abnormality. A "good" level of agreement could only be achieved with a gonioscopy grading scheme of no more than three categories and with a relatively large intermediate bandwidth (κ=0·68). A three-tiered grading scheme might represent an improvement on hereditary eye disease schemes which simply classify dogs to be either "affected" or "unaffected" for pectinate ligament abnormality. However, the large intermediate bandwidth of this scheme would only allow for the additional detection of those dogs with marked progression of pectinate ligament abnormality which would be considered most at risk of primary closed-angle glaucoma. © 2017 British Small Animal Veterinary Association.

Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation.

PubMed

Wu, Li Hong; Chen, Li-Hong; Xie, Hongning; Xie, Ying-Jun

2017-06-01

We report a case of Norrie disease, diagnosed by prenatal ultrasound, confirmed by Sanger sequencing of the DNP gene from the aborted fetal cord blood and histologically. Prenatal ultrasound revealed no abnormality in either eye at 22 +1 and 31 +4 gestational weeks, but at 36 +5 gestational weeks both eyes had massive vitreous cavity opacities with complete retinal detachment. Norrie disease was initially suspected because of an older male sibling with the disease. To our knowledge, prenatal ultrasound diagnosis of Norrie disease has been previously described only one case in 1993 in a 34-week-old fetus. The normal eye development until after 31 + 4 gestational weeks provides insight into the first manifestation and then the rapid progression of the eye disease.

Ocular abnormalities in mice lacking the immunoglobulin superfamily member Cdo.

PubMed

Zhang, Wei; Mulieri, Philip J; Gaio, Ursula; Bae, Gyu-Un; Krauss, Robert S; Kang, Jong-Sun

2009-10-01

Vertebrate eye development requires a series of complex morphogenetic and inductive events to produce a lens vesicle centered within the bilayered optic cup and a posteriorly positioned optic stalk. Multiple congenital eye defects, including microphthalmia and coloboma, result from defects in early eye morphogenesis. Cdo is a multifunctional cell surface immunoglobulin superfamily member that interacts with and mediates signaling by cadherins and netrins to regulate myogenesis. In addition, Cdo plays an essential role in early forebrain development by functioning as coreceptor for sonic hedgehog. It is reported here that Cdo is expressed in a dynamic, but dorsally restricted, fashion during early eye development, and that mice lacking Cdo display multiple eye defects. Anomalies seen in Cdo(-/-) mice include coloboma (failure to close the optic fissure); failure to form a proper boundary between the retinal pigmented epithelium and optic stalk; defective lens formation, including failure to separate from the surface ectoderm; and microphthalmia. Consistent with this wide array of defects, developing eyes of Cdo(-/-) mice show altered expression of several regulators of dorsoventral eye patterning, including Pax6, Pax2, and Tbx5. Taken together, these findings show that Cdo is required for normal eye development and is required for normal expression of patterning genes in both the ventral and dorsal domains. The multiple eye development defects seen in Cdo(-/-) mice suggest that mutations in human Cdo could contribute to congenital eye anomalies, such as Jacobsen syndrome, which is frequently associated with ocular defects, including coloboma and Peters' anomaly.

Quantitative analysis on electrooculography (EOG) for neurodegenerative disease

NASA Astrophysics Data System (ADS)

Liu, Chang-Chia; Chaovalitwongse, W. Art; Pardalos, Panos M.; Seref, Onur; Xanthopoulos, Petros; Sackellares, J. C.; Skidmore, Frank M.

2007-11-01

Many studies have documented abnormal horizontal and vertical eye movements in human neurodegenerative disease as well as during altered states of consciousness (including drowsiness and intoxication) in healthy adults. Eye movement measurement may play an important role measuring the progress of neurodegenerative diseases and state of alertness in healthy individuals. There are several techniques for measuring eye movement, Infrared detection technique (IR). Video-oculography (VOG), Scleral eye coil and EOG. Among those available recording techniques, EOG is a major source for monitoring the abnormal eye movement. In this real-time quantitative analysis study, the methods which can capture the characteristic of the eye movement were proposed to accurately categorize the state of neurodegenerative subjects. The EOG recordings were taken while 5 tested subjects were watching a short (>120 s) animation clip. In response to the animated clip the participants executed a number of eye movements, including vertical smooth pursued (SVP), horizontal smooth pursued (HVP) and random saccades (RS). Detection of abnormalities in ocular movement may improve our diagnosis and understanding a neurodegenerative disease and altered states of consciousness. A standard real-time quantitative analysis will improve detection and provide a better understanding of pathology in these disorders.

Binocular combination in abnormal binocular vision

PubMed Central

Ding, Jian; Klein, Stanley A.; Levi, Dennis M.

2013-01-01

We investigated suprathreshold binocular combination in humans with abnormal binocular visual experience early in life. In the first experiment we presented the two eyes with equal but opposite phase shifted sine waves and measured the perceived phase of the cyclopean sine wave. Normal observers have balanced vision between the two eyes when the two eyes' images have equal contrast (i.e., both eyes contribute equally to the perceived image and perceived phase = 0°). However, in observers with strabismus and/or amblyopia, balanced vision requires a higher contrast image in the nondominant eye (NDE) than the dominant eye (DE). This asymmetry between the two eyes is larger than predicted from the contrast sensitivities or monocular perceived contrast of the two eyes and is dependent on contrast and spatial frequency: more asymmetric with higher contrast and/or spatial frequency. Our results also revealed a surprising NDE-to-DE enhancement in some of our abnormal observers. This enhancement is not evident in normal vision because it is normally masked by interocular suppression. However, in these abnormal observers the NDE-to-DE suppression was weak or absent. In the second experiment, we used the identical stimuli to measure the perceived contrast of a cyclopean grating by matching the binocular combined contrast to a standard contrast presented to the DE. These measures provide strong constraints for model fitting. We found asymmetric interocular interactions in binocular contrast perception, which was dependent on both contrast and spatial frequency in the same way as in phase perception. By introducing asymmetric parameters to the modified Ding-Sperling model including interocular contrast gain enhancement, we succeeded in accounting for both binocular combined phase and contrast simultaneously. Adding binocular contrast gain control to the modified Ding-Sperling model enabled us to predict the results of dichoptic and binocular contrast discrimination experiments and provides new insights into the mechanisms of abnormal binocular vision. PMID:23397039

Binocular combination in abnormal binocular vision.

PubMed

Ding, Jian; Klein, Stanley A; Levi, Dennis M

2013-02-08

We investigated suprathreshold binocular combination in humans with abnormal binocular visual experience early in life. In the first experiment we presented the two eyes with equal but opposite phase shifted sine waves and measured the perceived phase of the cyclopean sine wave. Normal observers have balanced vision between the two eyes when the two eyes' images have equal contrast (i.e., both eyes contribute equally to the perceived image and perceived phase = 0°). However, in observers with strabismus and/or amblyopia, balanced vision requires a higher contrast image in the nondominant eye (NDE) than the dominant eye (DE). This asymmetry between the two eyes is larger than predicted from the contrast sensitivities or monocular perceived contrast of the two eyes and is dependent on contrast and spatial frequency: more asymmetric with higher contrast and/or spatial frequency. Our results also revealed a surprising NDE-to-DE enhancement in some of our abnormal observers. This enhancement is not evident in normal vision because it is normally masked by interocular suppression. However, in these abnormal observers the NDE-to-DE suppression was weak or absent. In the second experiment, we used the identical stimuli to measure the perceived contrast of a cyclopean grating by matching the binocular combined contrast to a standard contrast presented to the DE. These measures provide strong constraints for model fitting. We found asymmetric interocular interactions in binocular contrast perception, which was dependent on both contrast and spatial frequency in the same way as in phase perception. By introducing asymmetric parameters to the modified Ding-Sperling model including interocular contrast gain enhancement, we succeeded in accounting for both binocular combined phase and contrast simultaneously. Adding binocular contrast gain control to the modified Ding-Sperling model enabled us to predict the results of dichoptic and binocular contrast discrimination experiments and provides new insights into the mechanisms of abnormal binocular vision.

Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome.

PubMed

Testa, Francesco; Melillo, Paolo; Rossi, Settimio; Marcelli, Vincenzo; de Benedictis, Antonella; Colucci, Raffaella; Gallo, Beatrice; Brunetti-Pierri, Raffaella; Donati, Simone; Azzolini, Claudio; Marciano, Elio; Simonelli, Francesca

2018-01-01

To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2). A retrospective study was performed by reviewing optical coherence tomography (OCT) in 134 USH patients to determine the presence of macular abnormalities, including cystoid macular edema (CME), epiretinal membrane (ERM), vitreo-macular traction syndrome (VMT), and macular hole (MH). Macular abnormalities were observed in 126/268 (47.0%) examined eyes. The most frequent abnormality was ERM observed in 51 eyes (19%), followed by CME observed in 42 eyes (15.7%). Moreover, CME was significantly (p < 0.05) associated with younger age (CME: 30.1 ± 11.1 years; without CME: 36.9 ± 14.9 years), whereas VMT and full thickness MH were associated with older age (p < 0.05). Moreover, a significantly (p < 0.05) decreased best-corrected visual acuity was associated with MH compared to eyes without MH. Finally, CME was more frequent in USH1 compared to USH2. Our study, for the first time in the literature, showed the distribution of all macular abnormalities assessed by SD-OCT in a large USH cohort, comparing USH1 and USH2 patients. We observed that ocular abnormalities are highly prevalent in USH patients compared to general population, with ERM and CME being the most common alterations. Based on these findings, OCT screening in USH patients is recommended for early detection of macular changes and early treatment.

Retinal architecture and mfERG: Optic nerve head component response characteristics in MS.

PubMed

Schnurman, Zane S; Frohman, Teresa C; Beh, Shin C; Conger, Darrel; Conger, Amy; Saidha, Shiv; Galetta, Steven; Calabresi, Peter A; Green, Ari J; Balcer, Laura J; Frohman, Elliot M

2014-05-27

To describe a novel neurophysiologic signature of the retinal ganglion cell and to elucidate its relationship to abnormalities in validated structural and functional measures of the visual system. We used multifocal electroretinogram-generated optic nerve head component (ONHC) responses from normal subjects (n = 18), patients with multiple sclerosis (MS) (n = 18), and those with glaucoma (n = 3). We then characterized the relationship between ONHC response abnormalities and performance on low-contrast visual acuity, multifocal visual-evoked potential-induced cortical responses, and average and quadrant retinal nerve fiber layer (RNFL) thicknesses, as measured by spectral-domain optical coherence tomography. Compared with the eyes of normal subjects, the eyes of patients with MS exhibited an increased number of abnormal or absent ONHC responses (p < 0.0001). For every 7-letter reduction in low-contrast letter acuity, there were corresponding 4.6 abnormal ONHC responses at 2.5% contrast (p < 0.0001) and 6.6 abnormalities at the 1.25% contrast level (p < 0.0001). Regarding average RNFL thickness, for each 10-μm thickness reduction, we correspondingly observed 6.8 abnormal ONHC responses (p = 0.0002). The most robust association was between RNFL thinning in the temporal quadrant and ONHC response abnormalities (p < 0.0001). Further characterization of ONHC abnormalities (those that are reversible and irreversible) may contribute to the development of novel neurotherapeutic strategies aimed at achieving neuroprotective, and perhaps even neurorestorative, effects in disorders that target the CNS in general, and MS in particular. © 2014 American Academy of Neurology.

Betaine

MedlinePlus

... the eye, abnormal bone structure, osteoporosis (weak bones), blood clots, or decreased weight or rate of weight gain and slowed development in children. Betaine is in a class of medications called nutrients. It works by decreasing the amount of homocysteine in the blood.

The albino chick as a model for studying ocular developmental anomalies, including refractive errors, associated with albinism.

PubMed

Rymer, Jodi; Choh, Vivian; Bharadwaj, Shrikant; Padmanabhan, Varuna; Modilevsky, Laura; Jovanovich, Elizabeth; Yeh, Brenda; Zhang, Zhan; Guan, Huanxian; Payne, W; Wildsoet, Christine F

2007-10-01

Albinism is associated with a variety of ocular anomalies including refractive errors. The purpose of this study was to investigate the ocular development of an albino chick line. The ocular development of both albino and normally pigmented chicks was monitored using retinoscopy to measure refractive errors and high frequency A-scan ultrasonography to measure axial ocular dimensions. Functional tests included an optokinetic nystagmus paradigm to assess visual acuity, and flash ERGs to assess retinal function. The underlying genetic abnormality was characterized using a gene microarray, PCR and a tyrosinase assay. The ultrastructure of the retinal pigment epithelium (RPE) was examined using transmission electron microscopy. PCR confirmed that the genetic abnormality in this line is a deletion in exon 1 of the tyrosinase gene. Tyrosinase gene expression in isolated RPE cells was minimally detectable, and there was minimal enzyme activity in albino feather bulbs. The albino chicks had pink eyes and their eyes transilluminated, reflecting the lack of melanin in all ocular tissues. All three main components, anterior chamber, crystalline lens and vitreous chamber, showed axial expansion over time in both normal and albino animals, but the anterior chambers of albino chicks were consistently shallower than those of normal chicks, while in contrast, their vitreous chambers were longer. Albino chicks remained relatively myopic, with higher astigmatism than the normally pigmented chicks, even though both groups underwent developmental emmetropization. Albino chicks had reduced visual acuity yet the ERG a- and b-wave components had larger amplitudes and shorter than normal implicit times. Developmental emmetropization occurs in the albino chick but is impaired, likely because of functional abnormalities in the RPE and/or retina as well as optical factors. In very young chicks the underlying genetic mutation may also contribute to refractive error and eye shape abnormalities.

Ablation of Mrds1/Ofcc1 Induces Hyper-γ-Glutamyl Transpeptidasemia without Abnormal Head Development and Schizophrenia-Relevant Behaviors in Mice

PubMed Central

Ohnishi, Tetsuo; Yamada, Kazuo; Watanabe, Akiko; Ohba, Hisako; Sakaguchi, Toru; Honma, Yota; Iwayama, Yoshimi; Toyota, Tomoko; Maekawa, Motoko; Watanabe, Kazutada; Detera-Wadleigh, Sevilla D.; Wakana, Shigeharu; Yoshikawa, Takeo

2011-01-01

Mutations in the Opo gene result in eye malformation in medaka fish. The human ortholog of this gene, MRDS1/OFCC1, is a potentially causal gene for orofacial cleft, as well as a susceptibility gene for schizophrenia, a devastating mental illness. Based on this evidence, we hypothesized that this gene could perform crucial functions in the development of head and brain structures in vertebrates. To test this hypothesis, we created Mrds1/Ofcc1-null mice. Mice were examined thoroughly using an abnormality screening system referred to as “the Japan Mouse Clinic”. No malformations of the head structure, eye or other parts of the body were apparent in these knockout mice. However, the mutant mice showed a marked increase in serum γ-glutamyl transpeptidase (GGT), a marker for liver damage, but no abnormalities in other liver-related measurements. We also performed a family-based association study on the gene in schizophrenia samples of Japanese origin. We found five single nucleotide polymorphisms (SNPs) located across the gene that showed significant transmission distortion, supporting a prior report of association in a Caucasian cohort. However, the knockout mice showed no behavioral phenotypes relevant to schizophrenia. In conclusion, disruption of the Mrds1/Ofcc1 gene elicits asymptomatic hyper-γ-glutamyl-transpeptidasemia in mice. However, there were no phenotypes to support a role for the gene in the development of eye and craniofacial structures in vertebrates. These results prompt further examination of the gene, including its putative contribution to hyper-γ-glutamyl transpeptidasemia and schizophrenia. PMID:22242126

Modulation of corneal wound healing after excimer laser keratomileusis using topical mitomycin C and steroids

DOE Office of Scientific and Technical Information (OSTI.GOV)

Talamo, J.H.; Gollamudi, S.; Green, W.R.

1991-08-01

A 193-nm excimer laser system was used to create deep stromal ablations in seven New Zealand white rabbits and shallow ablations in three. Eyes were randomized for treatment with topical mitomycin C, steroids, and erythromycin; topical steroids and erythromycin; or topical erythromycin only. All treatment regimens were instituted twice daily for 14 days. All eyes reepithelialized normally within 3 to 5 days. During 10 weeks of follow-up, all eyes developed moderate reticular subepithelial haze without significant differences among treatment groups. Results of light, fluorescence, and electron microscopic examination showed anterior stromal scarring and markedly reduced new subepithelial collagen formation inmore » the group treated with mitomycin C, corticosteroids, and erythromycin. Focal abnormalities of Descemet's membrane and endothelial abnormalities were present in all treatment groups. Combination therapy with topical steroids, mitomycin C, and erythromycin to control the corneal wound healing response after refractive laser surgery appears promising and warrants further study.« less

Genetics Home Reference: Wolf-Hirschhorn syndrome

MedlinePlus

... syndrome include skin changes such as mottled or dry skin, skeletal abnormalities such as abnormal ... also cause abnormalities of the eyes, heart, genitourinary tract, and brain. A condition called ...

Nanosecond pulsed electric field suppresses development of eyes and germ cells through blocking synthesis of retinoic acid in Medaka (Oryzias latipes).

PubMed

Shiraishi, Eri; Hosseini, Hamid; Kang, Dong K; Kitano, Takeshi; Akiyama, Hidenori

2013-01-01

Application of nanosecond pulsed electric fields (nsPEFs) has attracted rising attention in various scientific fields including medical, pharmacological, and biological sciences, although its effects and molecular mechanisms leading to the effects remain poorly understood. Here, we show that a single, high-intensity (10-30 kV/cm), 60-ns PEF exposure affects gene expression and impairs development of eyes and germ cells in medaka (Oryzias latipes). Exposure of early blastula stage embryos to nsPEF down-regulated the expression of several transcription factors which are essential for eye development, causing abnormal eye formation. Moreover, the majority of the exposed genetic female embryos showed a fewer number of germ cells similar to that of the control (unexposed) genetic male at 9 days post-fertilization (dpf). However, all-trans retinoic acid (atRA) treatment following the exposure rescued proliferation of germ cells and resumption of normal eye development, suggesting that the phenotypes induced by nsPEF are caused by a decrease of retinoic acid levels. These results confirm that nsPEFs induce novel effects during embryogenesis in medaka.

Brown Syndrome

MedlinePlus

... Does Brown syndrome cause eye problems besides abnormal eye movements? In the more severely affected cases of Brown ... acquired and congenital cases. In congenital cases, the eye movement problem is usually constant and unlikely to resolve ...

Mechanisms and management of dry eye in cataract surgery patients.

PubMed

Sutu, Christine; Fukuoka, Hideki; Afshari, Natalie A

2016-01-01

To provide a summary of the mechanisms that may cause dry eye after cataract surgery and discuss available and upcoming treatment modalities. Development or worsening of dry eye symptoms after cataract surgery is multifactorial with corneal nerve transection, inflammation, goblet cell loss, and meibomian gland dysfunction commonly cited as underlying disorders. With increasing awareness of the prevalence of dry eye disease, current surgical techniques are being analyzed for their contribution to the issue. Although many classic interventions, such as artificial tears and anti-inflammatory drops, remain first-line treatment options, they may not adequately address abnormalities of the tear film. The trend has been to create new drugs and technologies that target meibomian gland deficiencies and restore goblet cell numbers. Therapy for postoperative dry eye symptoms should be determined based on symptom severity and which underlying cause is most prominent at a given time. Patients with high-level risk factors for dry eye should be evaluated preoperatively to determine whether they have preexisting dry eye disease or if they are susceptible to developing disease after surgery.

Retinotopic maps and foveal suppression in the visual cortex of amblyopic adults.

PubMed

Conner, Ian P; Odom, J Vernon; Schwartz, Terry L; Mendola, Janine D

2007-08-15

Amblyopia is a developmental visual disorder associated with loss of monocular acuity and sensitivity as well as profound alterations in binocular integration. Abnormal connections in visual cortex are known to underlie this loss, but the extent to which these abnormalities are regionally or retinotopically specific has not been fully determined. This functional magnetic resonance imaging (fMRI) study compared the retinotopic maps in visual cortex produced by each individual eye in 19 adults (7 esotropic strabismics, 6 anisometropes and 6 controls). In our standard viewing condition, the non-tested eye viewed a dichoptic homogeneous mid-level grey stimulus, thereby permitting some degree of binocular interaction. Regions-of-interest analysis was performed for extrafoveal V1, extrafoveal V2 and the foveal representation at the occipital pole. In general, the blood oxygenation level-dependent (BOLD) signal was reduced for the amblyopic eye. At the occipital pole, population receptive fields were shifted to represent more parafoveal locations for the amblyopic eye, compared with the fellow eye, in some subjects. Interestingly, occluding the fellow eye caused an expanded foveal representation for the amblyopic eye in one early-onset strabismic subject with binocular suppression, indicating real-time cortical remapping. In addition, a few subjects actually showed increased activity in parietal and temporal cortex when viewing with the amblyopic eye. We conclude that, even in a heterogeneous population, abnormal early visual experience commonly leads to regionally specific cortical adaptations.

Abnormal Eye Movements in Creutzfeldt-Jakob Disease

NASA Technical Reports Server (NTRS)

Grant, Michael P.; Cohen, Mark; Petersen, Robert B.; Halmagyi, G. Michael; McDougall, Alan; Tusa, Ronald J.; Leigh, R. John

1993-01-01

We report 3 patients with autopsy-proven Creutzfeldt-Jakob disease who, early in their course, developed abnormal eye movements that included periodic alternating nystagmus and slow vertical saccades. These findings suggested involvement of the cerebellar nodulus and uvula, and the brainstem reticular formation, respectively. Cerebellar ataxia was also an early manifestation and, in one patient, a frontal lobe brain biopsy was normal at a time when ocular motor and cerebellar signs were conspicuous. As the disease progressed, all saccades and quick phases of nystagmus were lost, but periodic alternating gaze deviation persisted. At autopsy, 2 of the 3 patients had pronounced involvement of the cerebellum, especially of the midline structures. Creutzfeldt-Jakob disease should be considered in patients with subacute progressive neurological disease when cognitive changes are overshadowed by ocular motor findings or ataxia.

Evaluation of a Myopic Normative Database for Analysis of Retinal Nerve Fiber Layer Thickness.

PubMed

Biswas, Sayantan; Lin, Chen; Leung, Christopher K S

2016-09-01

Analysis of retinal nerve fiber layer (RNFL) abnormalities with optical coherence tomography in eyes with high myopia has been complicated by high rates of false-positive errors. An understanding of whether the application of a myopic normative database can improve the specificity for detection of RNFL abnormalities in eyes with high myopia is relevant. To evaluate the diagnostic performance of a myopic normative database for detection of RNFL abnormalities in eyes with high myopia (spherical equivalent, -6.0 diopters [D] or less). In this cross-sectional study, 180 eyes with high myopia (mean [SD] spherical equivalent, -8.0 [1.8] D) from 180 healthy individuals were included in the myopic normative database. Another 46 eyes with high myopia from healthy individuals (mean [SD] spherical equivalent, -8.1 [1.8] D) and 74 eyes from patients with high myopia and glaucoma (mean [SD] spherical equivalent, -8.3 [1.9] D) were included for evaluation of specificity and sensitivity. The 95th and 99th percentiles of the mean and clock-hour circumpapillary RNFL thicknesses and the individual superpixel thicknesses of the RNFL thickness map measured by spectral-domain optical coherence tomography were calculated from the 180 eyes with high myopia. Participants were recruited from January 2, 2013, to December 30, 2015. The following 6 criteria of RNFL abnormalities were examined: (1) mean circumpapillary RNFL thickness below the lower 95th or (2) the lower 99th percentile; (3) one clock-hour or more for RNFL thickness below the lower 95th or (4) the lower 99th percentile; and (5) twenty contiguous superpixels or more of RNFL thickness in the RNFL thickness map below the lower 95th or (6) the lower 99th percentile. Specificities and sensitivities for detection of RNFL abnormalities. Of the 46 healthy eyes and 74 eyes with glaucoma studied (from 39 men and 38 women), the myopic normative database showed a higher specificity (63.0%-100%) than did the built-in normative database of the optical coherence tomography instrument (8.7%-87.0%) for detection of RNFL abnormalities across all the criteria examined (differences in specificities between 13.0% [95% CI, 1.1%-24.9%; P = .01] and 54.3% [95% CI, 37.8%-70.9%; P < .001]) except for the criterion of mean RNFL thickness below the lower 99th percentile, in which both normative databases had the same specificities (100%) but the myopic normative database exhibited a higher sensitivity (71.6% vs 86.5%; difference in sensitivities, 14.9% [95% CI, 4.6%-25.1%; P = .002]). The application of a myopic normative database improved the specificity without compromising the sensitivity compared with the optical coherence tomography instrument's built-in normative database for detection of RNFL abnormalities in eyes with high myopia. Inclusion of myopic normative databases should be considered in optical coherence tomography instruments.

Genetics Home Reference: Norrie disease

MedlinePlus

... is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina , the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at ...

The case from animal studies for balanced binocular treatment strategies for human amblyopia.

PubMed

Mitchell, Donald E; Duffy, Kevin R

2014-03-01

Although amblyopia typically manifests itself as a monocular condition, its origin has long been linked to unbalanced neural signals from the two eyes during early postnatal development, a view confirmed by studies conducted on animal models in the last 50 years. Despite recognition of its binocular origin, treatment of amblyopia continues to be dominated by a period of patching of the non-amblyopic eye that necessarily hinders binocular co-operation. This review summarizes evidence from three lines of investigation conducted on an animal model of deprivation amblyopia to support the thesis that treatment of amblyopia should instead focus upon procedures that promote and enhance binocular co-operation. First, experiments with mixed daily visual experience in which episodes of abnormal visual input were pitted against normal binocular exposure revealed that short exposures of the latter offset much longer periods of abnormal input to allow normal development of visual acuity in both eyes. Second, experiments on the use of part-time patching revealed that purposeful introduction of episodes of binocular vision each day could be very beneficial. Periods of binocular exposure that represented 30-50% of the daily visual exposure included with daily occlusion of the non-amblyopic could allow recovery of normal vision in the amblyopic eye. Third, very recent experiments demonstrate that a short 10 day period of total darkness can promote very fast and complete recovery of visual acuity in the amblyopic eye of kittens and may represent an example of a class of artificial environments that have similar beneficial effects. Finally, an approach is described to allow timing of events in kitten and human visual system development to be scaled to optimize the ages for therapeutic interventions. © 2014 The Authors Ophthalmic & Physiological Optics © 2014 The College of Optometrists.

Ocular manifestations of xeroderma pigmentosum: long term follow-up highlights the role of DNA repair in protection from sun damage

PubMed Central

Brooks, Brian P; Thompson, Amy H; Bishop, Rachel J; Clayton, Janine A; Chan, Chi-Chao; Tsilou, Ekaterini T; Zein, Wadih M; Tamura, Deborah; Khan, Sikandar G.; Ueda, Takahiro; Boyle, Jennifer; Oh, Kyu-Seon; Imoto, Kyoko; Inui, Hiroki; Moriwaki, Shin-Ichi; Emmert, Steffen; Iliff, Nicholas T.; Bradford, Porcia; DiGiovanna, John J.; Kraemer, Kenneth H

2013-01-01

Objective Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations of XP include mild to extreme sensitivity to ultraviolet radiation resulting in inflammation and neoplasia in sun-exposed areas of the skin, mucous membranes, and ocular surfaces. This report describes the ocular manifestations of XP in patients systematically evaluated in the Clinical Center at the National Institutes of Health. Design Retrospective Observational Case Series Participants Eighty-seven participants, aged 1.3 to 63.4 years, referred to the National Eye Institute for examination from 1964 to 2011. Eighty-three had XP, 3 had XP/Cockayne Syndrome complex, and 1 had XP/trichothiodystrophy complex. Methods Complete, age- and developmental stage-appropriate ophthalmic examination. Main Outcome Measures Visual acuity; eyelid, ocular surface and lens pathology; tear film and tear production measures; and cytological analysis of conjunctival surface swabs. Results Of the 87 patients, 91% had at least one ocular abnormality. The most common abnormalities were conjunctivitis (51%), corneal neovascularization (44%), dry eye (38%), corneal scarring (26%), ectropion (25%), blepharitis (23%), conjunctival melanosis (20%), and cataracts (14%). Thirteen percent of patients had some degree of visual axis impingement and 5% had no light perception in one or both eyes. Ocular surface cancer or a history of ocular surface cancer was present in 10% of patients. Patients with an acute sunburning skin phenotype were less likely to develop conjunctival melanosis and ectropion but more likely to develop neoplastic ocular surface lesions than non-burning patients. Some patients also showed signs of limbal stem cell deficiency. Conclusions Our longitudinal study reports the ocular status of the largest group of XP patients systematically examined at one facility over an extended period of time. Structural eyelid abnormalities, neoplasms of the ocular surface and eyelids, tear film and tear production abnormalities, ocular surface disease and inflammation, as well as corneal abnormalities were present in this population. Burning and non-burning XP patients exhibit different rates of important ophthalmologic findings, including neoplasia. Additionally, ophthalmic characteristics can help refine diagnoses in the case of XP complex phenotypes. DNA repair plays major role in protection of the eye from sunlight induced damage. PMID:23601806

Associations between Language Development and Skin Conductance Responses to Faces and Eye Gaze in Children with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Stagg, Steven D.; Davis, Robert; Heaton, Pamela

2013-01-01

Attention to social stimuli is associated with language development, and arousal is associated with the increased viewing of stimuli. We investigated whether skin conductance responses (SCRs) are associated with language development in autism spectrum disorder (ASD): a population that shows abnormalities in both attention to others and language…

Choroidal thickness in Chinese patients with non-arteritic anterior ischemic optic neuropathy.

PubMed

Jiang, Libin; Chen, Lanlan; Qiu, Xiujuan; Jiang, Ran; Wang, Yaxing; Xu, Liang; Lai, Timothy Y Y

2016-08-31

Non-arteritic anterior ischemic optic neuropathy (NA-AION) is one of the most common types of ischemic optic neuropathy. Several recent studies suggested that abnormalities of choroidal thickness might be associated with NA-AION. The main objective of this case-control study was to evaluate whether choroidal thickness is an ocular risk factor for the development of NA-AION by evaluating the peripapillary and subfoveal choroidal thicknesses in affected Chinese patients. Forty-four Chinese patients with unilateral NA-AION were recruited and compared with 60 eyes of 60 normal age and refractive-error matched control subjects. Peripapillary and subfoveal choroidal thicknesses were measured by enhanced depth imaging optical coherence tomography. Choroidal thicknesses of eyes with NA-AION and unaffected fellow eyes were compared with normal controls. Choroidal thicknesses of NA-AION eyes with or without optic disc edema were also compared. The correlation between choroidal thickness and retinal nerve fiber layer (RNFL) thickness, logMAR best-corrected visual acuity (BCVA), and the mean deviation (MD) of Humphrey static perimetry in NA-AION eyes were analyzed. The peripapillary choroidal thicknesses at the nasal, nasal inferior and temporal inferior segments in NA-AION eyes with optic disc edema were significantly thicker compared with that of normal subjects (P < 0.05). There was no significant difference in the choroidal thicknesses between the unaffected fellow eyes of NA-AION patients and normal eyes of healthy controls; or between the NA-AION eyes with resolved optic disc edema and normal eyes (all P > 0.05). No significant correlation between choroidal thickness and RNFL thickness, logMAR BCVA and perimetry MD was found in eyes affected by NA-AION (all P > 0.05). Increase in peripapillary choroid thickness in some segments was found in NA-ION eyes with optic disc edema. However, our findings do not support the hypothesis that choroidal thickness is abnormal in Chinese patients with NA-AION compared with normal subjects with similar age and refractive error status.

Greek mythology: the eye, ophthalmology, eye disease, and blindness.

PubMed

Trompoukis, Constantinos; Kourkoutas, Dimitrios

2007-06-01

In distant eras, mythology was a form of expression used by many peoples. A study of the Greek myths reveals concealed medical knowledge, in many cases relating to the eye. An analysis was made of the ancient Greek texts for mythological references relating to an understanding of vision, visual abilities, the eye, its congenital and acquired abnormalities, blindness, and eye injuries and their treatment. The Homeric epics contain anatomical descriptions of the eyes and the orbits, and an elementary knowledge of physiology is also apparent. The concept of the visual field can be seen in the myth of Argos Panoptes. Many myths describe external eye disease ("knyzosis"), visual disorders (amaurosis), and cases of blinding that, depending on the story, are ascribed to various causes. In addition, ocular motility abnormalities, congenital anomalies (cyclopia), injuries, and special treatments, such as the "licking" method, are mentioned. The study of mythological references to the eye reveals reliable medical observations of the ancient Greeks, which are concealed within the myths.

Risk Assessment for Corneal Ectasia following Photorefractive Keratectomy

PubMed Central

Kaiserman, Igor; Domniz, Yuval; Sela, Tzahi; Munzer, Gur

2017-01-01

Purpose To analyze the risk factors associated with a series of ectasia cases following photorefractive keratectomy (PRK) and all published cases. Methods In a retrospective study on post-PRK ectasia patients, 9 eyes of 7 patients were included, in addition to 20 eyes of 13 patients from the literature. Risk of post-PRK ectasia was calculated using the ectasia risk score system (ERSS) for laser in situ keratomileusis (LASIK) patients. The percent tissue altered (PTA) was also evaluated. Results ERSS scoring of zero for age, RSB, and spherical equivalent was found in 66%, 86%, and 86% of the eyes, respectively. Pachymetry risk score was 2 in 60% of the eyes and 3 or 4 in 16% of the eyes. Topography risk score was 3 in 41% of the eyes and 4 in 21% of the eyes. Cumulative ectasia risk score was ≥4 (high risk) in 77% of the eyes and ≥3 (medium and high risk) in 86% of the eyes. Average PTA was 23.2 ± 7.0%. All eyes but one had a PTA < 40%. Conclusions Preoperative corneal topographic abnormalities and thin corneas may be significant risk factors for developing ectasia following PRK. Post-LASIK ectasia risk scoring also has relevance in the risk for developing post-PRK ectasia. PMID:28815089

Recognizing patterns of visual field loss using unsupervised machine learning

NASA Astrophysics Data System (ADS)

Yousefi, Siamak; Goldbaum, Michael H.; Zangwill, Linda M.; Medeiros, Felipe A.; Bowd, Christopher

2014-03-01

Glaucoma is a potentially blinding optic neuropathy that results in a decrease in visual sensitivity. Visual field abnormalities (decreased visual sensitivity on psychophysical tests) are the primary means of glaucoma diagnosis. One form of visual field testing is Frequency Doubling Technology (FDT) that tests sensitivity at 52 points within the visual field. Like other psychophysical tests used in clinical practice, FDT results yield specific patterns of defect indicative of the disease. We used Gaussian Mixture Model with Expectation Maximization (GEM), (EM is used to estimate the model parameters) to automatically separate FDT data into clusters of normal and abnormal eyes. Principal component analysis (PCA) was used to decompose each cluster into different axes (patterns). FDT measurements were obtained from 1,190 eyes with normal FDT results and 786 eyes with abnormal (i.e., glaucomatous) FDT results, recruited from a university-based, longitudinal, multi-center, clinical study on glaucoma. The GEM input was the 52-point FDT threshold sensitivities for all eyes. The optimal GEM model separated the FDT fields into 3 clusters. Cluster 1 contained 94% normal fields (94% specificity) and clusters 2 and 3 combined, contained 77% abnormal fields (77% sensitivity). For clusters 1, 2 and 3 the optimal number of PCA-identified axes were 2, 2 and 5, respectively. GEM with PCA successfully separated FDT fields from healthy and glaucoma eyes and identified familiar glaucomatous patterns of loss.

E2F4 is required for early eye patterning.

PubMed

Ruzhynsky, Vladimir A; Furimsky, Marosh; Park, David S; Wallace, Valerie A; Slack, Ruth S

2009-01-01

Increasingly, studies reveal novel functions for cell cycle proteins during development. Here, we investigated the role of E2F4 in eye development. E2F4-deficient mouse embryos exhibit severe early eye patterning defects, which are evident from embryonic day 11.5 and characterized by aberrant shape of the optic cup, coloboma as well as abnormal eye pigmentation. Loss of E2F4 is associated with proximal-distal patterning defects in the optic vesicle. These defects are characterized by the expansion of optic stalk marker gene expression to the optic cup and reduced expression of ventral optic cup markers. These defects are associated with a split of Shh expression domain at the ventral midline of the forebrain and expansion of the Shh activity into the ventral optic cup. Despite these patterning defects, early neuronal differentiation and Shh expression in the retina are not affected by E2F4 deletion. Overall, the results of our studies show a novel role of E2F4 in the early eye development. 2009 S. Karger AG, Basel.

Impaired eye movements in presymptomatic spinocerebellar ataxia type 6.

PubMed

Christova, Peka; Anderson, John H; Gomez, Christopher M

2008-04-01

Early detection of impaired neurological function in neurodegenerative diseases may aid in understanding disease pathogenesis and timing of therapeutic trials. To identify early abnormalities of ocular motor function in individuals who have the spinocerebellar ataxia type 6 (SCA6) gene (CACNA1A) but no clinical symptoms. Physiological techniques were used to record and analyze eye movements and postural sway. Four presymptomatic and 5 ataxic patients with SCA6, genetically identified, and 10 healthy controls. Presymptomatic individuals had normal postural sway but definite ocular motor abnormalities. Two had a low-amplitude horizontal gaze-evoked nystagmus, 1 of whom had a significantly decreased eye velocity for upward saccades and an abnormal frequency of square-wave jerks. Another had abnormal square-wave jerks and a fourth had a reduced gain for pursuit tracking. Not all of the presymptomatic patients had the same findings, but a multivariate analysis discriminated the presymptomatic patients, as a group, from healthy controls and the ataxic patients. Among the earliest functional deficits in SCA6 are eye movement abnormalities, including impaired saccade velocity, saccade metrics, and pursuit gain. This suggests that early functional impairments are caused by cellular dysfunction and/or loss in the posterior cerebellar vermis and flocculus. These findings might help to determine the timing of a treatment and to define variables that could be used as outcome measures for the efficacy of therapeutic trials.

Maximal subtotal extirpation of the horizontal rectus extraocular muscles for the treatment of nystagmus with no null point. A report of four successful human cases.

PubMed

Sinskey, Robert M; Eshete, Almaz

2002-01-01

To evaluate the visual and restoration of normal appearance results of maximal excision of the horizontal rectus muscles in nystagmus patients. Menelik II Hospital, Addis Ababa, Ethiopia and the Sinskey Eye Institute, Santa Monica, California. The medial and lateral rectus muscles were extirpated as far back as possible with an enucleation snare in four patients with horizontal nystagmus. A complete eye examination was performed pre- and postoperatively. Using a camcorder, ocular movements were recorded before surgery, and at postop; days 1 and 40, and months 1, 3 and 10. All four patients had a marked reduction in both abnormal and normal horizontal eye movement, and improvement in objective visual acuity. Postoperative residual intermittent fine horizontal movement was recorded in the left eye in a 6 year old and in both eyes of a 41 year old patient. A residual rotary component was recorded in a 15 year-old patient. The 6 and 9 year-old patients each developed a moderate exotropia. The 15 and 41 year-old patients maintained binocular fusion with some residual ability to converge. Vision increased subjectively in all cases. Subtotal myectomy of the horizontal muscles in horizontal nystagmus with no null point was very effective in improving and/or eliminating horizontal eye movement. Restoration of normal or near normal appearance and improvement in visual acuity occurred in all cases. None of the patients complained of their loss of horizontal gaze and eye movement. More complete myectomy of the muscles should produce total elimination of both normal and abnormal horizontal eye movement including nystagmus.

Retinotopic maps and foveal suppression in the visual cortex of amblyopic adults

PubMed Central

Conner, Ian P; Odom, J Vernon; Schwartz, Terry L; Mendola, Janine D

2007-01-01

Amblyopia is a developmental visual disorder associated with loss of monocular acuity and sensitivity as well as profound alterations in binocular integration. Abnormal connections in visual cortex are known to underlie this loss, but the extent to which these abnormalities are regionally or retinotopically specific has not been fully determined. This functional magnetic resonance imaging (fMRI) study compared the retinotopic maps in visual cortex produced by each individual eye in 19 adults (7 esotropic strabismics, 6 anisometropes and 6 controls). In our standard viewing condition, the non-tested eye viewed a dichoptic homogeneous mid-level grey stimulus, thereby permitting some degree of binocular interaction. Regions-of-interest analysis was performed for extrafoveal V1, extrafoveal V2 and the foveal representation at the occipital pole. In general, the blood oxygenation level-dependent (BOLD) signal was reduced for the amblyopic eye. At the occipital pole, population receptive fields were shifted to represent more parafoveal locations for the amblyopic eye, compared with the fellow eye, in some subjects. Interestingly, occluding the fellow eye caused an expanded foveal representation for the amblyopic eye in one early–onset strabismic subject with binocular suppression, indicating real-time cortical remapping. In addition, a few subjects actually showed increased activity in parietal and temporal cortex when viewing with the amblyopic eye. We conclude that, even in a heterogeneous population, abnormal early visual experience commonly leads to regionally specific cortical adaptations. PMID:17627994

Reading in Schizophrenic Subjects and Their Nonsymptomatic First-Degree Relatives

PubMed Central

Roberts, Eryl O.; Proudlock, Frank A.; Martin, Kate; Reveley, Michael A.; Al-Uzri, Mohammed; Gottlob, Irene

2013-01-01

Previous studies have demonstrated eye movement abnormalities during smooth pursuit and antisaccadic tasks in schizophrenia. However, eye movements have not been investigated during reading. The purpose of this study was to determine whether schizophrenic subjects and their nonsymptomatic first-degree relatives show eye movement abnormalities during reading. Reading rate, number of saccades per line, amplitudes of saccades, percentage regressions (reverse saccades), and fixation durations were measured using an eye tracker (EyeLink, SensoMotoric Instruments, Germany) in 38 schizophrenic volunteers, 14 nonaffected first-degree relatives, and 57 control volunteers matched for age and National Adult Reading Test scores. Parameters were examined when volunteers read full pages of text and text was limited to progressively smaller viewing areas around the point of fixation using a gaze-contingent window. Schizophrenic volunteers showed significantly slower reading rates (P = .004), increase in total number of saccades (P ≤ .001), and a decrease in saccadic amplitude (P = .025) while reading. Relatives showed a significant increase in total number of saccades (P = .013) and decrease in saccadic amplitude (P = .020). Limitation of parafoveal information by reducing the amount of visible characters did not change the reading rate of schizophrenics but controls showed a significant decrease in reading rate with reduced parafoveal information (P < .001). Eye movement abnormalities during reading of schizophrenic volunteers and their first-degree relatives suggest that visual integration of foveal and parafoveal information may be reduced in schizophrenia. Reading abnormalities in relatives suggest a genetic influence in reading ability in schizophrenia and rule out confounding effects of medication. PMID:22267532

GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients.

PubMed

Desai, Neelu A; Udani, Vrajesh

2015-11-01

Bilateral frontoparietal polymicrogyria is an autosomal recessive cortical malformation associated with abnormalities of neuronal migration, white matter changes, and mild brainstem and cerebellar abnormalities. Affected patients present with delayed milestones, intellectual disability, epilepsy, ataxia, and eye movement abnormalities. The clinicoradiologic profile resembles congenital muscular dystrophy. However, no muscle disease or characteristic eye abnormalities of congenial muscular dystrophy are detected in these children. GPR56 is the only confirmed gene associated with bilateral frontoparietal polymicrogyria. Antenatal diagnosis is possible if the index case is genetically confirmed. Four patients from different Indian families with a distinct clinicoradiologic profile resembling congenital muscular dystrophy with mutations in the GPR56 gene are described. © The Author(s) 2015.

Racial differences and other risk factors for incidence and progression of age-related macular degeneration: Salisbury Eye Evaluation (SEE) Project.

PubMed

Chang, Margaret A; Bressler, Susan B; Munoz, Beatriz; West, Sheila K

2008-06-01

To evaluate risk factors for the incidence and progression of age-related macular degeneration (AMD) in a racially heterogeneous, geriatric population. Subjects (n = 2240) aged 65 to 84 years underwent 2 examinations separated by 2 years, of which 1937 subjects (85%) were included in this report. Fundus photographs were performed at each examination and were graded by trained readers. Multivariate logistic regression models adjusted for age, sex, race, and clustering between eyes were used to evaluate risk factors for AMD incidence and progression. Smoking was a strong, dose-dependent, risk factor for progression from medium size drusen to large drusen or pigmentary abnormalities within the central 1500-microm macular zone. Smoking was also a strong risk factor for development of incident focal pigmentation within 3000 microm of the foveal center. White participants were significantly more likely than blacks to develop large drusen and focal pigmentation and to progress from medium- to large-sized drusen or pigment abnormalities within the central 1500 microm macular zone. However, whites did not have an increased risk of progression from large drusen or pigment abnormalities within the central 1500-microm perimacular zone to foveal GA or CNV when compared with blacks. Smoking and race are important risk factors for progression from medium to large drusen or to pigment abnormalities within the central 1500-microm macular zone. Limitations in the power of this study preclude assessment of the roles of smoking and race on the ultimate progression to foveal GA or CNV once central large drusen or pigment abnormalities are present.

Dorsal midbrain syndrome associated with persistent neck extension: Clinical and diagnostic imaging findings in 2 dogs

PubMed Central

Canal, Sara; Baroni, Massimo; Falzone, Cristian; De Benedictis, Giulia M.; Bernardini, Marco

2015-01-01

Two young dogs were evaluated for an acute onset of abnormal head posture and eye movement. Neurological examination was characterized mostly by permanent neck extension, abnormalities of pupils, and eye movement. A mesencephalic mass lesion was detected on magnetic resonance imaging in both cases. Neurophysiological pathways likely responsible for this peculiar clinical presentation are discussed. PMID:26663922

Cognitive processing of orientation discrimination in anisometropic amblyopia.

PubMed

Wang, Jianglan; Zhao, Jiao; Wang, Shoujing; Gong, Rui; Zheng, Zhong; Liu, Longqian

2017-01-01

Cognition is very important in our daily life. However, amblyopia has abnormal visual cognition. Physiological changes of the brain during processes of cognition could be reflected with ERPs. So the purpose of this study was to investigate the speed and the capacity of resource allocation in visual cognitive processing in orientation discrimination task during monocular and binocular viewing conditions of amblyopia and normal control as well as the corresponding eyes of the two groups with ERPs. We also sought to investigate whether the speed and the capacity of resource allocation in visual cognitive processing vary with target stimuli at different spatial frequencies (3, 6 and 9 cpd) in amblyopia and normal control as well as between the corresponding eyes of the two groups. Fifteen mild to moderate anisometropic amblyopes and ten normal controls were recruited. Three-stimulus oddball paradigms of three different spatial frequency orientation discrimination tasks were used in monocular and binocular conditions in amblyopes and normal controls to elicit event-related potentials (ERPs). Accuracy (ACC), reaction time (RT), the latency of novelty P300 and P3b, and the amplitude of novelty P300 and P3b were measured. Results showed that RT was longer in the amblyopic eye than in both eyes of amblyopia and non-dominant eye in control. Novelty P300 amplitude was largest in the amblyopic eye, followed by the fellow eye, and smallest in both eyes of amblyopia. Novelty P300 amplitude was larger in the amblyopic eye than non-dominant eye and was larger in fellow eye than dominant eye. P3b latency was longer in the amblyopic eye than in the fellow eye, both eyes of amblyopia and non-dominant eye of control. P3b latency was not associated with RT in amblyopia. Neural responses of the amblyopic eye are abnormal at the middle and late stages of cognitive processing, indicating that the amblyopic eye needs to spend more time or integrate more resources to process the same visual task. Fellow eye and both eyes in amblyopia are slightly different from the dominant eye and both eyes in normal control at the middle and late stages of cognitive processing. Meanwhile, abnormal extents of amblyopic eye do not vary with three different spatial frequencies used in our study.

Cognitive processing of orientation discrimination in anisometropic amblyopia

PubMed Central

Wang, Jianglan; Zhao, Jiao; Wang, Shoujing; Gong, Rui; Zheng, Zhong; Liu, Longqian

2017-01-01

Cognition is very important in our daily life. However, amblyopia has abnormal visual cognition. Physiological changes of the brain during processes of cognition could be reflected with ERPs. So the purpose of this study was to investigate the speed and the capacity of resource allocation in visual cognitive processing in orientation discrimination task during monocular and binocular viewing conditions of amblyopia and normal control as well as the corresponding eyes of the two groups with ERPs. We also sought to investigate whether the speed and the capacity of resource allocation in visual cognitive processing vary with target stimuli at different spatial frequencies (3, 6 and 9 cpd) in amblyopia and normal control as well as between the corresponding eyes of the two groups. Fifteen mild to moderate anisometropic amblyopes and ten normal controls were recruited. Three-stimulus oddball paradigms of three different spatial frequency orientation discrimination tasks were used in monocular and binocular conditions in amblyopes and normal controls to elicit event-related potentials (ERPs). Accuracy (ACC), reaction time (RT), the latency of novelty P300 and P3b, and the amplitude of novelty P300 and P3b were measured. Results showed that RT was longer in the amblyopic eye than in both eyes of amblyopia and non-dominant eye in control. Novelty P300 amplitude was largest in the amblyopic eye, followed by the fellow eye, and smallest in both eyes of amblyopia. Novelty P300 amplitude was larger in the amblyopic eye than non-dominant eye and was larger in fellow eye than dominant eye. P3b latency was longer in the amblyopic eye than in the fellow eye, both eyes of amblyopia and non-dominant eye of control. P3b latency was not associated with RT in amblyopia. Neural responses of the amblyopic eye are abnormal at the middle and late stages of cognitive processing, indicating that the amblyopic eye needs to spend more time or integrate more resources to process the same visual task. Fellow eye and both eyes in amblyopia are slightly different from the dominant eye and both eyes in normal control at the middle and late stages of cognitive processing. Meanwhile, abnormal extents of amblyopic eye do not vary with three different spatial frequencies used in our study. PMID:29023501

Abnormal Head Position in Infantile Nystagmus Syndrome

PubMed Central

Noval, Susana; González-Manrique, Mar; Rodríguez-Del Valle, José María; Rodríguez-Sánchez, José María

2011-01-01

Infantile nystagmus is an involuntary, bilateral, conjugate, and rhythmic oscillation of the eyes which is present at birth or develops within the first 6 months of life. It may be pendular or jerk-like and, its intensity usually increases in lateral gaze, decreasing with convergence. Up to 64% of all patients with nystagmus also present strabismus, and even more patients have an abnormal head position. The abnormal head positions are more often horizontal, but they may also be vertical or take the form of a tilt, even though the nystagmus itself is horizontal. The aim of this article is to review available information about the origin and treatment of the abnormal head position associated to nystagmus, and to describe our treatment strategies. PMID:24533187

High-resolution imaging of retinal nerve fiber bundles in glaucoma using adaptive optics scanning laser ophthalmoscopy.

PubMed

Takayama, Kohei; Ooto, Sotaro; Hangai, Masanori; Ueda-Arakawa, Naoko; Yoshida, Sachiko; Akagi, Tadamichi; Ikeda, Hanako Ohashi; Nonaka, Atsushi; Hanebuchi, Masaaki; Inoue, Takashi; Yoshimura, Nagahisa

2013-05-01

To detect pathologic changes in retinal nerve fiber bundles in glaucomatous eyes seen on images obtained by adaptive optics (AO) scanning laser ophthalmoscopy (AO SLO). Prospective cross-sectional study. Twenty-eight eyes of 28 patients with open-angle glaucoma and 21 normal eyes of 21 volunteer subjects underwent a full ophthalmologic examination, visual field testing using a Humphrey Field Analyzer, fundus photography, red-free SLO imaging, spectral-domain optical coherence tomography, and imaging with an original prototype AO SLO system. The AO SLO images showed many hyperreflective bundles suggesting nerve fiber bundles. In glaucomatous eyes, the nerve fiber bundles were narrower than in normal eyes, and the nerve fiber layer thickness was correlated with the nerve fiber bundle widths on AO SLO (P < .001). In the nerve fiber layer defect area on fundus photography, the nerve fiber bundles on AO SLO were narrower compared with those in normal eyes (P < .001). At 60 degrees on the inferior temporal side of the optic disc, the nerve fiber bundle width was significantly lower, even in areas without nerve fiber layer defect, in eyes with glaucomatous eyes compared with normal eyes (P = .026). The mean deviations of each cluster in visual field testing were correlated with the corresponding nerve fiber bundle widths (P = .017). AO SLO images showed reduced nerve fiber bundle widths both in clinically normal and abnormal areas of glaucomatous eyes, and these abnormalities were associated with visual field defects, suggesting that AO SLO may be useful for detecting early nerve fiber bundle abnormalities associated with loss of visual function. Copyright © 2013 Elsevier Inc. All rights reserved.

Toward an Understanding of Divergent Compound Eye Development in Drones and Workers of the Honeybee (Apis mellifera L.): A Correlative Analysis of Morphology and Gene Expression.

PubMed

Marco Antonio, David S; Hartfelder, Klaus

2017-01-01

Eye development in insects is best understood in Drosophila melanogaster, but little is known for other holometabolous insects. Combining a morphological with a gene expression analysis, we investigated eye development in the honeybee, putting emphasis on the sex-specific differences in eye size. Optic lobe development starts from an optic lobe anlage in the larval brain, which sequentially gives rise to the lobula, medulla, and lamina. The lamina differentiates in the last larval instar, when it receives optic nerve projections from the developing retina. The expression analysis focused on seven genes important for Drosophila eye development: eyes absent, sine oculis, embryonic lethal abnormal vision, minibrain, small optic lobes, epidermal growth factor receptor, and roughest. All except small optic lobes were more highly expressed in third-instar drone larvae, but then, in the fourth and fifth instar, their expression was sex-specifically modulated, showing shifts in temporal dynamics. The clearest differences were seen for small optic lobes, which is highly expressed in the developing eye of workers, and minibrain and roughest, which showed a strong expression peak coinciding with retina differentiation. A microarray analysis for optic lobe/retina complexes revealed the differential expression of several metabolism-related genes, as well as of two micro-RNAs. While we could not see major morphological differences in the developing eye structures before the pupal stage, the expression differences observed for the seven candidate genes and in the transcriptional microarray profiles indicate that molecular signatures underlying sex-specific optic lobe and retina development become established throughout the larval stages. © 2016 Wiley Periodicals, Inc.

Amblyopic deficits in detecting a dotted line in noise.

PubMed

Mussap, A J; Levi, D M

2000-01-01

We compared detectability of a dotted line masked by random-dot noise for the amblyopic versus non-amblyopic eye of two strabismic amblyopes. Small but consistent deficits in the amblyopic eye of these observers were found, and shown to be limited to dotted-line targets composed of greater than seven dots (with performance being normal for targets of less than seven dots). These deficits were unrelated to impaired visual acuity, impaired sensitivity to dot density, and differential positional uncertainty between the eyes of our observers. The deficits were also unlikely to be due to CSF losses due to abnormal low-spatial-frequency filters involved in detecting long chains of collinear dots. Instead, the results of simulations indicate that the inefficiency in utilising large numbers of dots is due to deficits of global, integrative processes in strabismic amblyopes. These simulations also show that while neither undersampling nor positional uncertainty of inputs into integrative processes can themselves account for the amblyopic deficits, if such abnormal inputs lead to the development of stunted integrative processes then impaired sensitivity to long chains of collinear dots is indeed predicted.

Ocular Surface Disease in Glaucoma: Effect of Polypharmacy and Preservatives.

PubMed

Ramli, Norlina; Supramaniam, Gowri; Samsudin, Amir; Juana, Azida; Zahari, Mimiwati; Choo, May May

2015-09-01

To evaluate the prevalence of ocular surface disease (OSD) in glaucoma and nonglaucoma subjects using different clinical tests and to determine the effect of number of antiglaucoma medications and preservatives on OSD. This is a cross-sectional, case-comparison study at the Eye Clinic of the University of Malaya Medical Centre, Malaysia, between June 2012 and January 2013. Glaucoma subjects (n = 105) using topical antiglaucoma medications were compared with control subjects (n = 102) who were not on any topical medications. The presence of OSD was assessed using the tear film breakup time (TBUT) test, corneal staining, Schirmer test, and Ocular Surface Disease Index (OSDI) questionnaire grading. The prevalence of OSD varied from 37 to 91% in the glaucoma group, depending on the type of clinical test. More subjects in the glaucoma group had corneal staining (63% vs. 36%, p = 0.004), abnormal Schirmer tests (39% vs. 25%, p = 0.049), and moderate OSDI symptoms (17% vs. 7%, p = 0.028). The percentage with abnormal TBUT increased with higher numbers of topical medications and was high with both benzalkonium chloride-containing and preservative-free eye drops (90% and 94%, respectively, both p < 0.001). Benzalkonium chloride was associated with a nearly three times higher odds ratio of showing abnormal OSDI. Ocular surface disease is common in those using topical antiglaucoma medications. Abnormal TBUT is associated with increasing number of eye drops and benzalkonium chloride-containing eye drops, although this also occurs with the use of preservative-free eye drops.

Normal versus High Tension Glaucoma: A Comparison of Functional and Structural Defects

PubMed Central

Thonginnetra, Oraorn; Greenstein, Vivienne C.; Chu, David; Liebmann, Jeffrey M.; Ritch, Robert; Hood, Donald C.

2009-01-01

Purpose To compare visual field defects obtained with both multifocal visual evoked potential (mfVEP) and Humphrey visual field (HVF) techniques to topographic optic disc measurements in patients with normal tension glaucoma (NTG) and high tension glaucoma (HTG). Methods We studied 32 patients with NTG and 32 with HTG. All patients had reliable 24-2 HVFs with a mean deviation (MD) of −10 dB or better, a glaucomatous optic disc and an abnormal HVF in at least one eye. Multifocal VEPs were obtained from each eye and probability plots created. The mfVEP and HVF probability plots were divided into a central 10-degree (radius) and an outer arcuate subfield in both superior and inferior hemifields. Cluster analyses and counts of abnormal points were performed in each subfield. Optic disc images were obtained with the Heidelberg Retina Tomograph III (HRT III). Eleven stereometric parameters were calculated. Moorfields regression analysis (MRA) and the glaucoma probability score (GPS) were performed. Results There were no significant differences in MD and PSD values between NTG and HTG eyes. However, NTG eyes had a higher percentage of abnormal test points and clusters of abnormal points in the central subfields on both mfVEP and HVF than HTG eyes. For HRT III, there were no significant differences in the 11 stereometric parameters or in the MRA and GPS analyses of the optic disc images. Conclusions The visual field data suggest more localized and central defects for NTG than HTG. PMID:19223786

Sma- and Mad-related protein 7 (Smad7) is required for embryonic eye development in the mouse.

PubMed

Zhang, Rui; Huang, Heng; Cao, Peijuan; Wang, Zhenzhen; Chen, Yan; Pan, Yi

2013-04-12

Smad7 is an intracellular inhibitory protein that antagonizes the signaling of TGF-β family members. Deletion of Smad7 in the mouse leads to an abnormality in heart development. However, whether Smad7 has a functional role in the development of other organs has been elusive. Here we present evidence that Smad7 imparts a role to eye development in the mouse. Smad7 is expressed in both the lens and retina in the developing embryonic eye. Depletion of Smad7 caused various degrees of coloboma and microphthalmia with alterations in cell apoptosis and proliferation in eyes. Smad7 was implicated in lens differentiation but was not required for the induction of the lens placode. The development of the periocular mesenchyme was retarded with the down-regulation of Bmp7 and Pitx2 in mutant mice. Retinal spatial patterning was affected by Smad7 deletion and was accompanied by altered bone morphogenetic protein (BMP) signaling. At late gestation stages, TGF-β signaling was up-regulated in the differentiating retina. Smad7 mutant mice displayed an expanded optic disc with increasing of sonic hedgehog (SHH) signaling. Furthermore, loss of Smad7 led to a temporal change in retinal neurogenesis. In conclusion, our study suggests that Smad7 is essential for eye development. In addition, our data indicate that alterations in the signaling of BMP, TGF-β, and SHH likely underlie the defects in eye development caused by Smad7 deletion.

Eye examination in the cat: Step-by-step approach and common findings.

PubMed

Stiles, Jean; Kimmitt, Beth

2016-09-01

The ability to perform a complete eye examination in the cat is critically important for patients with an ocular disorder or a systemic disease, as well as for the geriatric cat. Cats may need short breaks between portions of the eye exam in order to minimize stress. For the clinician, use of ophthalmic equipment and interpretation of normal vs abnormal findings may take some practice in order to develop proficiency. This review is aimed at veterinary practitioners and outlines all the steps and equipment necessary to perform a complete ophthalmic examination in the cat. Although some specialized equipment is required, a complete eye exam can be performed with a modest investment in equipment and supplies. This article draws on published references for normal parameters measured in the feline eye exam, as well as the experience of the authors. © The Author(s) 2016.

Regional Differences in Tear Film Stability and Meibomian Glands in Patients With Aqueous-Deficient Dry Eye.

PubMed

Koh, Shizuka; Ikeda, Chikako; Fujimoto, Hisataka; Oie, Yoshinori; Soma, Takeshi; Maeda, Naoyuki; Nishida, Kohji

2016-07-01

To noninvasively investigate regional differences in tear film stability and meibomian glands in patients with aqueous-deficient dry eye. Forty-nine dry eyes and 31 normal eyes were analyzed. A corneal topographer with a tear film scanning function was used for noninvasive tear film break-up time (NI-TFBUT) measurements and meibomian gland observations. The NI-TFBUT values and location of the first tear film break-up point were recorded in four quadrants. Meibomian gland loss was graded for each eyelid using meiboscores. Lid margin abnormality was scored from zero to four according to the number of existing abnormalities. The NI-TFBUT values and meiboscores were compared between two groups, and regional differences in NI-TFBUT values and meiboscores were analyzed. Also, the correlation between the NI-TFBUT and ocular surface examination results were investigated. The NI-TFBUT values and meiboscores were significantly lower and higher, respectively, for the dry eye group than for the normal group. In the dry eye group, the occurrence rate for first tear film break-up was the highest in the inferior nasal quadrant, and the mean meiboscore was significantly higher for the upper eyelids than for the lower eyelids. The NI-TFBUT and lid margin abnormality scores showed a weak negative correlation, and the NI-TFBUT values and meiboscores showed no correlation. Compared to normal eyes, aqueous-deficient dry eyes show significant regional differences in tear film stability and meibomian glands. Considering these regional differences, the overall observation of the ocular surface, including both upper and lower eyelids, will aid clinicians in understanding this condition better.

Eye movement abnormalities in hermansky-pudlak syndrome.

PubMed

Gradstein, Libe; FitzGibbon, Edmond J; Tsilou, Ekaterini T; Rubin, Benjamin I; Huizing, Marjan; Gahl, William A

2005-08-01

Hermansky-Pudlak Syndrome (HPS) is a type of oculocutaneous albinism associated with a bleeding diathesis and pulmonary fibrosis. Although it is known that patients with HPS exhibit nystagmus, the nature of these abnormal eye movements has not been studied. Twenty-seven patients with HPS, diagnosed by platelet morphology and genetic analysis, underwent a systemic evaluation and complete eye examination. Twenty-five had eye movement recordings using magnetic search coil, infrared, or video oculography. All patients had iris transillumination, foveal hypoplasia, and variable hypopigmentation in skin and eyes. All had bleeding tendencies, and 2 reported excessive bleeding during strabismus surgery. Nine patients had pulmonary fibrosis. Visual acuities ranged from 20/20- to 20/320. Twenty patients had strabismus despite 6 having strabismus surgery previously. Ocular oscillations consistent with congenital nystagmus (CN) were clinically evident in 24 of 27 patients, and half showed periodic alternating nystagmus. In 3 patients without CN, eye movement recordings revealed minimal end-gaze nystagmus, square-wave jerks, drift during fixation and saccades, and low-gain pursuit. These patients had melanin in the posterior pole and better visual acuities than the others (P = 0.002). Most patients with HPS have CN, and many have periodic alternating nystagmus. Some have subtle eye movement abnormalities without clinically evident nystagmus, which can obscure the diagnosis, especially if hypopigmentation is mild. Absence of clinical nystagmus in a child with HPS suggests good vision. Patients with albinism, especially before surgery, should be evaluated for HPS to prevent life-threatening complications.

FOUR-YEAR INCIDENCE AND PROGRESSION OF AGE-RELATED MACULAR DEGENERATION: THE LOS ANGELES LATINO EYE STUDY

PubMed Central

Varma, Rohit; Foong, Athena W.P.; Lai, Mei-Ying; Choudhury, Farzana; Klein, Ronald; Azen, Stanley P.

2011-01-01

Purpose To estimate 4-year incidence and progression of early and advanced age-related macular degeneration (AMD). Design Population-based cohort study. Methods A comprehensive ophthalmologic examination including stereoscopic fundus photography was performed on adult Latinos at baseline and follow-up. Photographs were graded using a modified Wisconsin Age-Related Maculopathy Grading System. For estimations of incidence and progression of AMD, the Age Related Eye Disease Study Scale was used. Main outcome measures are incidence and progression of early AMD (drusen type, drusen size, and retinal pigmentary abnormalities) and advanced AMD (exudative AMD and geographic atrophy). Results 4,658/6100 (76%) completed the follow-up examination. The 4-year incidence of early AMD was 7.5% (95%CI:6.6,8.4) and advanced AMD was 0.2% (95%CI:0.1,0.4). Progression of any AMD occurred in 9.3% (95%CI:8.4,10.3) of at-risk participants. Incidence and progression increased with age. Incidence of early AMD in the second eye (10.8%) was higher than incidence in the first eye (6.9%). Baseline presence of soft indistinct large drusen≥250μm in diameter was more likely to predict the 4-year incidence of pigmentary abnormalities, geographic atrophy, and exudative AMD than smaller or hard or soft distinct drusen. Conclusions Age-specific incidence and progression of AMD in Latinos are lower than in non-Hispanic whites. While incident early AMD is more often unilateral, the risk of its development in the second is higher than in the first eye. Older persons and those with soft indistinct large drusen had a higher risk of developing advanced AMD compared to those who were younger and did not have soft indistinct large drusen. PMID:20399926

Developmental visual perception deficits with no indications of prosopagnosia in a child with abnormal eye movements.

PubMed

Gilaie-Dotan, Sharon; Doron, Ravid

2017-06-01

Visual categories are associated with eccentricity biases in high-order visual cortex: Faces and reading with foveally-biased regions, while common objects and space with mid- and peripherally-biased regions. As face perception and reading are among the most challenging human visual skills, and are often regarded as the peak achievements of a distributed neural network supporting common objects perception, it is unclear why objects, which also rely on foveal vision to be processed, are associated with mid-peripheral rather than with a foveal bias. Here, we studied BN, a 9 y.o. boy who has normal basic-level vision, abnormal (limited) oculomotor pursuit and saccades, and shows developmental object and contour integration deficits but with no indication of prosopagnosia. Although we cannot infer causation from the data presented here, we suggest that normal pursuit and saccades could be critical for the development of contour integration and object perception. While faces and perhaps reading, when fixated upon, take up a small portion of central visual field and require only small eye movements to be properly processed, common objects typically prevail in mid-peripheral visual field and rely on longer-distance voluntary eye movements as saccades to be brought to fixation. While retinal information feeds into early visual cortex in an eccentricity orderly manner, we hypothesize that propagation of non-foveal information to mid and high-order visual cortex critically relies on circuitry involving eye movements. Limited or atypical eye movements, as in the case of BN, may hinder normal information flow to mid-eccentricity biased high-order visual cortex, adversely affecting its development and consequently inducing visual perceptual deficits predominantly for categories associated with these regions. Copyright © 2017 Elsevier Ltd. All rights reserved.

Implications of comorbidity for genetic studies of bipolar disorder: P300 and eye tracking as biological markers for illness.

PubMed

Blackwood, D H; Sharp, C W; Walker, M T; Doody, G A; Glabus, M F; Muir, W J

1996-06-01

In large families with affective illness, identification of a biological variable is needed that reflects brain dysfunction at an earlier point than symptom development. Eye movement disorder, a possible vulnerability marker in schizophrenia, is less clearly associated with affective illness, although a subgroup of affective disorders shows smooth-pursuit eye movement disorder. The auditory P300 event-related potential may be a useful marker for risk to schizophrenia, but a role in bipolar illness is less certain. The distribution of these two biological variables and their association with symptoms in two multiply affected bipolar families is described. In a single, five-generation family identified for linkage studies through two bipolar I (BPI) probands, 128 members (including 20 spouses) were interviewed. The 108 related individuals had diagnoses of BPI (7), bipolar II (2), cyclothymia (3), or major depressive disorder (19). Eight others had generalised anxiety (1), minor depression (5), intermittent depression (1), or alcoholism (1). Sixty-nine subjects had no psychiatric diagnosis. P300 latency (81) and eye tracking (71) were recorded from a subgroup of relatives within the pedigree. Eye tracking was abnormal in 11 of 71 relatives (15.5%) and was bimodally distributed. In these 11 relatives, clinical diagnoses included minor depression (1), alcoholism (1) and generalised anxiety disorder (1). P300 latency was normally distributed and did not differ from controls. In a second family in which five of seven siblings have BPI illness, P300 latency and eye movement disorder were found in affected relatives and in some unaffected offspring. In these large families, clinical diagnoses of general anxiety, alcoholism and minor depression, when associated with eye tracking abnormality, may be considered alternative clinical manifestations of the same trait that in other relatives is expressed as bipolar illness.

Consistent abnormalities in metabolic network activity in idiopathic rapid eye movement sleep behaviour disorder.

PubMed

Wu, Ping; Yu, Huan; Peng, Shichun; Dauvilliers, Yves; Wang, Jian; Ge, Jingjie; Zhang, Huiwei; Eidelberg, David; Ma, Yilong; Zuo, Chuantao

2014-12-01

Rapid eye movement sleep behaviour disorder has been evaluated using Parkinson's disease-related metabolic network. It is unknown whether this disorder is itself associated with a unique metabolic network. 18F-fluorodeoxyglucose positron emission tomography was performed in 21 patients (age 65.0±5.6 years) with idiopathic rapid eye movement sleep behaviour disorder and 21 age/gender-matched healthy control subjects (age 62.5±7.5 years) to identify a disease-related pattern and examine its evolution in 21 hemi-parkinsonian patients (age 62.6±5.0 years) and 16 moderate parkinsonian patients (age 56.9±12.2 years). We identified a rapid eye movement sleep behaviour disorder-related metabolic network characterized by increased activity in pons, thalamus, medial frontal and sensorimotor areas, hippocampus, supramarginal and inferior temporal gyri, and posterior cerebellum, with decreased activity in occipital and superior temporal regions. Compared to the healthy control subjects, network expressions were elevated (P<0.0001) in the patients with this disorder and in the parkinsonian cohorts but decreased with disease progression. Parkinson's disease-related network activity was also elevated (P<0.0001) in the patients with rapid eye movement sleep behaviour disorder but lower than in the hemi-parkinsonian cohort. Abnormal metabolic networks may provide markers of idiopathic rapid eye movement sleep behaviour disorder to identify those at higher risk to develop neurodegenerative parkinsonism. © The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Saccades and Vergence Performance in a Population of Children with Vertigo and Clinically Assessed Abnormal Vergence Capabilities

PubMed Central

Bucci, Maria Pia; Kapoula, Zoï; Bui-Quoc, Emmanuel; Bouet, Aurelie; Wiener-Vacher, Sylvette

2011-01-01

Purpose Early studies reported some abnormalities in saccade and vergence eye movements in children with vertigo and vergence deficiencies. The purpose of this study was to further examine saccade and vergence performance in a population of 44 children (mean age: 12.3±1.6 years) with vertigo symptoms and with different levels of vergence abnormalities, as assessed by static orthoptic examination (near point of convergence, prism bar and cover-uncover test). Methods Three groups were identified on the basis of the orthoptic tests: group 1 (n = 13) with vergence spasms and mildly perturbed orthoptic scores, group 2 (n = 14) with moderately perturbed orthoptic scores, and group 3 (n = 17) with severely perturbed orthoptic scores. Data were compared to those recorded from 28 healthy children of similar ages. Latency, accuracy and peak velocity of saccades and vergence movements were measured in two different conditions: gap (fixation offset 200 ms prior to target onset) and simultaneous paradigms. Binocular horizontal movements were recorded by a photoelectric device. Results Group 2 of children with vergence abnormalities showed significantly longer latency than normal children in several types of eye movements recorded. For all three groups of children with vergence abnormalities, the gain was poor, particularly for vergence movement. The peak velocity values did not differ between the different groups of children examined. Interpretation Eye movement measures together with static orthoptic evaluation allowed us to better identify children with vergence abnormalities based on their slow initiation of eye movements. Overall, these findings support the hypothesis of a central deficit in the programming and triggering of saccades and vergence in these children. PMID:21858007

Physiological implications of the abnormal absence of the parietal foramen in a late Permian cynodont (Therapsida)

NASA Astrophysics Data System (ADS)

Benoit, Julien; Abdala, Fernando; Van den Brandt, Marc J.; Manger, Paul R.; Rubidge, Bruce S.

2015-12-01

The third eye (pineal eye), an organ responsible for regulating exposure to sunlight in extant ectotherms, is located in an opening on the dorsal surface of the skull, the parietal foramen. The parietal foramen is absent in extant mammals but often observed in basal therapsids, the stem-group to true mammals. Here, we report the absence of the parietal foramen in a specimen of Cynosaurus suppostus, a Late Permian cynodont from South Africa (SA). Comparison with Procynosuchus delaharpeae, a contemporaneous non-mammalian cynodont from SA, demonstrates that the absence of this foramen is an abnormal condition for such a basal species. Because seasonality was marked during the Late Permian in SA, it is proposed that the third eye was functionally redundant in Cynosaurus, possibly due to the acquisition of better thermoregulation or the evolution of specialized cells in the lateral eyes to compensate for the role of the third eye.

Rapid Eye Movement Sleep Abnormalities in Children with Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS)

PubMed Central

Gaughan, Thomas; Buckley, Ashura; Hommer, Rebecca; Grant, Paul; Williams, Kyle; Leckman, James F.; Swedo, Susan E.

2016-01-01

Study Objectives: Polysomnographic investigation of sleep architecture in children presenting with pediatric acute-onset neuropsychiatric syndrome (PANS). Methods: Fifteen consecutive subjects meeting criteria for PANS (mean age = 7.2 y; range 3–10 y) underwent single-night full polysomnography (PSG) read by a pediatric neurologist. Results: Thirteen of 15 subjects (87%) had abnormalities detected with PSG. Twelve of 15 had evidence of rapid eye movement (REM) sleep motor disinhibition, as characterized by excessive movement, laughing, hand stereotypies, moaning, or the continuation of periodic limb movements during sleep (PLMS) into REM sleep. Conclusions: This study shows various forms of REM sleep motor disinhibition present in a population of children with PANS. Citation: Gaughan T, Buckley A, Hommer R, Grant P; Williams K, Leckman JF, Swedo SE. Rapid eye movement sleep abnormalities in children with pediatric acute-onset neuropsychiatric syndrome (PANS). J Clin Sleep Med 2016;12(7):1027–1032. PMID:27166296

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

PubMed

Bakrania, P; Robinson, D O; Bunyan, D J; Salt, A; Martin, A; Crolla, J A; Wyatt, A; Fielder, A; Ainsworth, J; Moore, A; Read, S; Uddin, J; Laws, D; Pascuel-Salcedo, D; Ayuso, C; Allen, L; Collin, J R O; Ragge, N K

2007-11-01

Developmental eye anomalies, which include anophthalmia (absent eye) or microphthalmia (small eye) are an important cause of severe visual impairment in infants and young children. Heterozygous mutations in SOX2, a SOX1B-HMG box transcription factor, have been found in up to 10% of individuals with severe microphthalmia or anophthalmia and such mutations could also be associated with a range of non-ocular abnormalities. We performed mutation analysis on a new cohort of 120 patients with congenital eye abnormalities, mainly anophthalmia, microphthalmia and coloboma. Multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridisation (FISH) were used to detect whole gene deletion. We identified four novel intragenic SOX2 mutations (one single base deletion, one single base duplication and two point mutations generating premature translational termination codons) and two further cases with the previously reported c.70del20 mutation. Of 52 patients with severe microphthalmia or anophthalmia analysed by MLPA, 5 were found to be deleted for the whole SOX2 gene and 1 had a partial deletion. In two of these, FISH studies identified sub-microscopic deletions involving a minimum of 328 Kb and 550 Kb. The SOX2 phenotypes include a patient with anophthalmia, oesophageal abnormalities and horseshoe kidney, and a patient with a retinal dystrophy implicating SOX2 in retinal development. Our results provide further evidence that SOX2 haploinsufficiency is a common cause of severe developmental ocular malformations and that background genetic variation determines the varying phenotypes. Given the high incidence of whole gene deletion we recommend that all patients with severe microphthalmia or anophthalmia, including unilateral cases be screened by MLPA and FISH for SOX2 deletions.

Simulating Photo-Refraction Images of Keratoconus and Near-Sightedness Eyes

NASA Astrophysics Data System (ADS)

Baker, Kevin; Lewis, James W. L.; Chen, Ying-Ling

2004-11-01

Keratoconus is an abnormal condition of the eye resulting from cone-shaped features on the cornea that degrade the quality of vision. These corneal features result from thinning and subsequent bulging due to intraocular pressure. The abnormal corneal curvature increases the refractive power asymmetrically and can be misdiagnosed by examiners as astigmatism and nearsightedness. Since corrective treatment is possible, early detection of this condition is desirable. Photo-refraction (PR) detects the retinal irradiance reflected from a single light source and is an inexpensive method used to identify refractive errors. For near- (far-) sighted eye, a crescent appears on the same (opposite) side of the light source. The capability of a PR device to detect keratoconus and to differentiate this condition from myopia was investigated. Using a commercial optical program, synthetic eye models were constructed for both near-sighted and keratoconus eyes. PR images of various eye conditions were calculated. The keratoconus cone shapes were modeled with typical published cone locations and sizes. The results indicate significant differences between the images of keratoconus and near-sighted eyes.

Postural stability of preoperative acoustic neuroma patients assessed by sway magnetometry: are they unsteady?

PubMed

Collins, Melanie M; Johnson, Ian J M; Clifford, Elaine; Birchall, John P; O'Donoghue, Gerald M

2003-04-01

The objective was to evaluate the preoperative postural stability of acoustic neuroma patients using sway magnetometry. Prospective two-center study. Fifty-one patients (mean age, 53 years) diagnosed with unilateral acoustic neuroma on magnetic resonance imaging at two tertiary referral centers were studied. Preoperatively, each patient had sway patterns (with eyes open and with eyes closed, and standing on foam) recorded for 120 seconds by sway magnetometry. Path length for 30 seconds was calculated. The Romberg coefficient (path length with eyes open divided by path length with eyes closed) was calculated. Forty-four percent of patients had abnormal path lengths with eyes open, and 49% with eyes closed. The Romberg coefficients were significantly lower than normal (P <.001; 95% CI, 0.19-0.87). Mean Romberg coefficient was 0.59 (normal value = 0.73), and all patients had a coefficient of less than 1. Half of preoperative acoustic neuroma patients are unsteady, exhibiting abnormal sway patterns based on path length measurements. The increase in sway path length demonstrable in normal subjects with eyes closed was significantly exaggerated in patients with acoustic neuroma.

Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11

DOE Office of Scientific and Technical Information (OSTI.GOV)

Stratton, R.F.; Payne, R.M.

We report on a 14-month-old girl with bifid nasal tip and tetralogy of Fallot. Several similar patients have been described with CNS or eye abnormalities. Chromosome analysis with FISH, using Oncor DiGeorge probes, confirmed a submicroscopic deletion of 22q11. Many patients with Shprintzen (velo-cardio-facial) syndrome have a similar deletion with conotruncal cardiac defects and an abnormal nasal shape, suggesting that a gene in this area, possibly affecting neural crest cells, influences facial and other midline development. 13 refs., 1 fig.

Audiovisual plasticity following early abnormal visual experience: Reduced McGurk effect in people with one eye.

PubMed

Moro, Stefania S; Steeves, Jennifer K E

2018-04-13

Previously, we have shown that people who have had one eye surgically removed early in life during visual development have enhanced sound localization [1] and lack visual dominance, commonly observed in binocular and monocular (eye-patched) viewing controls [2]. Despite these changes, people with one eye integrate auditory and visual components of multisensory events optimally [3]. The current study investigates how people with one eye perceive the McGurk effect, an audiovisual illusion where a new syllable is perceived when visual lip movements do not match the corresponding sound [4]. We compared individuals with one eye to binocular and monocular viewing controls and found that they have a significantly smaller McGurk effect compared to binocular controls. Additionally, monocular controls tended to perceive the McGurk effect less often than binocular controls suggesting a small transient modulation of the McGurk effect. These results suggest altered weighting of the auditory and visual modalities with both short and long-term monocular viewing. These results indicate the presence of permanent adaptive perceptual accommodations in people who have lost one eye early in life that may serve to mitigate the loss of binocularity during early brain development. Crown Copyright © 2018. Published by Elsevier B.V. All rights reserved.

Your Child's Vision

MedlinePlus

... 3½, kids should have eye health screenings and visual acuity tests (tests that measure sharpness of vision) ... eye rubbing extreme light sensitivity poor focusing poor visual tracking (following an object) abnormal alignment or movement ...

Genetics Home Reference: coloboma

MedlinePlus

... eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the ... individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye ...

Early Experience with Technology-Based Eye Care Services (TECS): A Novel Ophthalmologic Telemedicine Initiative.

PubMed

Maa, April Y; Wojciechowski, Barbara; Hunt, Kelly J; Dismuke, Clara; Shyu, Jason; Janjua, Rabeea; Lu, Xiaoqin; Medert, Charles M; Lynch, Mary G

2017-04-01

The aging population is at risk of common eye diseases, and routine eye examinations are recommended to prevent visual impairment. Unfortunately, patients are less likely to seek care as they age, which may be the result of significant travel and time burdens associated with going to an eye clinic in person. A new method of eye-care delivery that mitigates distance barriers and improves access was developed to improve screening for potentially blinding conditions. We present the quality data from the early experience (first 13 months) of Technology-Based Eye Care Services (TECS), a novel ophthalmologic telemedicine program. With TECS, a trained ophthalmology technician is stationed in a primary care clinic away from the main hospital. The ophthalmology technician follows a detailed protocol that collects information about the patient's eyes. The information then is interpreted remotely. Patients with possible abnormal findings are scheduled for a face-to-face examination in the eye clinic. Any patient with no known ocular disease who desires a routine eye screening examination is eligible. Technology-Based Eye Care Services was established in 5 primary care clinics in Georgia surrounding the Atlanta Veterans Affairs hospital. Four program operation metrics (patient satisfaction, eyeglass remakes, disease detection, and visit length) and 2 access-to-care metrics (appointment wait time and no-show rate) were tracked. Care was rendered to 2690 patients over the first 13 months of TECS. The program has been met with high patient satisfaction (4.95 of 5). Eyeglass remake rate was 0.59%. Abnormal findings were noted in 36.8% of patients and there was >90% agreement between the TECS reading and the face-to-face findings of the physician. TECS saved both patient (25% less) and physician time (50% less), and access to care substantially improved with 99% of patients seen within 14 days of contacting the eye clinic, with a TECS no-show rate of 5.2%. The early experience with TECS has been promising. Tele-ophthalmology has the potential to improve operational efficiency, reduce cost, and significantly improve access to care. Although further study is necessary, TECS shows potential to help prevent avoidable vision loss. Published by Elsevier Inc.

Eye growth and myopia development: Unifying theory and Matlab model.

PubMed

Hung, George K; Mahadas, Kausalendra; Mohammad, Faisal

2016-03-01

The aim of this article is to present an updated unifying theory of the mechanisms underlying eye growth and myopia development. A series of model simulation programs were developed to illustrate the mechanism of eye growth regulation and myopia development. Two fundamental processes are presumed to govern the relationship between physiological optics and eye growth: genetically pre-programmed signaling and blur feedback. Cornea/lens is considered to have only a genetically pre-programmed component, whereas eye growth is considered to have both a genetically pre-programmed and a blur feedback component. Moreover, based on the Incremental Retinal-Defocus Theory (IRDT), the rate of change of blur size provides the direction for blur-driven regulation. The various factors affecting eye growth are shown in 5 simulations: (1 - unregulated eye growth): blur feedback is rendered ineffective, as in the case of form deprivation, so there is only genetically pre-programmed eye growth, generally resulting in myopia; (2 - regulated eye growth): blur feedback regulation demonstrates the emmetropization process, with abnormally excessive or reduced eye growth leading to myopia and hyperopia, respectively; (3 - repeated near-far viewing): simulation of large-to-small change in blur size as seen in the accommodative stimulus/response function, and via IRDT as well as nearwork-induced transient myopia (NITM), leading to the development of myopia; (4 - neurochemical bulk flow and diffusion): release of dopamine from the inner plexiform layer of the retina, and the subsequent diffusion and relay of neurochemical cascade show that a decrease in dopamine results in a reduction of proteoglycan synthesis rate, which leads to myopia; (5 - Simulink model): model of genetically pre-programmed signaling and blur feedback components that allows for different input functions to simulate experimental manipulations that result in hyperopia, emmetropia, and myopia. These model simulation programs (available upon request) can provide a useful tutorial for the general scientist and serve as a quantitative tool for researchers in eye growth and myopia. Copyright © 2016 Elsevier Ltd. All rights reserved.

Fellow Eye Changes in Patients with Nonischemic Central Retinal Vein Occlusion: Assessment of Perfused Foveal Microvascular Density and Identification of Nonperfused Capillaries

PubMed Central

Pinhas, Alexander; Dubow, Michael; Shah, Nishit; Cheang, Eric; Liu, Chun L.; Razeen, Moataz; Gan, Alexander; Weitz, Rishard; Sulai, Yusufu N.; Chui, Toco Y.; Dubra, Alfredo; Rosen, Richard B.

2016-01-01

Purpose Eyes fellow to nonischemic central retinal vein occlusion (CRVO) were examined for abnormalities, which might explain their increased risk for future occlusion, using adaptive optics scanning light ophthalmoscope fluorescein angiography. Methods Adaptive optics scanning light ophthalmoscope fluorescein angiography foveal microvascular densities were calculated. Nonperfused capillaries adjacent to the foveal avascular zone were identified. Spectral domain optical coherence tomography, ultrawide field fluorescein angiographies, and microperimetry were also performed. Results Ten fellow eyes of nine nonischemic CRVO and 1 nonischemic hemi-CRVO subjects and four affected eyes of three nonischemic CRVO and one nonischemic hemi-CRVO subjects were imaged. Ninety percent of fellow eyes and 100% of affected eyes demonstrated at least 1 nonperfused capillary compared with 31% of healthy eyes. Fellow eye microvascular density (35 ± 3.6 mm−1) was significantly higher than that of affected eyes (25 ± 5.2 mm−1) and significantly lower than that of healthy eyes (42 ± 4.2 mm−1). Compared with healthy controls, spectral domain optical coherence tomography thicknesses showed no significant difference, whereas microperimetry and 2/9 ultrawide field fluorescein angiography revealed abnormalities in fellow eyes. Conclusion Fellow eye changes detectable on adaptive optics scanning light ophthalmoscope fluorescein angiography reflect subclinical pathology difficult to detect using conventional imaging technologies. These changes may help elucidate the pathogenesis of nonischemic CRVO and help identify eyes at increased risk of future occlusion. PMID:25932560

[Analysis on the role of Sirius combined topography and tomography system in screening for suspect keratoconus].

PubMed

Zhang, Y; Chen, Y G; Yang, H Y; Xia, Y J; Zhao, R

2018-01-11

Objective: To evaluate the role of Sirius combined topography and tomography system in screening for suspect keratoconus among the corneal refractive surgery candidates. Methods: Retrospective case series study. Eight hundred and sixteen consecutive ametropic patients (1 632 eyes) who underwent routine examinations before corneal refractive surgery at Peking University Third Hospital from January 2016 to September 2016 were reviewed. All the cases were analyzed with Sirius combined topography and tomography system. Fifty-nine eyes of 37 patients, aged (28.9±7.4) years, classified as suspect keratoconus by the system were enrolled in the suspect group, including 25 females (40 eyes) and 12 males (19 eyes). A random eye of the first 59 patients, aged (27.1±6.4)years, whose both eyes were classified as normal by Sirius system were enrolled in the control group, including 38 females and 21 males. The corneal anterior surface, posterior surface and minimum thickness data of the suspect group were analyzed and then compared with the control group. The classified results were further verified by Pentacam system. Independent-samples t test and Mann-Whitney U test were applied to analyze the normal distribution and non-normal distribution data respectively. Results: The medians of anterior surface and posterior surface symmetry index and Baiocchi Calossi Versaci index of anterior surface and posterior surface of the suspect group were 0.84, 0.22, 0.58 and 0.51 D, and that of the control group were 0.05, 0.04, 0.09 and 0.06 D, and the differences were of statistical significance ( Z=- 18.764, -8.351, -12.248, -10.709, P< 0.01). Mean corneal minimum thickness data of the suspect group were (504.4±30.0)μm, and that of the control group were (541.2±32.1)μm, the differences were of statistical significance ( t=- 6.408, P< 0.01). In the suspect group, the eyes related with suspect or abnormal corneal anterior indices accounted for 47.5% (28/59), the eyes related with suspect or abnormal corneal posterior indices accounted for 55.9% (33/59), and the eyes related with suspect or abnormal corneal minimum thickness accounted for 40.7% (24/59). In the suspect group, 45 eyes (76.3%) were classified as suspect or abnormal according to the overall variance index "D" by Belin-Ambrósio Display (BAD) of the Pentacam system, and the other 14 eyes exhibited at least one abnormal index related with keratoconus. Conclusions: Sirius 3D combined topography and tomography and its integral automatic classification system is capable to screen out the suspect keratoconus simply and effectively. These indices maybe arranged in descending order in terms of the sensitivity as corneal posterior surface, followed by corneal anterior surface and then corneal thinnest point thickness. (Chin J Ophthalmol, 2018, 54: 33-38) .

CONGENITAL ABNORMALITIES OF CRANIAL NERVE DEVELOPMENT: OVERVIEW, MOLECULAR MECHANISMS, AND FURTHER EVIDENCE OF HETEROGENEITY AND COMPLEXITY OF SYNDROMES WITH CONGENITAL LIMITATION OF EYE MOVEMENTS

PubMed Central

Traboulsi, Elias I

2004-01-01

ABSTRACT Purpose The clinical and molecular genetic classification of syndromes with congenital limitation of eye movements and evidence of cranial nerve dysgenesis continues to evolve. This monograph details clinical and molecular genetic data on a number of families and isolated patients with congenital fibrosis of the extraocular muscles (CFEOM) and related disorders, and presents an overview of the mechanisms of abnormal patterns of motor and sensory cranial nerve development in these rare syndromes. Methods Clinical examination of one patient with CFEOM1, one family with clinical features of CFEOM2, one family with recessive CFEOM3, one family with horizontal gaze palsy and progressive scoliosis (HGPPS), and four patients with various combinations of congenital cranial nerve abnormalities. Genotyping of families with CFEOM and HGPPS for polymorphic markers in the regions of the three known CFEOM loci and in the HGPPS region, and mutation analysis of the ARIX and KIF21A genes in patients with CFEOM were performed according to standard published protocols. Results The patient with CFEOM1 had the second most common mutation in KIF21A, a 2861 G>A mutation that resulted in an R954Q substitution. The family with CFEOM2 phenotype did not map to the CFEOM2 locus. The family with recessive CFEOM3 did not map to any of the known loci. The HGPPS family mapped to 11q23–q25. One patient had optic nerve hypoplasia and fifth nerve dysfunction. Two patients had the rare combination of Möbius syndrome and CFEOM. One patient had Möbius syndrome and fifth nerve dysfunction. Conclusions There is genetic heterogeneity in CFEOM2 and CFEOM3. Abnormalities in sensory nerves can also accompany abnormalities of motor nerves, further substantiating the effect of individual mutations on developing motor as well as sensory cranial nerve nuclei. PMID:15747768

Cuticular Drusen: Clinical Phenotypes and Natural History Defined Using Multimodal Imaging.

PubMed

Balaratnasingam, Chandrakumar; Cherepanoff, Svetlana; Dolz-Marco, Rosa; Killingsworth, Murray; Chen, Fred K; Mendis, Randev; Mrejen, Sarah; Too, Lay Khoon; Gal-Or, Orly; Curcio, Christine A; Freund, K Bailey; Yannuzzi, Lawrence A

2018-01-01

To define the range and life cycles of cuticular drusen phenotypes using multimodal imaging and to review the histologic characteristics of cuticular drusen. Retrospective, observational cohort study and experimental laboratory study. Two hundred forty eyes of 120 clinic patients with a cuticular drusen phenotype and 4 human donor eyes with cuticular drusen (n = 2), soft drusen (n = 1), and hard drusen (n = 1). We performed a retrospective review of clinical and multimodal imaging data of patients with a cuticular drusen phenotype. Patients had undergone imaging with various combinations of color photography, fluorescein angiography, indocyanine green angiography, near-infrared reflectance, fundus autofluorescence, high-resolution OCT, and ultrawide-field imaging. Human donor eyes underwent processing for high-resolution light and electron microscopy. Appearance of cuticular drusen in multimodal imaging and the topography of a cuticular drusen distribution; age-dependent variations in cuticular drusen phenotypes, including the occurrence of retinal pigment epithelium (RPE) abnormalities, choroidal neovascularization, acquired vitelliform lesions (AVLs), and geographic atrophy (GA); and ultrastructural and staining characteristics of druse subtypes. The mean age of patients at the first visit was 57.9±13.4 years. Drusen and RPE changes were seen in the peripheral retina, anterior to the vortex veins, in 21.8% of eyes. Of eyes with more than 5 years of follow-up, cuticular drusen disappeared from view in 58.3% of eyes, drusen coalescence was seen in 70.8% of eyes, and new RPE pigmentary changes developed in 56.2% of eyes. Retinal pigment epithelium abnormalities, AVLs, neovascularization, and GA occurred at a frequency of 47.5%, 24.2%, 12.5%, and 25%, respectively, and were significantly more common in patients older than 60 years of age (all P < 0.015). Occurrence of GA and neovascularization were important determinants of final visual acuity in eyes with the cuticular drusen phenotype (both P < 0.015). Small cuticular drusen typically demonstrated a homogenous ultrastructural appearance similar to hard drusen, whereas fragmentation of the central and basal contents was seen frequently in larger cuticular drusen. Although the ultrastructural characteristics of cuticular drusen appear more similar to those of hard drusen, their lifecycle and macular complications are more comparable with those of soft drusen. Cuticular drusen phenotype may confer a unique risk for the development of GA and neovascularization. Copyright © 2017 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Genetics Home Reference: ophthalmo-acromelic syndrome

MedlinePlus

... The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small ( microphthalmia ). Usually ... limbs, and eyes. These changes likely underlie the anophthalmia and skeletal malformations of ophthalmo-acromelic syndrome . It ...

VASCULAR ABNORMALITIES IN DIABETIC RETINOPATHY ASSESSED WITH SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY WIDEFIELD IMAGING.

PubMed

Schaal, Karen B; Munk, Marion R; Wyssmueller, Iris; Berger, Lieselotte E; Zinkernagel, Martin S; Wolf, Sebastian

2017-11-10

To detect vascular abnormalities in diabetic retinopathy using swept-source optical coherence tomography angiography (SS-OCTA) widefield images, and to compare the findings with color fundus photographs (CFPs) using Early Treatment Diabetic Retinopathy Study severity grading. 3 mm × 3 mm and 12 mm × 12 mm scans were acquired to cover 70° to 80° of the posterior pole using a 100-kHz SS-OCTA instrument. Two masked graders assessed the presence of vascular abnormalities on SS-OCTA and the Early Treatment Diabetic Retinopathy Study level on CFP. The grading results were then compared. A total of 120 diabetic eyes (60 patients) were imaged with the SS-OCTA instrument. Cohort 1 (91 eyes; SS-OCTA grading only) showed microaneurysms in 91% (n = 83), intraretinal microvascular abnormalities in 79% (n = 72), and neovascularization in 21% (n = 19) of cases. Cohort 2 (52 eyes; CFP grading compared with SS-OCTA) showed microaneurysms on CFP in 90% (n = 47) and on SS-OCTA in 96% (n = 50) of cases. Agreement in intraretinal microvascular abnormality detection was fair (k = 0.2). Swept-source optical coherence tomography angiography detected 50% of intraretinal microvascular abnormality cases (n = 26), which were missed on CFP. Agreement in detecting neovascularization was moderate (k = 0.5). Agreement in detection of diabetic retinopathy features on CFP and SS-OCTA varies depending on the vascular changes examined. Swept-source optical coherence tomography angiography shows a higher detection rate of intraretinal microvascular abnormalities (P = 0.039), compared with Early Treatment Diabetic Retinopathy Study grading.

Children with autism spectrum disorders show abnormal conditioned response timing on delay, but not trace, eyeblink conditioning

PubMed Central

Oristaglio, Jeff; West, Susan Hyman; Ghaffari, Manely; Lech, Melissa S.; Verma, Beeta R.; Harvey, John A.; Welsh, John P.; Malone, Richard P.

2013-01-01

Children with autism spectrum disorder (ASD) and age-matched typically-developing (TD) peers were tested on two forms of eyeblink conditioning (EBC), a Pavlovian associative learning paradigm where subjects learn to execute an appropriately-timed eyeblink in response to a previously neutral conditioning stimulus (CS). One version of the task, trace EBC, interposes a stimulus-free interval between the presentation of the CS and the unconditioned stimulus (US), a puff of air to the eye which causes subjects to blink. In delay EBC, the CS overlaps in time with the delivery of the US, usually with both stimuli terminating simultaneously. ASD children performed normally during trace EBC, exhibiting no differences from typically-developing (TD) subjects with regard to learning rate or the timing of the CR. However, when subsequently tested on delay EBC, subjects with ASD displayed abnormally-timed conditioned eye blinks that began earlier and peaked sooner than those of TD subjects, consistent with previous findings. The results suggest an impaired ability of children with ASD to properly time conditioned eye blinks which appears to be specific to delay EBC. We suggest that this deficit may reflect a dysfunction of cerebellar cortex in which increases in the intensity or duration of sensory input can temporarily disrupt the accuracy of motor timing over short temporal intervals. PMID:23769889

Spontaneous Eye-Blinking and Stereotyped Behavior in Older Persons with Mental Retardation

ERIC Educational Resources Information Center

Roebel, Amanda M.; MacLean, William E., Jr.

2007-01-01

Previous research indicates that abnormal stereotyped movements are associated with central dopamine dysfunction and that eye-blink rate is a noninvasive, in vivo measure of dopamine function. We measured the spontaneous eye-blinking and stereotyped behavior of older adults with severe/profound mental retardation living in a state mental…

Improvements in Signs and Symptoms of Dry Eye after Instillation of 2% Rebamipide.

PubMed

Igarashi, Tsutomu; Fujita, Miho; Yamada, Yumi; Kobayashi, Maika; Fujimoto, Chiaki; Takahashi, Hisatomo; Igarashi, Toru; Nakano, Yuichiro; Suzuki, Hisaharu; Takahashi, Hiroshi

2015-01-01

Because dry eye greatly reduces quality of life, this study aimed to examine rebamipide instillation in patients with dry eye and assess the improvement of signs and symptoms as evaluated with the Ocular Surface Disease Index, which is the most popular index and is highly reliable. From June 2013 through January 2014, we examined 50 eyes of 25 patients with dry eye (6 men and 19 woman) at our institution. Dry eye was diagnosed on the basis of the presence of symptoms, tear dynamics, and ocular surface abnormalities according to the Japanese criteria for dry eye. Before being enrolled, all patients underwent ocular surface health assessment, including history interviews, and completed the Ocular Surface Disease Index questionnaire. Patients received 2% rebamipide ophthalmic solution 4 times daily for 4 weeks. Signs and symptoms were analyzed before and 4 weeks after rebamipide administration. Tear dynamics, tear break-up time, and ocular surface abnormalities were measured and compared between before and 4 weeks after rebamipide administration. Of the 25 patients, 9 had definite dry eye and 16 had probable dry eye. Tear break-up time and the fluorescein staining score significantly improved after 4 weeks. However, no significant change was observed for the Schirmer test I and the lissamine green staining score. The administration of 2% rebamipide 4 times daily for 4 weeks improves the signs and symptoms of dry eye and improves patients' quality of life.

PHACE syndrome misdiagnosed as a port-wine stain

PubMed Central

Thomson, Jason; Greig, Aina; Lloyd, Claire; Morrison, Danny; Flohr, Carsten

2015-01-01

We present the case of a boy born with a large macular, segmental vascular anomaly over the left face, initially diagnosed as a capillary malformation (port-wine stain) by the postnatal paediatric team. The vascular anomaly in the face then grew rapidly during the first few weeks of life and started to occlude the left eye, causing parental concerns about the infant's vision. A dermatological opinion established that the lesion was a segmental infantile haemangioma (IH). This, in combination with the posterior fossa malformation previously detected on antenatal scanning and confirmed by an MRI postnatally, satisfied the criteria for Posterior fossa abnormalities, Haemangiomas, Arterial abnormalities, Cardiac abnormalities and Eye abnormalities (PHACE) syndrome: a rare cutaneous neurovascular syndrome. This case highlights the diagnostic challenge posed by early phenotypes of haemangiomas as well as the importance of correctly diagnosing PHACE syndrome. PMID:26177999

The impact of facial abnormalities and their spatial position on perception of cuteness and attractiveness of infant faces

PubMed Central

Lewis, Jennifer; Roberson, Debi

2017-01-01

Research has demonstrated that how “cute” an infant is perceived to be has consequences for caregiving. Infants with facial abnormalities receive lower ratings of cuteness, but relatively little is known about how different abnormalities and their location affect these aesthetic judgements. The objective of the current study was to compare the impact of different abnormalities on the perception of infant faces, while controlling for infant identity. In two experiments, adult participants gave ratings of cuteness and attractiveness in response to face images that had been edited to introduce common facial abnormalities. Stimulus faces displayed either a haemangioma (a small, benign birth mark), strabismus (an abnormal alignment of the eyes) or a cleft lip (an abnormal opening in the upper lip). In Experiment 1, haemangioma had less of a detrimental effect on ratings than the more severe abnormalities. In Experiment 2, we manipulated the position of a haemangioma on the face. We found small but robust effects of this position, with abnormalities in the top and on the left of the face receiving lower cuteness ratings. This is consistent with previous research showing that people attend more to the top of the face (particularly the eyes) and to the left hemifield. PMID:28749958

Iris alterations after DSAEK.

PubMed

Del Hierro Zarzuelo, A; Boto de Los Bueis, A

2016-09-01

To evaluate a series of case that developed iris changes after performing Descemet's stripping automated endothelial keratoplasty (DSAEK). Retrospective study of eyes that developed iris abnormalities, such as pupil ovalisation, iris atrophy, iridocorneal synechiae, mydriatic pupil, and pigmentary changes after performing DSAEK in a tertiary hospital. In a series of the first 32 DSAEK procedures performed, new single or mixed iris alterations were observed in 12 eyes (37.5%). Iris-corneal synechiae were observed in 7 eyes, corectopias in 9 eyes, iris atrophy in 3 cases, and one case developed an areflexic mydriatic pupil. Long-term pigment dispersion at the edge of the lenticule was observed in 12 eyes. The alterations occurred after three months from the surgery. In the evaluation of the associated factors, malignant glaucoma had occurred in 1 case, 2 eyes had required a second surgery, one case by re-DSAEK, and the other one by removing the intraocular lens due to lens opacification. Two cases had a shallow anterior chamber. No relationship was found between the thickness of the peripheral lenticule and the presence of synechiae. Iris changes regarding DSAEK are possible. A discussion is presented on the relationship between increased intraocular pressure due to air in anterior chamber and its relationship with ischaemia and secondary alterations in the iris. Copyright © 2016 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

Eye Movement Abnormalities in Joubert Syndrome

PubMed Central

Weiss, Avery H.; Doherty, Dan; Parisi, Melissa; Shaw, Dennis; Glass, Ian; Phillips, James O.

2011-01-01

Purpose Joubert syndrome is a genetic disorder characterized by hypoplasia of the midline cerebellum and deficiency of crossed connections between neural structures in the brain stem that control eye movements. The goal of the study was to quantify the eye movement abnormalities that occur in Joubert syndrome. Methods Eye movements were recorded in response to stationary stimuli and stimuli designed to elicit smooth pursuit, saccades, optokinetic nystagmus (OKN), vestibulo-ocular reflex (VOR), and vergence using video-oculography or Skalar search coils in 8 patients with Joubert syndrome. All patients underwent high-resolution magnetic resonance imaging (MRI). Results All patients had the highly characteristic molar tooth sign on brain MRI. Six patients had conjugate pendular (n = 4) or see-saw nystagmus (n = 2); gaze holding was stable in four patients. Smooth-pursuit gains were 0.28 to 1.19, 0.11 to 0.68, and 0.33 to 0.73 at peak stimulus velocities of 10, 20, and 30 deg/s in six patients; smooth pursuit could not be elicited in four patients. Saccade gains in five patients ranged from 0.35 to 0.91 and velocities ranged from 60.9 to 259.5 deg/s. Targeted saccades could not be elicited in five patients. Horizontal OKN gain was uniformly reduced across gratings drifted at velocities of 15, 30, and 45 deg/s. VOR gain was 0.8 or higher and phase appropriate in three of seven subjects; VOR gain was 0.3 or less and phase was indeterminate in four subjects. Conclusions The abnormalities in gaze-holding and eye movements are consistent with the distributed abnormalities of midline cerebellum and brain stem regions associated with Joubert syndrome. PMID:19443711

Scanning laser polarimetry, but not optical coherence tomography predicts permanent visual field loss in acute nonarteritic anterior ischemic optic neuropathy.

PubMed

Kupersmith, Mark J; Anderson, Susan; Durbin, Mary; Kardon, Randy

2013-08-15

Scanning laser polarimetry (SLP) reveals abnormal retardance of birefringence in locations of the edematous peripapillary retinal nerve fiber layer (RNFL), which appear thickened by optical coherence tomography (OCT), in nonarteritic anterior ischemic optic neuropathy (NAION). We hypothesize initial sector SLP RNFL abnormalities will correlate with long-term regional visual field loss due to ischemic injury. We prospectively performed automated perimetry, SLP, and high definition OCT (HD-OCT) of the RNFL in 25 eyes with acute NAION. We grouped visual field threshold and RNFL values into Garway-Heath inferior/superior disc sectors and corresponding superior/inferior field regions. We compared sector SLP RNFL thickness with corresponding visual field values at presentation and at >3 months. At presentation, 12 eyes had superior sector SLP reduction, 11 of which had inferior field loss. Six eyes, all with superior field loss, had inferior sector SLP reduction. No eyes had reduced OCT-derived RNFL acutely. Eyes with abnormal field regions had corresponding SLP sectors thinner (P = 0.003) than for sectors with normal field regions. During the acute phase, the SLP-derived sector correlated with presentation (r = 0.59, P = 0.02) and with >3-month after presentation (r = 0.44, P = 0.02) corresponding superior and inferior field thresholds. Abnormal RNFL birefringence occurs in sectors corresponding to regional visual field loss during acute NAION when OCT-derived RNFL shows thickening. Since the visual field deficits show no significant recovery, SLP can be an early marker for axonal injury, which may be used to assess recovery potential at RNFL locations with respect to new treatments for acute NAION.

Confocal Adaptive Optics Imaging of Peripapillary Nerve Fiber Bundles: Implications for Glaucomatous Damage Seen on Circumpapillary OCT Scans.

PubMed

Hood, Donald C; Chen, Monica F; Lee, Dongwon; Epstein, Benjamin; Alhadeff, Paula; Rosen, Richard B; Ritch, Robert; Dubra, Alfredo; Chui, Toco Y P

2015-04-01

To improve our understanding of glaucomatous damage as seen on circumpapillary disc scans obtained with frequency-domain optical coherence tomography (fdOCT), fdOCT scans were compared to images of the peripapillary retinal nerve fiber (RNF) bundles obtained with an adaptive optics-scanning light ophthalmoscope (AO-SLO). The AO-SLO images and fdOCT scans were obtained on 6 eyes of 6 patients with deep arcuate defects (5 points ≤-15 db) on 10-2 visual fields. The AO-SLO images were montaged and aligned with the fdOCT images to compare the RNF bundles seen with AO-SLO to the RNF layer thickness measured with fdOCT. All 6 eyes had an abnormally thin (1% confidence limit) RNF layer (RNFL) on fdOCT and abnormal (hyporeflective) regions of RNF bundles on AO-SLO in corresponding regions. However, regions of abnormal, but equal, RNFL thickness on fdOCT scans varied in appearance on AO-SLO images. These regions could be largely devoid of RNF bundles (5 eyes), have abnormal-appearing bundles of lower contrast (6 eyes), or have isolated areas with a few relatively normal-appearing bundles (2 eyes). There also were local variations in reflectivity of the fdOCT RNFL that corresponded to the variations in AO-SLO RNF bundle appearance. Relatively similar 10-2 defects with similar fdOCT RNFL thickness profiles can have very different degrees of RNF bundle damage as seen on fdOCT and AO-SLO. While the results point to limitations of fdOCT RNFL thickness as typically analyzed, they also illustrate the potential for improving fdOCT by attending to variations in local intensity.

High-resolution Fourier-Domain Optical Coherence Tomography and Microperimetric Findings After Macula-off Retinal Detachment Repair

PubMed Central

Smith, Allison J.; Telander, David G.; Zawadzki, Robert J.; Choi, Stacey S.; Morse, Lawrence S.; Werner, John S.; Park, Susanna S.

2009-01-01

Objective To evaluate the morphologic changes in the macula of subjects with repaired macula-off retinal detachment (RD) using high-resolution Fourier-domain optical coherence tomography (FD OCT) and to perform functional correlation in a subset of patients using microperimetry (MP-1). Design Prospective observational case series. Participants Seventeen eyes from 17 subjects who had undergone anatomically successful repair for macula-off, rhegmatogenous RD at least 3 months earlier and without visually significant maculopathy on funduscopy. Methods FD OCT with axial and transverse resolution of 4.5 μm and 10 to 15 μm, respectively, was used to obtain rapid serial B-scans of the macula, which were compared with that from Stratus OCT. The FD OCT B-scans were used to create a 3-dimensional volume, from which en face C-scans were created. Among 11 patients, MP-1 was performed to correlate morphologic changes with visual function. Main Outcome Measures Stratus OCT scans, FD OCT scans, and MP-1 data. Results Stratus OCT and FD OCT images of the macula were obtained 3 to 30 months (mean 7 months) postoperatively in all eyes. Although Stratus OCT revealed photoreceptor disruption in 2 eyes (12%), FD OCT showed photoreceptor disruption in 13 eyes (76%). This difference was statistically significant (P<0.001, χ2). Both imaging modalities revealed persistent subretinal fluid in 2 eyes (12%) and lamellar hole in 1 eye. Among 7 subjects who had reliable MP-1 data, areas of abnormal function corresponded to areas of photoreceptor layer disruptions or persistent subretinal fluid in 5 subjects (71%); one subject had normal FD OCT and MP-1. Conclusions Photoreceptor disruption after macula-off RD repair is a common abnormality in the macula that is detected better with FD OCT than Stratus OCT. A good correlation between MP-1 abnormality and presence of photoreceptor disruption or subretinal fluid on FD OCT demonstrates that these anatomic abnormalities contribute to decreased visual function after successful repair. PMID:18672289

A High Prevalence of Exotropia in Patients With Duane Retraction Syndrome in a Tertiary Eye Care Center in South India.

PubMed

Bhate, Manjushree; Sachdeva, Virender; Kekunnaya, Ramesh

2017-03-01

To determine the prevalence and clinical characteristics of patients with Duane retraction syndrome presenting with exotropia in a tertiary eye care center. Medical records of 140 patients with Duane retraction syndrome and exotropia (of the total 441 patients with Duane retraction syndrome) seen from 2000 to 2009 were reviewed. Characteristics studied included age at presentation, gender, laterality, manifest primary position, abnormal head posture, ocular motility, and overshoots. Data were collected regarding associated ocular or systemic abnormalities and amblyopia. The mean age of the patients at presentation was 16.96 ± 15.09 years (range: 1 to 70 years). Of the 140 patients with Duane retraction syndrome and exotropia, 59 (42%) were male. Unilateral type I Duane retraction syndrome accounted for 118 (84.2%), type II for 7 (5%), and type III for 10 (7.1%) patients, whereas 5 (3.6%) had Duane retraction syndrome and bilateral exotropia. Duane retraction syndrome was seen in the left eye, right eye, and both eyes in 97 (69%), 37 (26%), and 6 (4%) patients, respectively. Exotropia ranged from 10 to 60 prism diopters. An abnormal head posture was noted in 101 (72%) and upshoot in 26 (18.6%) patients. Reported ocular and systemic abnormalities in these patients included cataract (6), aniridia (1), nasolacrimal duct block (1), and retinal breaks (1). This is an exclusive study on a large series of patients with Duane retraction syndrome and exotropia. Almost one-third of patients with Duane retraction syndrome patients might have exotropia. Although patients with Duane retraction syndrome and exotropia had clinical characteristics and associations similar to those with Duane retraction syndrome and esotropia, there was an increased propensity for overshoots and face turn opposite to the affected eye, which the authors hypothesize to be due to a tight or short lateral rectus muscle. [J Pediatr Ophthalmol Strabismus. 2017;54(2):117-122.]. Copyright 2017, SLACK Incorporated.

Autofluorescence and spectral domain OCT findings in Alport syndrome.

PubMed

Randhawa, Sandeep; Fu, Arthur D; Lujan, Brandon J; McDonald, H Richard; Jumper, J Michael

2013-01-01

The purpose of this study was to report novel autofluorescence and spectral domain optic coherence tomography findings in a case of Alport syndrome. Case report and literature review. A 30-year-old woman with a history of Alport syndrome presented with a full-thickness macular hole in her right eye and evidence of vitreofoveal traction in her asymptomatic left eye. Both eyes had temporal macular thinning. She had anterior lenticonus and perimacular flecks characteristic of Alport syndrome. In addition, fundus autofluorescence revealed an interesting pattern of splotchy hypoautofluorescence in the periphery (in the absence of any peripheral retinopathy on examination), which has not been described previously. Macular hole in Alport syndrome results from basement membrane weakness and an abnormal vitreoretinal interface. Although this makes surgery in these cases challenging, careful separation of the posterior hyaloid and internal limiting membrane peeling with fluid gas exchange can lead to successful closure. Alport syndrome can also cause abnormalities in the retinal pigment epithelium/Bruch membrane leading to abnormal autofluorescence.

Dual Purkinje-Image Eyetracker

DTIC Science & Technology

1996-01-01

Abnormal nystagmus can also be detected through the use of an eyetracker [4]. Through tracking points of eye gaze within a scene, it is possible to...moving, even when gazing . Correcting for these unpredictable micro eye movements would allow corrective procedures in eye surgery to become more accurate...victim with a screen of letters on a monitor. A calibrated eyetracker then provides a processor with information about the location of eye gaze . The

Zika Virus Infection in Mice Causes Panuveitis with Shedding of Virus in Tears.

PubMed

Miner, Jonathan J; Sene, Abdoulaye; Richner, Justin M; Smith, Amber M; Santeford, Andrea; Ban, Norimitsu; Weger-Lucarelli, James; Manzella, Francesca; Rückert, Claudia; Govero, Jennifer; Noguchi, Kevin K; Ebel, Gregory D; Diamond, Michael S; Apte, Rajendra S

2016-09-20

Zika virus (ZIKV) is an emerging flavivirus that causes congenital abnormalities and Guillain-Barré syndrome. ZIKV infection also results in severe eye disease characterized by optic neuritis, chorioretinal atrophy, and blindness in newborns and conjunctivitis and uveitis in adults. We evaluated ZIKV infection of the eye by using recently developed mouse models of pathogenesis. ZIKV-inoculated mice developed conjunctivitis, panuveitis, and infection of the cornea, iris, optic nerve, and ganglion and bipolar cells in the retina. This phenotype was independent of the entry receptors Axl or Mertk, given that Axl(-/-), Mertk(-/-), and Axl(-/-)Mertk(-/-) double knockout mice sustained levels of infection similar to those of control animals. We also detected abundant viral RNA in tears, suggesting that virus might be secreted from lacrimal glands or shed from the cornea. This model provides a foundation for studying ZIKV-induced ocular disease, defining mechanisms of viral persistence, and developing therapeutic approaches for viral infections of the eye. Copyright © 2016 The Author(s). Published by Elsevier Inc. All rights reserved.

Glaucomatous patterns in Frequency Doubling Technology (FDT) perimetry data identified by unsupervised machine learning classifiers.

PubMed

Bowd, Christopher; Weinreb, Robert N; Balasubramanian, Madhusudhanan; Lee, Intae; Jang, Giljin; Yousefi, Siamak; Zangwill, Linda M; Medeiros, Felipe A; Girkin, Christopher A; Liebmann, Jeffrey M; Goldbaum, Michael H

2014-01-01

The variational Bayesian independent component analysis-mixture model (VIM), an unsupervised machine-learning classifier, was used to automatically separate Matrix Frequency Doubling Technology (FDT) perimetry data into clusters of healthy and glaucomatous eyes, and to identify axes representing statistically independent patterns of defect in the glaucoma clusters. FDT measurements were obtained from 1,190 eyes with normal FDT results and 786 eyes with abnormal FDT results from the UCSD-based Diagnostic Innovations in Glaucoma Study (DIGS) and African Descent and Glaucoma Evaluation Study (ADAGES). For all eyes, VIM input was 52 threshold test points from the 24-2 test pattern, plus age. FDT mean deviation was -1.00 dB (S.D. = 2.80 dB) and -5.57 dB (S.D. = 5.09 dB) in FDT-normal eyes and FDT-abnormal eyes, respectively (p<0.001). VIM identified meaningful clusters of FDT data and positioned a set of statistically independent axes through the mean of each cluster. The optimal VIM model separated the FDT fields into 3 clusters. Cluster N contained primarily normal fields (1109/1190, specificity 93.1%) and clusters G1 and G2 combined, contained primarily abnormal fields (651/786, sensitivity 82.8%). For clusters G1 and G2 the optimal number of axes were 2 and 5, respectively. Patterns automatically generated along axes within the glaucoma clusters were similar to those known to be indicative of glaucoma. Fields located farther from the normal mean on each glaucoma axis showed increasing field defect severity. VIM successfully separated FDT fields from healthy and glaucoma eyes without a priori information about class membership, and identified familiar glaucomatous patterns of loss.

Classification of diabetic retinopathy using fractal dimension analysis of eye fundus image

NASA Astrophysics Data System (ADS)

Safitri, Diah Wahyu; Juniati, Dwi

2017-08-01

Diabetes Mellitus (DM) is a metabolic disorder when pancreas produce inadequate insulin or a condition when body resist insulin action, so the blood glucose level is high. One of the most common complications of diabetes mellitus is diabetic retinopathy which can lead to a vision problem. Diabetic retinopathy can be recognized by an abnormality in eye fundus. Those abnormalities are characterized by microaneurysms, hemorrhage, hard exudate, cotton wool spots, and venous's changes. The diabetic retinopathy is classified depends on the conditions of abnormality in eye fundus, that is grade 1 if there is a microaneurysm only in the eye fundus; grade 2, if there are a microaneurysm and a hemorrhage in eye fundus; and grade 3: if there are microaneurysm, hemorrhage, and neovascularization in the eye fundus. This study proposed a method and a process of eye fundus image to classify of diabetic retinopathy using fractal analysis and K-Nearest Neighbor (KNN). The first phase was image segmentation process using green channel, CLAHE, morphological opening, matched filter, masking, and morphological opening binary image. After segmentation process, its fractal dimension was calculated using box-counting method and the values of fractal dimension were analyzed to make a classification of diabetic retinopathy. Tests carried out by used k-fold cross validation method with k=5. In each test used 10 different grade K of KNN. The accuracy of the result of this method is 89,17% with K=3 or K=4, it was the best results than others K value. Based on this results, it can be concluded that the classification of diabetic retinopathy using fractal analysis and KNN had a good performance.

Genetics Home Reference: horizontal gaze palsy with progressive scoliosis

MedlinePlus

... to track moving objects. Up-and-down (vertical) eye movements are typically normal. In people with HGPPS , an ... the brainstem is the underlying cause of the eye movement abnormalities associated with the disorder. The cause of ...

Oculomotor abnormalities in children with Niemann-Pick type C.

PubMed

Blundell, James; Frisson, Steven; Chakrapani, Anupam; Gissen, Paul; Hendriksz, Chris; Vijay, Suresh; Olson, Andrew

2018-02-01

Niemann-Pick type C (NP-C) is a rare recessive disorder associated with progressive supranuclear gaze palsy. Degeneration occurs initially for vertical saccades and later for horizontal saccades. There are studies of oculomotor degeneration in adult NP-C patients [1, 2] but no comparable studies in children. We used high-resolution video-based eye tracking to record monocular vertical and horizontal eye movements in 2 neurological NP-C patients (children with clinically observable oculomotor abnormalities) and 3 pre-neurological NP-C patients (children without clinically observable oculomotor abnormalities). Saccade onset latency, saccade peak velocity and saccade curvature were compared to healthy controls (N=77). NP-C patients had selective impairments of vertical saccade peak velocity and vertical saccade curvature, with slower peak velocities and greater curvature. Changes were more pronounced in neurological than pre-neurological patients, showing that these measures are sensitive to disease progress, but abnormal curvature and slowed downward saccades were present in both groups, showing that eye-tracking can register disease-related changes before these are evident in a clinical exam. Both slowing, curvature and the detailed characteristics of the curvature we observed are predicted by the detailed characteristics of RIMLF population codes. Onset latencies were not different from healthy controls. High-resolution video-based eye tracking is a promising sensitive and objective method to measure NP-C disease severity and neurological onset. It may also help evaluate responses to therapeutic interventions. Copyright © 2017. Published by Elsevier Inc.

Amblyopia Associated with Congenital Facial Nerve Paralysis.

PubMed

Iwamura, Hitoshi; Kondo, Kenji; Sawamura, Hiromasa; Baba, Shintaro; Yasuhara, Kazuo; Yamasoba, Tatsuya

2016-01-01

The association between congenital facial paralysis and visual development has not been thoroughly studied. Of 27 pediatric cases of congenital facial paralysis, we identified 3 patients who developed amblyopia, a visual acuity decrease caused by abnormal visual development, as comorbidity. These 3 patients had facial paralysis in the periocular region and developed amblyopia on the paralyzed side. They started treatment by wearing an eye patch immediately after diagnosis and before the critical visual developmental period; all patients responded to the treatment. Our findings suggest that the incidence of amblyopia in the cases of congenital facial paralysis, particularly the paralysis in the periocular region, is higher than that in the general pediatric population. Interestingly, 2 of the 3 patients developed anisometropic amblyopia due to the hyperopia of the affected eye, implying that the periocular facial paralysis may have affected the refraction of the eye through yet unspecified mechanisms. Therefore, the physicians who manage facial paralysis should keep this pathology in mind, and when they see pediatric patients with congenital facial paralysis involving the periocular region, they should consult an ophthalmologist as soon as possible. © 2016 S. Karger AG, Basel.

Retinal nerve fibre thickness measured with optical coherence tomography accurately detects confirmed glaucomatous damage.

PubMed

Hood, D C; Harizman, N; Kanadani, F N; Grippo, T M; Baharestani, S; Greenstein, V C; Liebmann, J M; Ritch, R

2007-07-01

To assess the accuracy of optical coherence tomography (OCT) in detecting damage to a hemifield, patients with hemifield defects confirmed on both static automated perimetry (SAP) and multifocal visual evoked potentials (mfVEP) were studied. Eyes of 40 patients with concomitant SAP and mfVEP glaucomatous loss and 25 controls underwent OCT retinal nerve fibre layer (RNFL), mfVEP and 24-2 SAP tests. For the mfVEP and 24-2 SAP, a hemifield was defined as abnormal based upon cluster criteria. On OCT, a hemifield was considered abnormal if one of the five clock hour sectors (3 and 9 o'clock excluded) was at <1% (red) or two were at <5% (yellow). Seventy seven (43%) of the hemifields were abnormal on both mfVEP and SAP tests. The OCT was abnormal for 73 (95%) of these. Only 1 (1%) of the 100 hemifields of the controls was abnormal on OCT. Sensitivity/specificity (one eye per person) was 95/98%. The OCT RNFL test accurately detects abnormal hemifields confirmed on both subjective and objective functional tests. Identifying abnormal hemifields with a criterion of 1 red (1%) or 2 yellow (5%) clock hours may prove useful in clinical practice.

[Ocular coloboma and results of brain MRI: preliminary results].

PubMed

Denis, D; Girard, N; Levy-Mozziconacci, A; Berbis, J; Matonti, F

2013-03-01

Congenital ocular colobomas are the result of a failure in closure of the embryonal fissure. We present a prospective study (2007-2011) in which we report brain MRI findings in children with ocular coloboma. Thirty-five children (54 eyes) were included; 15 boys, 20 girls with a median age of 24.0 months (1.0-96.0) at first presentation. Within 2 to 3 months following complete ophthalmologic examination, brain MRI was performed. Colobomas were bilateral in 19 cases and unilateral in 16 cases. Eleven different types of coloboma were identified. Of 54 eyes, 74% demonstrated optic nerve coloboma, of which 28 were severe. Of 35 MRI's performed, abnormalities were present in 86%: gyration abnormalities (n=21), lateral ventricular dilatation (n=17), dilatation of the Virchow-Robin and subarachnoid spaces (n=14), signal abnormalities and brain stem malformations (n=14), white matter signal abnormalities (n=11), corpus callosum abnormalities (n=10). Most of these abnormalities were related. Gyration abnormalities were the most frequent. There was no significant association between the severity of the coloboma and the abnormalities found (P=1.0). Likewise, there was no significant association of gyration abnormalities with the severity of coloboma in children (P=1.0). This study shows, for the first time, the existence of frequent cerebral abnormalities on MRI in children with ocular coloboma. The most common abnormality being gyration abnormalities, in 60% of cases. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

[Ankyloblepharon filiforme adnatum].

PubMed

Haustein, M; Reschke, F; Terai, N; Lesczcynska, A; Wozniak, K; Pillunat, L E; Sommer, F

2014-02-01

The ankyloblepharon filiforme adnatum is a congenital eyelid anomaly in which the development of the eyelids is completed but the eyelids are not completely separated at birth. The abnormality can occur as an isolated anomaly, together with other eye diseases or in the context of systemic syndromes. In this case report the current classification and essential diagnostics of AFA will be reviewed.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Walton, B.T.

A chemical impurity isolated from commercially purchased acridine causes cricket embryos to develop extra compound eyes, branched antennae, extra antennae, and extra heads. Purified acridine does not produce similar duplications of cricket heads or head structures nor do the substituted acridines proflavine, acriflavine, or acridine orange. A dose-response relation exists such that the number and severity of abnormalities increase with increasing concentration of the teratogen.

Don't it make my blue eyes brown: heterochromia and other abnormalities of the iris

PubMed Central

Rennie, I G

2012-01-01

Eye colour is one of the most important characteristics in determining facial appearance. In this paper I shall discuss the anatomy and genetics of normal eye colour, together with a wide and diverse range of conditions that may produce an alteration in normal iris pigmentation or form. PMID:21979861

TOWARD QUANTITATIVE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY: Visualizing Blood Flow Speeds in Ocular Pathology Using Variable Interscan Time Analysis.

PubMed

Ploner, Stefan B; Moult, Eric M; Choi, WooJhon; Waheed, Nadia K; Lee, ByungKun; Novais, Eduardo A; Cole, Emily D; Potsaid, Benjamin; Husvogt, Lennart; Schottenhamml, Julia; Maier, Andreas; Rosenfeld, Philip J; Duker, Jay S; Hornegger, Joachim; Fujimoto, James G

2016-12-01

Currently available optical coherence tomography angiography systems provide information about blood flux but only limited information about blood flow speed. The authors develop a method for mapping the previously proposed variable interscan time analysis (VISTA) algorithm into a color display that encodes relative blood flow speed. Optical coherence tomography angiography was performed with a 1,050 nm, 400 kHz A-scan rate, swept source optical coherence tomography system using a 5 repeated B-scan protocol. Variable interscan time analysis was used to compute the optical coherence tomography angiography signal from B-scan pairs having 1.5 millisecond and 3.0 milliseconds interscan times. The resulting VISTA data were then mapped to a color space for display. The authors evaluated the VISTA visualization algorithm in normal eyes (n = 2), nonproliferative diabetic retinopathy eyes (n = 6), proliferative diabetic retinopathy eyes (n = 3), geographic atrophy eyes (n = 4), and exudative age-related macular degeneration eyes (n = 2). All eyes showed blood flow speed variations, and all eyes with pathology showed abnormal blood flow speeds compared with controls. The authors developed a novel method for mapping VISTA into a color display, allowing visualization of relative blood flow speeds. The method was found useful, in a small case series, for visualizing blood flow speeds in a variety of ocular diseases and serves as a step toward quantitative optical coherence tomography angiography.

PHACE syndrome misdiagnosed as a port-wine stain.

PubMed

Thomson, Jason; Greig, Aina; Lloyd, Claire; Morrison, Danny; Flohr, Carsten

2015-07-15

We present the case of a boy born with a large macular, segmental vascular anomaly over the left face, initially diagnosed as a capillary malformation (port-wine stain) by the postnatal paediatric team. The vascular anomaly in the face then grew rapidly during the first few weeks of life and started to occlude the left eye, causing parental concerns about the infant's vision. A dermatological opinion established that the lesion was a segmental infantile haemangioma (IH). This, in combination with the posterior fossa malformation previously detected on antenatal scanning and confirmed by an MRI postnatally, satisfied the criteria for Posterior fossa abnormalities, Haemangiomas, Arterial abnormalities, Cardiac abnormalities and Eye abnormalities (PHACE) syndrome: a rare cutaneous neurovascular syndrome. This case highlights the diagnostic challenge posed by early phenotypes of haemangiomas as well as the importance of correctly diagnosing PHACE syndrome. 2015 BMJ Publishing Group Ltd.

Electroencephalography in the Diagnosis of Genetic Generalized Epilepsy Syndromes

PubMed Central

Seneviratne, Udaya; Cook, Mark J.; D’Souza, Wendyl Jude

2017-01-01

Genetic generalized epilepsy (GGE) consists of several syndromes diagnosed and classified on the basis of clinical features and electroencephalographic (EEG) abnormalities. The main EEG feature of GGE is bilateral, synchronous, symmetric, and generalized spike-wave complex. Other classic EEG abnormalities are polyspikes, epileptiform K-complexes and sleep spindles, polyspike-wave discharges, occipital intermittent rhythmic delta activity, eye-closure sensitivity, fixation-off sensitivity, and photoparoxysmal response. However, admixed with typical changes, atypical epileptiform discharges are also commonly seen in GGE. There are circadian variations of generalized epileptiform discharges. Sleep, sleep deprivation, hyperventilation, intermittent photic stimulation, eye closure, and fixation-off are often used as activation techniques to increase the diagnostic yield of EEG recordings. Reflex seizure-related EEG abnormalities can be elicited by the use of triggers such as cognitive tasks and pattern stimulation during the EEG recording in selected patients. Distinct electrographic abnormalities to help classification can be identified among different electroclinical syndromes. PMID:28993753

Abnormal placental development and early embryonic lethality in EpCAM-null mice.

PubMed

Nagao, Keisuke; Zhu, Jianjian; Heneghan, Mallorie B; Hanson, Jeffrey C; Morasso, Maria I; Tessarollo, Lino; Mackem, Susan; Udey, Mark C

2009-12-31

EpCAM (CD326) is encoded by the tacstd1 gene and expressed by a variety of normal and malignant epithelial cells and some leukocytes. Results of previous in vitro experiments suggested that EpCAM is an intercellular adhesion molecule. EpCAM has been extensively studied as a potential tumor marker and immunotherapy target, and more recent studies suggest that EpCAM expression may be characteristic of cancer stem cells. To gain insights into EpCAM function in vivo, we generated EpCAM -/- mice utilizing an embryonic stem cell line with a tacstd1 allele that had been disrupted. Gene trapping resulted in a protein comprised of the N-terminus of EpCAM encoded by 2 exons of the tacstd1 gene fused in frame to betageo. EpCAM +/- mice were viable and fertile and exhibited no obvious abnormalities. Examination of EpCAM +/- embryos revealed that betageo was expressed in several epithelial structures including developing ears (otocysts), eyes, branchial arches, gut, apical ectodermal ridges, lungs, pancreas, hair follicles and others. All EpCAM -/- mice died in utero by E12.5, and were small, developmentally delayed, and displayed prominent placental abnormalities. In developing placentas, EpCAM was expressed throughout the labyrinthine layer and by spongiotrophoblasts as well. Placentas of EpCAM -/- embryos were compact, with thin labyrinthine layers lacking prominent vascularity. Parietal trophoblast giant cells were also dramatically reduced in EpCAM -/- placentas. EpCAM was required for differentiation or survival of parietal trophoblast giant cells, normal development of the placental labyrinth and establishment of a competent maternal-fetal circulation. The findings in EpCAM-reporter mice suggest involvement of this molecule in development of vital organs including the gut, kidneys, pancreas, lungs, eyes, and limbs.

Neuro-ophthalmologic aspects of multiple sclerosis: Using eye movements as a clinical and experimental tool

PubMed Central

Niestroy, Annette; Rucker, Janet C; Leigh, R John

2007-01-01

Ocular motor disorders are a well recognized feature of multiple sclerosis (MS). Clinical abnormalities of eye movements, early in the disease course, are associated with generalized disability, probably because the burden of disease in affected patients falls on the brainstem and cerebellar pathways, which are important for gait and balance. Measurement of eye movements, especially when used to detect internuclear ophthalmoplegia (INO), may aid diagnosis of MS. Measurement of the ocular following response to moving sinusoidal gratings of specified spatial frequency and contrast can be used as an experimental tool to better understand persistent visual complaints in patients who have suffered optic neuritis. Patients with MS who develop acquired pendular nystagmus often benefit from treatment with gabapentin or memantine. PMID:19668480

Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease.

PubMed

Moosajee, Mariya; Gregory-Evans, Kevin; Ellis, Charles D; Seabra, Miguel C; Gregory-Evans, Cheryl Y

2008-12-15

The extensive molecular genetic heterogeneity seen with inherited eye disease is a major barrier to the development of gene-based therapeutics. The underlying molecular pathology in a considerable proportion of these diseases however are nonsense mutations leading to premature termination codons. A therapeutic intervention targeted at this abnormality would therefore potentially be relevant to a wide range of inherited eye diseases. We have taken advantage of the ability of aminoglycoside drugs to suppress such nonsense mutations and partially restore full-length, functional protein in a zebrafish model of choroideraemia (chm(ru848); juvenile chorio-retinal degeneration) and in two models of ocular coloboma (noi(tu29a) and gup(m189); congenital optic fissure closure defects). In vitro cell-based assays showed significant readthrough with two drugs, gentamicin and paromomycin, which was confirmed by western blot and in vitro prenylation assays. The presence of either aminoglycoside during zebrafish development in vivo showed remarkable prevention of mutant ocular phenotypes in each model and a reduction in multisystemic defects leading to a 1.5-1.7-fold increase in survival. We also identified a significant reduction in abnormal cell death shown by TUNEL assay. To test the hypothesis that optic fissure closure was apoptosis-dependent, the anti-apoptotic agents, curcumin and zVAD-fmk, were tested in gup(m189) embryos. Both drugs were found to reduce the size of the coloboma, providing molecular evidence that cell death is required for optic fissure remodelling. These findings draw attention to the value of zebrafish models of eye disease as useful preclinical drug screening tools in studies to identify molecular mechanisms amenable to therapeutic intervention.

Abnormal tuning of saccade-related cells in pontine reticular formation of strabismic monkeys.

PubMed

Walton, Mark M G; Mustari, Michael J

2015-08-01

Strabismus is a common disorder, characterized by a chronic misalignment of the eyes and numerous visual and oculomotor abnormalities. For example, saccades are often highly disconjugate. For humans with pattern strabismus, the horizontal and vertical disconjugacies vary with eye position. In monkeys, manipulations that disturb binocular vision during the first several weeks of life result in a chronic strabismus with characteristics that closely match those in human patients. Early onset strabismus is associated with altered binocular sensitivity of neurons in visual cortex. Here we test the hypothesis that brain stem circuits specific to saccadic eye movements are abnormal. We targeted the pontine paramedian reticular formation, a structure that directly projects to the ipsilateral abducens nucleus. In normal animals, neurons in this structure are characterized by a high-frequency burst of spikes associated with ipsiversive saccades. We recorded single-unit activity from 84 neurons from four monkeys (two normal, one exotrope, and one esotrope), while they made saccades to a visual target on a tangent screen. All 24 neurons recorded from the normal animals had preferred directions within 30° of pure horizontal. For the strabismic animals, the distribution of preferred directions was normal on one side of the brain, but highly variable on the other. In fact, 12/60 neurons recorded from the strabismic animals preferred vertical saccades. Many also had unusually weak or strong bursts. These data suggest that the loss of corresponding binocular vision during infancy impairs the development of normal tuning characteristics for saccade-related neurons in brain stem. Copyright © 2015 the American Physiological Society.

Ultra-wide-field autofluorescence imaging in non-traumatic rhegmatogenous retinal detachment

PubMed Central

Witmer, M T; Cho, M; Favarone, G; Paul Chan, R V; D'Amico, D J; Kiss, S

2012-01-01

Purpose Rhegmatogenous retinal detachment (RRD) affects the function of the retina before and after surgical repair. We investigated ultra-wide-field autofluorescence (UAF) abnormalities in patients with acute RRD to improve our understanding of the functional changes in the retina before and after surgery. Methods In this retrospective study, we present the UAF imaging findings of 16 patients with acute, non-traumatic RRD. Imaging was obtained with the Optos 200 Tx (Optos) in 14 eyes preoperatively and in 12 eyes postoperatively. Twelve eyes had RRDs that involved the macula (group A), whereas four eyes had macula-sparing RRDs (group B). Results All patients (100%) with bullous retinal detachments demonstrated hypofluorescence over the area of retinal detachment. A hyperfluorescent leading edge (HLE) to the retinal detachment was observed preoperatively in 100% of eyes in group A and 75% of eyes in group B. Preoperative UAF through the fovea of group A eyes was normal (30%), hypofluorescent (50%) or hyperfluorescent (20%). In all patients with a HLE preoperatively, the HLE resolved by the 1-month postoperative visit. A residual line of demarcation remained in 8 of the 12 eyes (67%). In group A eyes, postoperative granular autofluorescent changes were present in four of the nine (44%) eyes, and were associated with worse preoperative (P=0.04) and postoperative (P=0.09) visual acuity. Conclusion UAF imaging reveals abnormalities in RRDs that allow excellent demarcation of the extent of the retinal detachment and assist in preoperative characterization of the detachment and postoperative counselling. PMID:22722489

Fibrosis and diseases of the eye

PubMed Central

Friedlander, Martin

2007-01-01

Most diseases that cause catastrophic loss of vision do so as a result of abnormal angiogenesis and wound healing, often in response to tissue ischemia or inflammation. Disruption of the highly ordered tissue architecture in the eye caused by vascular leakage, hemorrhage, and concomitant fibrosis can lead to mechanical disruption of the visual axis and/or biological malfunctioning. An increased understanding of inflammation, wound healing, and angiogenesis has led to the development of drugs effective in modulating these biological processes and, in certain circumstances, the preservation of vision. Unfortunately, such pharmacological interventions often are too little, too late, and progression of vision loss frequently occurs. The recent development of progenitor and/or stem cell technologies holds promise for the treatment of currently incurable ocular diseases. PMID:17332885

Diagnostic classification of macular ganglion cell and retinal nerve fiber layer analysis: differentiation of false-positives from glaucoma.

PubMed

Kim, Ko Eun; Jeoung, Jin Wook; Park, Ki Ho; Kim, Dong Myung; Kim, Seok Hwan

2015-03-01

To investigate the rate and associated factors of false-positive diagnostic classification of ganglion cell analysis (GCA) and retinal nerve fiber layer (RNFL) maps, and characteristic false-positive patterns on optical coherence tomography (OCT) deviation maps. Prospective, cross-sectional study. A total of 104 healthy eyes of 104 normal participants. All participants underwent peripapillary and macular spectral-domain (Cirrus-HD, Carl Zeiss Meditec Inc, Dublin, CA) OCT scans. False-positive diagnostic classification was defined as yellow or red color-coded areas for GCA and RNFL maps. Univariate and multivariate logistic regression analyses were used to determine associated factors. Eyes with abnormal OCT deviation maps were categorized on the basis of the shape and location of abnormal color-coded area. Differences in clinical characteristics among the subgroups were compared. (1) The rate and associated factors of false-positive OCT maps; (2) patterns of false-positive, color-coded areas on the GCA deviation map and associated clinical characteristics. Of the 104 healthy eyes, 42 (40.4%) and 32 (30.8%) showed abnormal diagnostic classifications on any of the GCA and RNFL maps, respectively. Multivariate analysis revealed that false-positive GCA diagnostic classification was associated with longer axial length and larger fovea-disc angle, whereas longer axial length and smaller disc area were associated with abnormal RNFL maps. Eyes with abnormal GCA deviation map were categorized as group A (donut-shaped round area around the inner annulus), group B (island-like isolated area), and group C (diffuse, circular area with an irregular inner margin in either). The axial length showed a significant increasing trend from group A to C (P=0.001), and likewise, the refractive error was more myopic in group C than in groups A (P=0.015) and B (P=0.014). Group C had thinner average ganglion cell-inner plexiform layer thickness compared with other groups (group A=B>C, P=0.004). Abnormal OCT diagnostic classification should be interpreted with caution, especially in eyes with long axial lengths, large fovea-disc angles, and small optic discs. Our findings suggest that the characteristic patterns of OCT deviation map can provide useful clues to distinguish glaucomatous changes from false-positive findings. Copyright © 2015 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

PubMed

Bleyl, Steven B; Byrne, Janice L B; South, Sarah T; Dries, David C; Stevenson, David A; Rope, Alan F; Vianna-Morgante, Angela M; Schoenwolf, Gary C; Kivlin, Jane D; Brothman, Arthur; Carey, John C

2007-12-01

We report on a mother and son affected with an unusual skeletal dysplasia and anterior segment eye abnormalities. Their skeletal phenotype overlaps with the SHOX-related skeletal dysplasias and is intermediate between Leri-Weill dyschondrosteosis (LWD) and Langer Mesomelic dysplasia (LMD). The mother has bilateral Peters anomaly of the eye and was reported as having a new syndrome; the son had severe bilateral sclerocornea. Chromosome analysis showed that the mother has a pericentric inversion of the X chromosome [46,X,inv(X)(p22.3q27)] and the son, a resultant recombinant X chromosome [46,Y,rec(X)dup(Xq)inv(X)(p22.3q27)]. The observed skeletal and ophthalmologic abnormalities in both patients were similar in severity. The additional features of developmental delay, growth retardation, agenesis of the corpus callosum, cryptorchidism and hypoplastic scrotum in the son are consistent with Xq28 duplication. Analysis of the son's recombinant X chromosome showed that the Xp22.33 breakpoint lies 30-68 kb 5' of the SHOX gene. This finding suggests that the skeletal dysplasia in both mother and son is allelic with LWD and LMD and results from a novel misexpression of SHOX. Analysis of the Xq27.1 breakpoint localized it to a 90 kb interval 3' of the SOX3 gene, supporting a novel role of SOX3 misexpression in the development of Peters anomaly of the eye. (c) 2007 Wiley-Liss, Inc.

Noonan's Syndrome and Autoimmune Thyroiditis

ERIC Educational Resources Information Center

Vesterhus, Per; Aarskog, Dagfinn

1973-01-01

Thyroid abnormalities were studies in seven boys and three girls, 4- to 17-years-old, with Noonan's syndrome, characterized by mental retardation, ocular anomalies (wide spaced eyes, drooped eye lids, or strabismus), heart lesions, characteristics of Turner's syndrome, and normal karyotypes (chromosome arrangement). (MC)

Optic nerve head component responses of the multifocal electroretinogram in MS.

PubMed

Frohman, Teresa C; Beh, Shin Chien; Saidha, Shiv; Schnurman, Zane; Conger, Darrel; Conger, Amy; Ratchford, John N; Lopez, Carmen; Galetta, Steven L; Calabresi, Peter A; Balcer, Laura J; Green, Ari J; Frohman, Elliot M

2013-08-06

To employ a novel stimulation paradigm in order to elicit multifocal electroretinography (mfERG)-induced optic nerve head component (ONHC) responses, believed to be contingent upon the transformation in electrical transmission properties of retinal ganglion cell axons from membrane to saltatory conduction mechanisms, as they traverse the lamina cribrosa and obtain oligodendrocyte myelin. We further sought to characterize abnormalities in ONHC responses in eyes from patients with multiple sclerosis (MS). In 10 normal subjects and 7 patients with MS (including eyes with and without a history of acute optic neuritis), we utilized a novel mfERG stimulation paradigm that included interleaved global flashes in order to elicit the ONHC responses from 103 retinal patches of pattern-reversal stimulation. The number of abnormal or absent ONHC responses was significantly increased in MS patient eyes compared to normal subject eyes (p < 0.001, by general estimating equation modeling, and accounting for age and within-subject, intereye correlations). Studying the relationship between ONHC abnormalities and alterations in validated structural and functional measures of the visual system may facilitate the ability to dissect and characterize the pathobiological mechanisms that contribute to tissue damage in MS, and may have utility to detect and monitor neuroprotective or restorative effects of novel therapies.

Fundus autofluorescence and fate of glycoxidized particles injected into subretinal space in rabbit age-related macular degeneration model.

PubMed

Hirata, Megumi; Yasukawa, Tsutomu; Wiedemann, Peter; Kimura, Erika; Kunou, Noriyuki; Eichler, Wolfram; Takase, Ayae; Sato, Rina; Ogura, Yuichiro

2009-07-01

Abnormal fundus autofluorescence (FAF) is associated with the incidence or progression of dry and wet age-related macular degeneration (AMD). We previously developed a rabbit AMD model with drusen and type-1 choroidal neovascularization (CNV) that mimics the accumulation of lipofuscin using artificial glycoxidized particles. The objective of the current study was to investigate in vitro effects of glycoxidized particles on retinal pigment epithelial (RPE) cells, and the FAF and fate of injected particles in this model. Glycoxidized particles were prepared by a 4-day incubation of water-in-oil emulsions of serum albumin and glycolaldehyde to allow glycoxidation and consequent cross-linking. After particles were added in the culture medium of confluent human RPE cells, cell viability, adhesion activity, and proliferation activity were assessed by cell counting. In anesthetized rabbits, 250 microg of glycoxidized particles were injected into the subretinal space to induce experimental AMD. FAF measurement and angiography with sodium fluorescein and indocyanine green were performed periodically using the Heidelberg Retina Angiograph 2 (HRA2). The eyes enucleated, and the lung and the spleen, excised at week 4 or 12, were histologically evaluated by light and fluorescence microscopy. Glycoxidized particles phagocytosed did not impair the cell viability, adhesion, and proliferation of RPE cells, as compared with RPE cells in controls. HRA2 showed different patterns of abnormal FAF in the area with the implanted glycoxidized particles, similar to pathological FAF patterns in aging human eyes with or without AMD. Histologic examination showed accumulated glycoxidized particles and large lipofuscin granules with green autofluorescence in and under the RPE and at the margins of or beneath drusen, possibly associated with abnormal FAF. In addition, some particles were detected in the lung and the spleen. Glycoxidized particles phagocytosed might stay in RPE cells without any acute biological reaction. Our rabbit model of AMD simulated abnormal FAF patterns observed in aging human eyes with or without AMD. Glycoxidized particles phagocytosed by RPE cells could be deposited on Bruch's membrane in rabbits, possibly excreted in part into choroidal circulation. This model may be useful for understanding various patterns of abnormal FAF histologically, and for elucidating the pathogenesis of AMD.

Reproducibility of retinal nerve fiber layer thickness measures using eye tracking in children with nonglaucomatous optic neuropathy.

PubMed

Rajjoub, Raneem D; Trimboli-Heidler, Carmelina; Packer, Roger J; Avery, Robert A

2015-01-01

To determine the intra- and intervisit reproducibility of circumpapillary retinal nerve fiber layer (RNFL) thickness measures using eye tracking-assisted spectral-domain optical coherence tomography (SD OCT) in children with nonglaucomatous optic neuropathy. Prospective longitudinal study. Circumpapillary RNFL thickness measures were acquired with SD OCT using the eye-tracking feature at 2 separate study visits. Children with normal and abnormal vision (visual acuity ≥ 0.2 logMAR above normal and/or visual field loss) who demonstrated clinical and radiographic stability were enrolled. Intra- and intervisit reproducibility was calculated for the global average and 9 anatomic sectors by calculating the coefficient of variation and intraclass correlation coefficient. Forty-two subjects (median age 8.6 years, range 3.9-18.2 years) met inclusion criteria and contributed 62 study eyes. Both the abnormal and normal vision cohort demonstrated the lowest intravisit coefficient of variation for the global RNFL thickness. Intervisit reproducibility remained good for those with normal and abnormal vision, although small but statistically significant increases in the coefficient of variation were observed for multiple anatomic sectors in both cohorts. The magnitude of visual acuity loss was significantly associated with the global (ß = 0.026, P < .01) and temporal sector coefficient of variation (ß = 0.099, P < .01). SD OCT with eye tracking demonstrates highly reproducible RNFL thickness measures. Subjects with vision loss demonstrate greater intra- and intervisit variability than those with normal vision. Copyright © 2015 Elsevier Inc. All rights reserved.

The Tennessee Mouse Genome Consortium: Identification of ocular mutants

DOE Office of Scientific and Technical Information (OSTI.GOV)

Jablonski, Monica M.; Wang, Xiaofei; Lu, Lu

2005-06-01

The Tennessee Mouse Genome Consortium (TMGC) is in its fifth year of a ethylnitrosourea (ENU)-based mutagenesis screen to detect recessive mutations that affect the eye and brain. Each pedigree is tested by various phenotyping domains including the eye, neurohistology, behavior, aging, ethanol, drug, social behavior, auditory, and epilepsy domains. The utilization of a highly efficient breeding protocol and coordination of various universities across Tennessee makes it possible for mice with ENU-induced mutations to be evaluated by nine distinct phenotyping domains within this large-scale project known as the TMGC. Our goal is to create mutant lines that model human diseases andmore » disease syndromes and to make the mutant mice available to the scientific research community. Within the eye domain, mice are screened for anterior and posterior segment abnormalities using slit-lamp biomicroscopy, indirect ophthalmoscopy, fundus photography, eye weight, histology, and immunohistochemistry. As of January 2005, we have screened 958 pedigrees and 4800 mice, excluding those used in mapping studies. We have thus far identified seven pedigrees with primary ocular abnormalities. Six of the mutant pedigrees have retinal or subretinal aberrations, while the remaining pedigree presents with an abnormal eye size. Continued characterization of these mutant mice should in most cases lead to the identification of the mutated gene, as well as provide insight into the function of each gene. Mice from each of these pedigrees of mutant mice are available for distribution to researchers for independent study.« less

Ultrathin flexible piezoelectric sensors for monitoring eye fatigue

NASA Astrophysics Data System (ADS)

Lü, Chaofeng; Wu, Shuang; Lu, Bingwei; Zhang, Yangyang; Du, Yangkun; Feng, Xue

2018-02-01

Eye fatigue is a symptom induced by long-term work of both eyes and brains. Without proper treatment, eye fatigue may incur serious problems. Current studies on detecting eye fatigue mainly focus on computer vision detect technology which can be very unreliable due to occasional bad visual conditions. As a solution, we proposed a wearable conformal in vivo eye fatigue monitoring sensor that contains an array of piezoelectric nanoribbons integrated on an ultrathin flexible substrate. By detecting strains on the skin of eyelid, the sensors may collect information about eye blinking, and, therefore, reveal human’s fatigue state. We first report the design and fabrication of the piezoelectric sensor and experimental characterization of voltage responses of the piezoelectric sensors. Under bending stress, the output voltage curves yield key information about the motion of human eyelid. We also develop a theoretical model to reveal the underlying mechanism of detecting eyelid motion. Both mechanical load test and in vivo test are conducted to convince the working performance of the sensors. With satisfied durability and high sensitivity, this sensor may efficiently detect abnormal eyelid motions, such as overlong closure, high blinking frequency, low closing speed and weak gazing strength, and may hopefully provide feedback for assessing eye fatigue in time so that unexpected situations can be prevented.

Rates of retinal nerve fiber layer thinning in glaucoma suspect eyes

PubMed Central

Miki, Atsuya; Medeiros, Felipe A.; Weinreb, Robert N.; Jain, Sonia; He, Feng; Sharpsten, Lucie; Khachatryan, Naira; Hammel, Na’ama; Liebmann, Jeffrey M.; Girkin, Christopher A.; Sample, Pamela A.; Zangwill, Linda M.

2015-01-01

Purpose To compare the rates of retinal nerve fiber layer (RNFL) loss in patients suspect of having glaucoma who developed visual field damage (VFD) to those who did not develop VFD, and to determine whether the rate of RNFL loss can be used to predict who will develop VFD.. Design Prospective observational cohort study Participants Glaucoma suspects, defined as having glaucomatous optic neuropathy or ocular hypertension (Intraocular pressure (IOP)>21 mmHg) without repeatable VFD at baseline from the Diagnostic Innovations in Glaucoma Study, and the African Descent and Glaucoma Evaluation Study. Methods Global and quadrant RNFL thickness (RNFLT) were measured with the Spectralis spectral-domain optical coherence tomography (SD-OCT). VFD was defined as having 3 consecutive abnormal visual fields. The rate of RNFL loss in eyes developing VFD was compared with eyes not developing VFD using multivariable linear mixed-effects models. A joint longitudinal survival model utilized the estimated RNFLT slope to predict the risk of developing VFD, while adjusting for potential confounding variables. Main Outcome Measures The rate of RNFL thinning and the probability of developing VFD. Results Four hundred and fifty-four eyes of 294 glaucoma suspects were included. The average number of SD-OCT examinations was 4.6 (range, 2–9) with median follow-up time of 2.2 (0.4–4.1) years. Forty eyes (8.8%) developed VFD. The estimated mean rate of global RNFL loss was significantly faster in eyes developing VFD compared with eyes that did not (−2.02μm/year vs. −0.82μm/year, P<0.001). The joint longitudinal survival model showed that each 1μm/year faster rate of global RNFL loss corresponded to a 2.05 times higher risk of developing VFD (Hazards Ratio (HR)=2.05, 95% Confidence Interval (CI): 1.14–3.71; p=0.017). Conclusions The rate of global RNFL loss was more than twice as fast in eyes developing VFD compared with eyes that did not develop them. Joint longitudinal survival model showed that a 1μm/year faster rate of RNFLT loss corresponded to a 2.05 times higher risk of developing VFD. These results suggest that measuring the rate of SD-OCT RNFL loss may be a useful tool to help identify patients who are at a high risk of developing visual field loss. PMID:24629619

Changes in the tear film and ocular surface from dry eye syndrome.

PubMed

Johnson, Michael E; Murphy, Paul J

2004-07-01

Dry eye syndrome (DES) refers to a spectrum of ocular surface diseases with diverse and frequently multiple aetiologies. The common feature of the various manifestations of DES is an abnormal tear film. Tear film abnormalities associated with DES are tear deficiency, owing to insufficient supply or excessive loss, and anomalous tear composition. These categorizations are artificial, as in reality both often coexist. DES disrupts the homeostasis of the tear film with its adjacent structures, and adversely affects its ability to perform essential functions such as supporting the ocular surface epithelium and preventing microbial invasion. In addition, whatever the initial trigger, moderate and severe DES is characterized by ocular surface inflammation, which in turn becomes the cause and consequence of cell damage, creating a self-perpetuating cycle of deterioration. Progress has been made in our understanding of the aetiology and pathogenesis of DES, and these advances have encouraged a proliferation of therapeutic options. This article aims to amalgamate prevailing ideas of DES development, and to assist in that, relevant aspects of the structure, function, and production of the tear film are reviewed. Additionally, a synopsis of therapeutic strategies for DES is presented, detailing treatments currently available, and those in development.

Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency

PubMed Central

Cheli, Verónica T.; Daniels, Richard W.; Godoy, Ruth; Hoyle, Diego J.; Kandachar, Vasundhara; Starcevic, Marta; Martinez-Agosto, Julian A.; Poole, Stephen; DiAntonio, Aaron; Lloyd, Vett K.; Chang, Henry C.; Krantz, David E.; Dell'Angelica, Esteban C.

2010-01-01

Biogenesis of lysosome-related organelles complex 1 (BLOC-1) is a protein complex formed by the products of eight distinct genes. Loss-of-function mutations in two of these genes, DTNBP1 and BLOC1S3, cause Hermansky–Pudlak syndrome, a human disorder characterized by defective biogenesis of lysosome-related organelles. In addition, haplotype variants within the same two genes have been postulated to increase the risk of developing schizophrenia. However, the molecular function of BLOC-1 remains unknown. Here, we have generated a fly model of BLOC-1 deficiency. Mutant flies lacking the conserved Blos1 subunit displayed eye pigmentation defects due to abnormal pigment granules, which are lysosome-related organelles, as well as abnormal glutamatergic transmission and behavior. Epistatic analyses revealed that BLOC-1 function in pigment granule biogenesis requires the activities of BLOC-2 and a putative Rab guanine-nucleotide-exchange factor named Claret. The eye pigmentation phenotype was modified by misexpression of proteins involved in intracellular protein trafficking; in particular, the phenotype was partially ameliorated by Rab11 and strongly enhanced by the clathrin-disassembly factor, Auxilin. These observations validate Drosophila melanogaster as a powerful model for the study of BLOC-1 function and its interactions with modifier genes. PMID:20015953

[Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: a case report].

PubMed

Costet, C; Betis, F; Bérard, E; Tsimaratos, M; Sigaudy, S; Antignac, C; Gastaud, P

2000-02-01

Sensenbrenner syndrome or cranio-ectodermal dysplasia is an extremely rare autosomal recessive condition (12 cases reported in literature). Our observation shows the possibility of both ocular and renal involvement associated with cranio-ectodermal abnormalities. and method:We report the case of a girl who presented a typical cranio-ectodermal syndrome with dolicocephaly, short thorax, short limbs, short fingers and teeth abnormalities. At five years, she was found to have pigmentosum retinitis with amblyopy and moderate hyperopia. A chronic renal failure with uncontrollable hypertension underwent a cadaveric-donor transplantation at the age of six years. Two years later, the pigmentosum retinitis was stable. The kidney histology revealed a tubulo-interstitial nephronophtisis. The molecular analysis of the NPH 1 locus, which was associated with nephronophtisis, was negative. Our observation and two recent publications have in common ocular and renal abnormalities associated with cranio-ectodermal dysplasia. The underlying genetic defect would involve not only morphogenesis but also development and maturation of organs as eye and kidney. Sensenbrenner syndrome would thus be similar to certain disorders affecting the eye, kidney, skeleton and ectodermal structures such as the EEM, Senior-Loken, Mainzer-Saldino, and Jeune syndromes. The retinal dystrophy falls within the spectrum of clinical and genetic forms of pigmentosum retinitis. Our observation would confirm possible links between Sensenbrenner syndrome and oculorenal syndromes.

Dry eye and meibomian gland dysfunction in pseudophakic bullous keratopathy.

PubMed

Palamar, Melis; Kiyat, Pelin; Yagci, Ayse

2018-02-01

To evaluate dry eye tests and meibography of patients with pseudophakic bullous keratopathy (PBK). Thirty-seven patients with PBK were included. The eyes with PBK were compared with the normal pseudophakic fellow eyes. All patients had undergone a detailed ophthalmic examination including corneal and conjunctival fluorescein staining and Oxford scoring, tear film breakup time, Schirmer 1 test, Ocular Surface Disease Index (OSDI) score assessment, lid margin abnormalities, upper and lower eyelid Meibomian gland evaluation using infrared captures of a biomicroscope. Partial or complete loss of the Meibomian glands (Meibomian dropout) was scored for each eyelid from grade 0 (no loss) through grade 3 (lost area was > 2/3 of the total meibomian gland area). The mean age of the patients was 73.2 ± 8.9 (range, 50-93). Mean tear film breakup time value was statistically lower in PBK eyes (P ≤ 0.001). OSDI, Oxford, lid margin abnormalities, inferior meibography, total meibography score were significantly higher in PBK eyes (P ≤ 0.001). The comparison of Schirmer 1 and superior meibography scores of the groups was insignificant (P = 0.143, P = 0.793, respectively). The Meibomian gland morphology of the PBK eyes demonstrates significant differences when compared with normal fellow eyes and might be related to evaporative dry eye. For this reason, patients with PBK should be monitored for Meibomian gland dysfunction and when needed start prompt treatment in order to prevent further disturbance of the ocular surface.

Deficiency of adaptive control of the binocular coordination of saccades in strabismus.

PubMed

Bucci, M P; Kapoula, Z; Eggert, T; Garraud, L

1997-10-01

Disconjugate (different in the two eyes) oculomotor adaptation is driven by the need to maintain binocular vision. Since binocular vision is deficient in strabismus, we wondered whether oculomotor disconjugate adaptive capabilities are deficient in such subjects. We studied eight adult subjects with constant, long-standing convergent strabismus of variable angles (4-30 prism D). No subject had severe amblyopia. Binocular vision was evaluated with stereoacuity tests. Two subjects had peripheral binocular vision and gross stereopsis; two other subjects had abnormal retinal correspondence and abnormal or pseudo gross stereopsis. In the other subjects binocular vision and stereopsis were absent. To stimulate disconjugate changes of saccades, subjects viewed for 20 min an image that was magnified in one eye (aniseikonia). Subjects with residual peripheral binocular vision and even subjects with pseudo or abnormal binocular vision showed disconjugate changes of the binocular coordination of their saccades; these changes reduced the disparity resulting from the aniseikonia. In contrast, for subjects without binocular vision the changes were not correlated with the disparity induced by the aniseikonia. Rather, these changes served to improve fixation of one or the other eye individually.

Reading strategies in mild to moderate strabismic amblyopia: an eye movement investigation.

PubMed

Kanonidou, Evgenia; Proudlock, Frank A; Gottlob, Irene

2010-07-01

PURPOSE. To investigate oculomotor strategies in strabismic amblyopia and evaluate abnormalities during monocular and binocular reading. METHODS. Eye movements were recorded with a head-mounted infrared video eye-tracker (250 Hz, <0.01 degrees resolution) in 20 strabismic amblyopes (mean age, 44.9 +/- 10.7 years) and 20 normal control subjects (mean age, 42.8 +/- 10.9 years) while they silently read paragraphs of text. Monocular reading comparisons were made between the amblyopic eye and the nondominant eye of control subjects and the nonamblyopic eye and the dominant eye of the control subjects. Binocular reading between the amblyopic and control subjects was also compared. RESULTS. Mean reading speed, number of progressive and regressive saccades per line, saccadic amplitude (of progressive saccades), and fixation duration were estimated. Inter- and intrasubject statistical comparisons were made. Reading speed was significantly slower in amblyopes than in control subjects during monocular reading with amblyopic (13.094 characters/s vs. 22.188 characters/s; P < 0.0001) and nonamblyopic eyes (16.241 characters/s vs. 22.349 characters/s, P < 0.0001), and binocularly (15.698 characters/s vs. 23.425 characters/s, P < 0.0001). In amblyopes, reading was significantly slower with the amblyopic eye than with the nonamblyopic eye in binocular viewing (P < 0.05). These differences were associated with significantly more regressive saccades and longer fixation durations, but not with changes in saccadic amplitudes. CONCLUSIONS. In strabismic amblyopia, reading is impaired, not only during monocular viewing with the amblyopic eye, but also with the nonamblyopic eye and binocularly, even though normal visual acuity pertains to the latter two conditions. The impaired reading performance is associated with differences in both the saccadic and fixational patterns, most likely as adaptation strategies to abnormal sensory experiences such as crowding and suppression.

Use of 2-octyl cyanoacrylate for wound closure in a modified Roberts-Bistner procedure for eyelid agenesis in five cats (nine eyes).

PubMed

Reed, Zoe; Doering, Clinton J; Barrett, Paul M

2018-01-15

CASE DESCRIPTION 5 cats (9 eyes) were evaluated for surgical correction of bilateral eyelid agenesis. CLINICAL FINDINGS All eyes lacked > 25% of the temporal upper eyelid, and all cats had clinical signs attributable to chronic ocular exposure. Abnormalities were limited to the ocular surface in the 4 female cats, whereas the sole male cat had additional abnormalities consistent with anterior segment dysgenesis. TREATMENT AND OUTCOME A modified Roberts-Bistner procedure involving 2-octyl cyanoacrylate (2OCA) was performed on 9 eyes; 1 eye was enucleated. Surgical wounds in the initial 3 eyes were closed with 2OCA plus sutures, and flaps were lined with conjunctiva. The technique was optimized for remaining eyes by use of a single suture for flap apposition, no conjunctival lining of flaps, and 2OCA alone for wound closure. Median duration of surgery was 35 minutes/eye for the initial 3 eyes versus 16 minutes/eye for the subsequent 6 eyes treated with the optimized procedure. After surgery, all cats had complete palpebral reflexes and resolution of clinical signs of ocular irritation. Minor complications in the early postoperative period included eyelid swelling (n = 9), poor cosmesis (7), and persistent epiphora (3). By the second recheck examination, swelling had resolved and cosmesis was considered excellent. Two eyes with epiphora had been treated with the initial modified procedure and required cryoepilation for resolution of epiphora. CLINICAL RELEVANCE The modified Roberts-Bistner procedure for eyelid agenesis involving 2OCA for wound closure provided functional, cosmetic eyelids that improved comfort and provided protection of the ocular surface in affected cats.

Retinal nerve fibre thickness measured with optical coherence tomography accurately detects confirmed glaucomatous damage

PubMed Central

Hood, D C; Harizman, N; Kanadani, F N; Grippo, T M; Baharestani, S; Greenstein, V C; Liebmann, J M; Ritch, R

2007-01-01

Aim To assess the accuracy of optical coherence tomography (OCT) in detecting damage to a hemifield, patients with hemifield defects confirmed on both static automated perimetry (SAP) and multifocal visual evoked potentials (mfVEP) were studied. Methods Eyes of 40 patients with concomitant SAP and mfVEP glaucomatous loss and 25 controls underwent OCT retinal nerve fibre layer (RNFL), mfVEP and 24‐2 SAP tests. For the mfVEP and 24‐2 SAP, a hemifield was defined as abnormal based upon cluster criteria. On OCT, a hemifield was considered abnormal if one of the five clock hour sectors (3 and 9 o'clock excluded) was at <1% (red) or two were at <5% (yellow). Results Seventy seven (43%) of the hemifields were abnormal on both mfVEP and SAP tests. The OCT was abnormal for 73 (95%) of these. Only 1 (1%) of the 100 hemifields of the controls was abnormal on OCT. Sensitivity/specificity (one eye per person) was 95/98%. Conclusions The OCT RNFL test accurately detects abnormal hemifields confirmed on both subjective and objective functional tests. Identifying abnormal hemifields with a criterion of 1 red (1%) or 2 yellow (5%) clock hours may prove useful in clinical practice. PMID:17301118

Comparison of digital color fundus imaging and fluorescein angiographic findings for the early detection of diabetic retinopathy in young type 1 diabetic patients.

PubMed

Kapsala, Z; Anastasakis, A; Mamoulakis, D; Maniadaki, I; Tsilimbaris, M

2018-01-01

To compare the findings from digital 7-field color fundus (CF) photography and fundus fluorescein angiography (FFA) in young patients with diabetes mellitus (DM) type 1 without known diabetic retinopathy. In this prospective, observational cohort study, 54 type 1 diabetic patients were recruited. Participants had been diagnosed with diabetes mellitus (DM) for at least 6 years, had Best Corrected Visual Acuity of 20/25 or better and did not have any known retinal pathology. One hundred and seven eyes were analyzed. All patients underwent a complete ophthalmic examination in the Retina Service of a University Eye Clinic including digital CF imaging and FFA. The mean age of the patients was 18.6 years. Mean duration of DM was 11.3 years, and mean haemoglobin A1c (HbA1c) level was 8.6%. Of the 107 eyes, 8 eyes (7.5%) showed microvascular abnormalities on CF images, while FFA images revealed changes in 26 eyes (24.3%). Hence, 18 of the 26 eyes showing abnormalities on FFA did not show any abnormalities on CF images. Mean DM duration in the patient group with detectable microvascular changes was found to be significantly higher compared to patients without changes, while no difference in HbA1c levels, serum lipid levels or blood pressure was observed. Comparison of digital CF and FFA findings for the detection of diabetic microvascular changes in type 1 diabetic patients showed that FFA reveals more information about retinal vascular pathology for early detection of diabetic retinopathy. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Segmented swept source optical coherence tomography angiography assessment of the perifoveal vasculature in patients with X-linked juvenile retinoschisis: a serial case report.

PubMed

Stringa, Francesco; Tsamis, Emmanouli; Papayannis, Alessandro; Chwiejczak, Katarzyna; Jalil, Assad; Biswas, Susmito; Ahmad, Hassan; Stanga, Paulo Eduardo

2017-01-01

To describe perifoveal microvascular changes occurring in X-linked juvenile retinoschisis (XLRS) using swept source optical coherence tomography angiography (SS OCTA). This is a serial case report of three patients. Retrospective data of patients affected by XLRS were collected. Structural optical coherence tomography (OCT) and color fundus photography (CFPh) were carried out with Topcon ® OCT 2000 3D OCT as part of the standard care. Two patients were imaged on Topcon Atlantis ® SS OCTA and one on Topcon Triton ® SS OCTA. SS OCTA images were acquired using the 3 × 3 mm fovea-centered cubes scanning protocol. Analysis of both perifoveal superficial vascular plexus (pSVP) and perifoveal deep vascular plexus (pDVP) was performed by two observers after automated segmentation. Four eyes of three males (mean age 14 ± 3.8 years) were analyzed. All eyes showed foveoschisis on CFPh images. OCT B-scans of three eyes showed schistic cysts in the ganglion cell layer, inner nuclear layer (INL) and outer nuclear layer (ONL); in one eye, cysts were depicted in INL and ONL only. In two eyes, SS OCTA showed abnormal foveal avascular zone (FAZ) shape in the pSVP, and in the other two, FAZ shape was abnormal in both plexuses. In all eyes, retinal vascular abnormalities (ie, microvascular protrusions) were present in pDVP. SS OCTA can depict perifoveal microvascular changes in young patients affected by XLRS. In this study, the structural and vascular changes seem to be more evident in the pDVP and may represent a useful biomarker of prognosis.

In vivo optical imaging of amblyopia: Digital subtraction autofluorescence and split-spectrum amplitude-decorrelation angiography.

PubMed

Guo, Lei; Tao, Jun; Xia, Fan; Yang, Zhi; Ma, Xiaoli; Hua, Rui

2016-09-01

Amblyopia is a visual impairment that is attributed to either abnormal binocular interactions or visual deprivation. The retina and choroids have been shown to be involved in the development of amblyopia. The purpose of this study was to investigate the retinal and choroidal microstructural abnormalities of amblyopia using digital subtraction autofluorescence and split-spectrum amplitude-decorrelation angiography (SSADA) approaches. This prospective study included 44 eyes of 22 patients with unilateral amblyopia. All patients who received indirect ophthalmoscopy, combined depth imaging spectral domain optical coherence tomography (OCT), SSADA-OCT, and macular blue light (BL-) and near-infrared (NIR-) autofluorescences underwent pupil dilation. The subfoveal choroidal thickness (SFCT) was measured. BL- and NIR-autofluorescences were determined for all patients and used to generate subtraction images with ImageJ software. The superficial, deep layers of the retina, and inner choroid layer were required for SSADA-OCT. For the normal eyes, a regularly increasing signal was observed in the central macula based on the subtraction images. In contrast, a decreased signal for the central patch or a reduced peak was detected in 16 of 22 amblyopic eyes (72.7%). The mean SFCT of the amblyopic eyes was greater than that of the fellow normal eyes (399.25 ± 4.944 µm vs. 280.58 ± 6.491 µm, respectively, P < 0.05). SSADA-OCT revealed a normal choroidal capillary network in all fellow normal eyes. However, 18 of 22 amblyopic eyes (86.4%) exhibited a blurry choroidal capillary network, and 15 of 22 amblyopic eyes (68.2%) displayed a dark atrophic patch. This is the first report of amblyopia using SSADA-OCT and digital subtraction images of autofluorescence. The mechanistic relationship of a thicker choroid and choroidal capillary atrophy with amblyopia remains to be described. The digital subtraction image confirmed the changes in the microstructure of the amblyopic retina as a supplementary approach to detect the progression of amblyopia. Lasers Surg. Med. 48:660-667, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Retinal detachment in hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome: Color vision abnormality as the first and predominant manifestation.

PubMed

Morisawa, Hiroyuki; Makino, Shinji; Takahashi, Hironori; Sorita, Mari; Matsubara, Shigeki

2015-11-01

Serous retinal detachment is sometimes caused by hypertensive disorders in pregnancy and its associated conditions, in which the predominant eye symptoms are blurred vision, distorted vision, and reduced visual acuity. To our best knowledge, this is the first report of a puerperal woman with hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome in whom color vision abnormality was the first and predominant manifestation of serous retinal detachment. At 32 weeks of gestation, the 34-year-old Japanese woman underwent cesarean section due to HELLP syndrome. She complained of color vision abnormality on day 1 post-partum and ophthalmological examination revealed serous retinal detachment of both eyes. The visual acuity was preserved. With supportive therapy, her color vision abnormality gradually ameliorated and retinal detachment completely resolved on day 34 post-partum without any sequelae. Obstetricians should be aware that color vision abnormality can be the first and predominant symptom of HELLP-related serous retinal detachment. © 2015 Japan Society of Obstetrics and Gynecology.

Visual acuity at 10 years in Cryotherapy for Retinopathy of Prematurity (CRYO-ROP) study eyes: effect of retinal residua of retinopathy of prematurity.

PubMed

Dobson, Velma; Quinn, Graham E; Summers, C Gail; Hardy, Robert J; Tung, Betty

2006-02-01

To describe recognition (letter) acuity at age 10 years in eyes with and without retinal residua of retinopathy of prematurity (ROP). Presence and severity of ROP residua were documented by a study ophthalmologist. Masked testers measured monocular recognition visual acuity (Early Treatment of Diabetic Retinopathy Study) when the children were 10 years old. Two hundred forty-seven of 255 surviving Cryotherapy for Retinopathy of Prematurity (CRYO-ROP) randomized trial patients participated. A reference group of 102 of 104 Philadelphia-based CRYO-ROP study participants who did not develop ROP was also tested. More severe retinal residua were associated with worse visual acuity, regardless of whether retinal ablation was performed to treat the severe acute-phase ROP. However, within each ROP residua category, there was a wide range of visual acuity results. This is the first report of the relation between visual acuity (Early Treatment of Diabetic Retinopathy Study charts) and structural abnormalities related to ROP in a large group of eyes that developed threshold ROP in the perinatal period. Visual deficits are greater in eyes with more severe retinal residua than in eyes with mild or no residua. However, severity of ROP residua does not predict the visual acuity of an individual eye because within a single residua category, acuity may range from near normal to blind.

Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance

PubMed Central

Manuel, Martine; Pratt, Thomas; Liu, Min; Jeffery, Glen; Price, David J

2008-01-01

Background The transcription factor Pax6 is expressed by many cell types in the developing eye. Eyes do not form in homozygous loss-of-function mouse mutants (Pax6Sey/Sey) and are abnormally small in Pax6Sey/+ mutants. Eyes are also abnormally small in PAX77 mice expressing multiple copies of human PAX6 in addition to endogenous Pax6; protein sequences are identical in the two species. The developmental events that lead to microphthalmia in PAX77 mice are not well-characterised, so it is not clear whether over- and under-expression of Pax6/PAX6 cause microphthalmia through similar mechanisms. Here, we examined the consequences of over-expression for the eye and its axonal connections. Results Eyes form in PAX77+/+ embryos but subsequently degenerate. At E12.5, we found no abnormalities in ocular morphology, retinal cell cycle parameters and the incidence of retinal cell death. From E14.5 on, we observed malformations of the optic disc. From E16.5 into postnatal life there is progressively more severe retinal dysplasia and microphthalmia. Analyses of patterns of gene expression indicated that PAX77+/+ retinae produce a normal range of cell types, including retinal ganglion cells (RGCs). At E14.5 and E16.5, quantitative RT-PCR with probes for a range of molecules associated with retinal development showed only one significant change: a slight reduction in levels of mRNA encoding the secreted morphogen Shh at E16.5. At E16.5, tract-tracing with carbocyanine dyes in PAX77+/+ embryos revealed errors in intraretinal navigation by RGC axons, a decrease in the number of RGC axons reaching the thalamus and an increase in the proportion of ipsilateral projections among those RGC axons that do reach the thalamus. A survey of embryos with different Pax6/PAX6 gene dosage (Pax6Sey/+, Pax6+/+, PAX77+ and PAX77+/+) showed that (1) the total number of RGC axons projected by the retina and (2) the proportions that are sorted into the ipsilateral and contralateral optic tracts at the optic chiasm vary differently with gene dosage. Increasing dosage increases the proportion projecting ipsilaterally regardless of the size of the total projection. Conclusion Pax6 overexpression does not obviously impair the initial formation of the eye and its major cell-types but prevents normal development of the retina from about E14.5, leading eventually to severe retinal degeneration in postnatal life. This sequence is different to that underlying microphthalmia in Pax6+/- heterozygotes, which is due primarily to defects in the initial stages of lens formation. Before the onset of severe retinal dysplasia, Pax6 overexpression causes defects of retinal axons, preventing their normal growth and navigation through the optic chiasm. PMID:18507827

Exploring topical anti-glaucoma medication effects on the ocular surface in the context of the current understanding of dry eye.

PubMed

Wong, Aaron B C; Wang, Michael T M; Liu, Kevin; Prime, Zak J; Danesh-Meyer, Helen V; Craig, Jennifer P

2018-07-01

To assess tear film parameters, ocular surface characteristics, and dry eye symptomology in patients receiving topical anti-glaucoma medications. Thirty-three patients with a diagnosis of open angle glaucoma or ocular hypertension, receiving unilateral topical anti-glaucoma medication for at least 6 months, were recruited in a cross-sectional, investigator-masked, paired-eye comparison study. Tear film parameters, ocular surface characteristics, and dry eye symptomology of treated and fellow eyes were evaluated and compared. The mean ± SD age of the participants was 67 ± 12 years, and the mean ± SD treatment duration was 5.3 ± 4.4 years. Treated eyes had poorer non-invasive tear film breakup time (p = 0.03), tear film osmolarity (p = 0.04), bulbar conjunctival hyperaemia (p = 0.04), eyelid margin abnormality grade (p = 0.01), tear meniscus height (p = 0.03), and anaesthetised Schirmer value (p = 0.04) than fellow eyes. There were no significant differences in dry eye symptomology, meibomian gland assessments, and ocular surface staining between treated and fellow eyes (all p > 0.05). Adverse changes in tear film stability, tear osmolarity, conjunctival hyperaemia, and eyelid margins were observed in treated eyes. This suggests that inflammatory mechanisms may be implicated in the development of dry eye in patients receiving long term topical anti-glaucoma therapy. Copyright © 2018 Elsevier Inc. All rights reserved.

Effects of tributyltin (TBT) on Xenopus tropicalis embryos at environmentally relevant concentrations.

PubMed

Guo, Suzhen; Qian, Lijuan; Shi, Huahong; Barry, Terence; Cao, Qinzhen; Liu, Junqi

2010-04-01

Tributyltin (TBT) has been widely used as a biocide in antifouling paints and is a known endocrine disrupting chemical. In this paper, we exposed embryos of Xenopus tropicalis to 50-400ngL(-1) tributyltin chloride. TBT significantly decreased the survival rate, reduced the body length and retarded the development of embryos after 24, 36 and 48h of exposure. These effects of TBT were concentration- and time-dependent. Embryos treated with TBT showed multiple malformations. The most obvious alterations were abnormal eyes, enlarged proctodaeum, narrow fins, and skin hypopigmentation. Enlarged proctodaeum and narrow fins were mainly observed after 36 and 48h of exposure. The loss of eye pigmentation or the absence of external eyes occurred after 24 and 36h of exposure, while extended lenses or edemas of eyes were more commonly observed after 48h of exposure. Additional malformations included: small anterior region of heads, pericardial edemas, enlarged trunks, and bent tails. These results suggested that TBT is very toxic to X. tropicalis embryos at environmentally relevant concentrations.

Sympathetic ophthalmia: incidence of ocular complications and vision loss in the sympathizing eye.

PubMed

Galor, Anat; Davis, Janet L; Flynn, Harry W; Feuer, William J; Dubovy, Sander R; Setlur, Vikram; Kesen, Muge R; Goldstein, Debra A; Tessler, Howard H; Ganelis, Irina Bykhovskaya; Jabs, Douglas A; Thorne, Jennifer E

2009-11-01

To report the frequency on presentation and subsequent incidence of ocular complications and vision loss in patients with sympathetic ophthalmia (SO) and to describe factors associated with decreased vision in the sympathizing eye. Multicenter retrospective case series. Three academic tertiary care uveitis clinics. Eighty-five patients with SO from 1976 to 2006. Review of existing medical records. Incident visual acuity (VA) loss to 20/50 or worse and 20/200 or worse and the median acuity over time. Twenty-six percent of patients with SO presented with a VA of 20/200 or worse in their sympathizing eye. Further development of vision loss to 20/200 or worse occurred at the rate of 10% per person-year (PY). Ocular complications were seen in the sympathizing eye in 47% of patients at presentation; further development of new complications occurred at the rate of 40%/PY. The ocular complications most often associated with decreased vision were cataract and optic nerve abnormality. Exudative retinal detachment and active intraocular inflammation were significantly associated with poorer VA in the sympathizing eye. The benefits of corticosteroids were indirectly demonstrated as their use led to more rapid disease inactivation. Fifty-nine percent of patients maintained a VA of better than 20/50 in their sympathizing eye; and 75% maintained a VA of better than 20/200. Although ocular complications were seen in many sympathizing eyes with SO, most patients maintained functional VA. The presence of an exudative retinal detachment and active intraocular inflammation correlated with poorer vision in the sympathizing eye.

[Hereditary cerebro-oculo-renal syndromes].

PubMed

Sessa, Galina; Hjortshøj, Tina Duelund; Egfjord, Martin

2014-02-17

Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. The first clinical features of cerebro-oculo-renal diseases usually develop in early childhood and deterioration of kidney function and even end-stage kidney disease may occur in a young age. The syndromes should be considered in patients with retarded growth and development, central nervous system abnormalities, impaired vision or blindness and progressive renal failure.

Expertise under the microscope: processing histopathological slides.

PubMed

Jaarsma, Thomas; Jarodzka, Halszka; Nap, Marius; van Merrienboer, Jeroen J G; Boshuizen, Henny P A

2014-03-01

Although the obvious goal of training in clinical pathology is to bring forth capable diagnosticians, developmental stages and their characteristics are unknown. This study therefore aims to find expertise-related differences in the processing of histopathological slides using a combination of eye tracking data and verbal data. Participants in this study were 13 clinical pathologists (experts), 12 pathology residents (intermediates) and 13 medical students (novices). They diagnosed 10 microscopic images of colon tissue for 2 seconds. Eye movements, the given diagnoses, and the vocabulary used in post hoc verbal explanations were registered. Eye movements were analysed according to changes over trial time and the processing of diagnostically relevant areas. The content analysis of verbal data was based on a categorisation system developed from the literature. Although experts and intermediates showed equal levels of diagnostic accuracy, their visual and cognitive processing differed. Whereas experts relied on their first findings and checked the image further for other abnormalities, intermediates tended to double-check their first findings. In their explanations, experts focused on the typicality of the tissue, whereas intermediates mainly mentioned many specific pathologies. Novices looked less often at the relevant areas and were incomplete, incorrect and inconclusive in their explanations. Their diagnostic accuracy was correspondingly poor. This study indicates that in the case of intermediates and experts, different visual and cognitive strategies can result in equal levels of diagnostic accuracy. Lessons for training underline the relevance of the distinction between normal and abnormal tissue for novices, especially when the mental rotation of 2-D images is required. Intermediates need to be trained to see deviations in abnormalities. Feedback and an educational design that is specific to these developmental stages might improve training. © 2014 John Wiley & Sons Ltd.

Length of day during early gestation as a predictor of risk for severe retinopathy of prematurity.

PubMed

Yang, Michael B; Rao, Sujata; Copenhagen, David R; Lang, Richard A

2013-12-01

Fetal mice require light exposure in utero during early gestation for normal vascular development in the eye. Because angiogenic abnormalities in retinopathy of prematurity (ROP) are manifested in preterm infants, we investigated whether day length during early gestation was associated with severe ROP (SROP). Single-center, retrospective cohort study. We included a total of 343 premature infants (401-1250 g birth weight [BW], from 1998-2002): 684 eyes (1 eye each of 2 patients excluded) with 76 eyes developing SROP, defined as (1) classic threshold ROP in zone I or II, (2) type 1 ROP in zone I, or (3) in a few eyes, type 1 ROP in posterior zone II that was treated. For each infant, average day length (ADL) was calculated during different cumulative time periods and time windows after the estimated date of conception (EDC). Multiple logistic regression analysis (with generalized estimating equations to account for inter-eye correlation) was performed. Association of ADL during early gestation with SROP. In a model evaluating all 684 eyes with 76 eyes developing SROP, BW, gestational age, multiple births, race, per capita income in the mother's residence ZIP code, and ADL during the first 90 days after the EDC were factors associated with the development of SROP. Each additional hour of ADL (90 days) decreased the likelihood of SROP by 28% (P = 0.015; odds ratio [OR], 0.72; 95% confidence interval [CI], 0.55-0.94). In a model evaluating the subset of 146 prethreshold ROP eyes with 76 eyes developing SROP, each additional hour of ADL during the first 105 days after the EDC decreased the likelihood of SROP by 46% (P = 0.001; OR, 0.54; 95% CI, 0.37-0.78). Time windows when ADL was most closely associated with SROP were 31 to 60 days and 61 to 90 days after the EDC for the all eyes and the prethreshold ROP eyes models, respectively. Higher ADL during early gestation was associated with a lower risk for SROP and may imply a role for prophylactic light treatment during early gestation to decrease the risk of SROP. Copyright © 2013 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Effect of Amblyopia Treatment on Macular Thickness in Eyes With Myopic Anisometropic Amblyopia.

PubMed

Pang, Yi; Frantz, Kelly A; Block, Sandra; Goodfellow, Geoffrey W; Allison, Christine

2015-04-01

To determine whether abnormal macular thickness in myopic anisometropic amblyopia differed after amblyopia treatment. Furthermore, to investigate whether effect of treatment on macular thickness was associated with subject age or improvement in stereoacuity. Seventeen children (mean age: 9.0 [±3.0] years, ranging from 5.7-13.9 years) with myopic anisometropic amblyopia (visual acuity [VA] in amblyopic eyes: 20/80-20/400) were recruited and treated with 16-week refractive correction, followed by an additional 16-week refractive correction and patching. Macular thickness, best-corrected VA, and stereoacuity were measured both before and after amblyopia treatment. Factorial repeated-measures analysis of variance was performed to determine whether macular thickness in amblyopic eyes changed after amblyopia treatment. Mean baseline VA in the amblyopic eye was 1.0 ± 0.3 logMAR and improved to 0.7 ± 0.3 after amblyopia treatment (P < 0.0001). The interaction between eye and amblyopia treatment was statistically significant for average foveal thickness (P = 0.040). There was no treatment effect on fellow eyes (P = 0.245); however, the average foveal thickness in the amblyopic eye was significantly reduced after amblyopia treatment (P = 0.049). No statistically significant interactions were found for the other macular thickness parameters (P > 0.05). Abnormal central macula associated with myopic anisometropic amblyopia tended to be thinner following amblyopia treatment with no significant changes in peripheral macular thickness.

Effect of a Hypocretin/Orexin Antagonist on Neurocognitive Performance

DTIC Science & Technology

2015-11-01

somnolence without cataplexy and, in rat, decreases active wake and increases the time spent in non-rapid eye movement (NREM) and (REM) sleep (Brisbare-Roch...system results in a narcoleptic phenotype characterized by excessive sleepiness, fragmented sleep, abnormally timed Rapid- Eye -Movement (REM) sleep, and...spent in non-rapid eye movement (NREM) and (REM) sleep with differential effects on various neurotransmitter systems. To date, no studies have reported

Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndrome.

PubMed

Savige, Judy; Wang, Yanyan; Crawford, Andrew; Smith, James; Symons, Andrew; Mack, Heather; Nicholls, Kathy; Wilson, Diane; Colville, Deb

2017-01-01

The retinal features of Alport syndrome include a central and peripheral fleck retinopathy, temporal retinal thinning, and a macular hole. Here we describe further retinal abnormalities. We identified a case of bull's eye maculopathy 20 years previously in a 68-year-old female, and reviewed archived retinal images from our cohort of X-linked (28 males, 28 females) or autosomal recessive (n = 13) Alport syndrome. All individuals had Alport syndrome confirmed on genetic testing or renal biopsy, were examined by an ophthalmologist, and underwent retinal imaging (KOWA non-mydriatic camera, Japan). The index case had the p.Q379X variant in COL4A5 and currently had renal impairment, (eGFR = 45 ml/min/1.73 m 2 ), bilateral hearing loss, and central and peripheral retinopathies. Her maculopathy had deteriorated, and she had a bilateral central visual field loss. Optical coherence tomography (Heidelberg Spectralis) demonstrated a disrupted retinal pigment epithelium and retinal atrophy. We identified a further early bull's eye maculopathy (1/69, 1.4%) from a female with autosomal recessive disease and normal renal function. We also noted a subtle pigment maculopathy associated with an abnormal retinal pigment epithelium in 27 (27/69, 39%) subjects with Alport syndrome, in both males (8/28, 29%) and females (13/28, 46%) with X-linked disease, and in autosomal recessive disease (6/13, 38%). The bull's eye and pigment maculopathies in Alport syndrome result mainly from the damaged Bruch's membrane and overlying retinal pigment epithelium. Bull's eye maculopathy affects vision and patients should undergo regular monitoring for retinal complications.

[MRI in Duane retraction syndrome: Preliminary results].

PubMed

Denis, D; Cousin, M; Zanin, E; Toesca, E; Girard, N

2011-09-01

Duane retraction syndrome (DRS) is a congenital ocular motility disorder with innervational dysgenesis. MRI improves our understanding of this disease by providing in vivo access to nerves and oculomotor muscles. The goal of this prospective study (2000-2008) was to analyze DRS clinically and neuroradiologically. Twenty-four patients (27 eyes) received a complete ophthalmologic evaluation and a brain-orbital MRI. The average age was 6.1 years. MRI was performed with 3D T2 CISS-weighted images through the brainstem to visualize the cisternal segments of the cranial nerves and the orbit (lateral and medial recti muscles). MRI anomalies were classified according to type I, II, and III and depending on their condition in the posterior fossa (absence, hypoplasia) and in the orbit (muscle anomalies). Of 27 eyes, 70% were type I, 19% type II, and 11% type III. MRI showed abducens nerve abnormalities in 93% of the cases (78% absence) and muscle abnormalities in 57.5% of the cases. A detailed description showed 100% abducens nerve abnormalities and 58% abnormal lateral rectus muscle in type I, 60% abducens nerve abnormalities and 60% abnormal lateral rectus muscle in type II, and 100% abducens nerve abnormalities and 66% abnormal lateral rectus in type III. This study presents two major findings: detection of abducens nerve abnormalities in most cases of DRS whatever the type, associated with muscle abnormalities, and the confirmation that this absence may exist in type II (2/5). Thus MRI proved to be a valuable tool for investigating these patients, improving the comprehension of the physiopathogenics of this disease. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Nestin is essential for zebrafish brain and eye development through control of progenitor cell apoptosis.

PubMed

Chen, Hua-Ling; Yuh, Chiou-Hwa; Wu, Kenneth K

2010-02-19

Nestin is expressed in neural progenitor cells (NPC) of developing brain. Despite its wide use as an NPC marker, the function of nestin in embryo development is unclear. As nestin is conserved in zebrafish and its predicted sequence is clustered with the mammalian nestin orthologue, we used zebrafish as a model to investigate its role in embryogenesis. Injection of nestin morpholino (MO) into fertilized eggs induced time- and dose-dependent brain and eye developmental defects. Nestin morphants exhibited characteristic morphological changes including small head, small eyes and hydrocephalus. Histological examinations show reduced hind- and mid-brain size, dilated ventricle, poorly organized retina and underdeveloped lens. Injection of control nestin MO did not induce brain or eye changes. Nestin MO injection reduced expression of ascl1b (achaete-scute complex-like 1b), a marker of NPCs, without affecting its distribution. Nestin MO did not influence Elavl3/4 (Embryonic lethal, abnormal vision, Drosophila-like 3/4) (a neuronal marker), or otx2 (a midbrain neuronal marker), but severely perturbed cranial motor nerve development and axon distribution. To determine whether the developmental defects are due to excessive NPC apoptosis and/or reduced NPC proliferation, we analyzed apoptosis by TUNEL assay and acridine orange staining and proliferation by BrdU incorporation, pcna and mcm5 expressions. Excessive apoptosis was noted in hindbrain and midbrain cells. Apoptotic signals were colocalized with ascl1b. Proliferation markers were not significantly altered by nestin MO. These results suggest that nestin is essential for zebrafish brain and eye development probably through control of progenitor cell apoptosis.

Macular morphology and visual acuity in the comparison of age-related macular degeneration treatments trials.

PubMed

Jaffe, Glenn J; Martin, Daniel F; Toth, Cynthia A; Daniel, Ebenezer; Maguire, Maureen G; Ying, Gui-Shuang; Grunwald, Juan E; Huang, Jiayan

2013-09-01

To describe the effects of treatment for 1 year with ranibizumab or bevacizumab on macular morphology and the association of macular morphology with visual acuity (VA) in eyes with neovascular age-related macular degeneration (AMD). Prospective cohort study within a randomized clinical trial. Participants in the Comparison of Age-related Macular Degeneration Treatments Trials. Participants were assigned randomly to treatment with ranibizumab or bevacizumab on a monthly or as-needed schedule. Optical coherence tomography (OCT), fluorescein angiography (FA), color fundus photography (FP), and VA testing were performed periodically throughout 52 weeks. Masked readers graded images. General linear models were applied to evaluate effects of time and treatment on outcomes. Fluid type and location and thickness by OCT, size, and lesion composition on FP, FA, and VA. Intraretinal fluid (IRF), subretinal fluid (SRF), subretinal pigment epithelium fluid, and retinal, subretinal, and subretinal tissue complex thickness decreased in all treatment groups. A higher proportion of eyes treated monthly with ranibizumab had fluid resolution at 4 weeks, and the difference persisted through 52 weeks. At 52 weeks, there was little association between the presence of fluid of any type (without regard to fluid location) and the mean VA. However, at all time points, eyes with residual IRF, especially foveal IRF, had worse mean VA (9 letters) than those without IRF. Eyes with abnormally thin (<120 μm) or thick (>212 μm) retinas had worse VA than those with normal thickness (120-212 μm). At week 52, eyes with larger neovascular lesions or with foveal scar had worse VA than eyes without these features. Anti-vascular endothelial growth factor (VEGF) therapy reduced lesion activity and improved VA in all treatment groups. At all time points, eyes with residual IRF had worse VA than those without. Eyes with abnormally thin or thick retinas, residual large lesions, and scar also had worse VA. Monthly ranibizumab dosing yielded more eyes with no fluid and an abnormally thin retina, although the long-term significance is unknown. These results have important treatment implications in eyes undergoing anti-VEGF therapy for neovascular AMD. Proprietary or commercial disclosure may be found after the references. Copyright © 2013 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Causes and anatomical site of blindness and severe visual loss in Isfahan, Islamic Republic of Iran.

PubMed

Dehghan, A; Kianersi, F; Moazam, E; Ghanbari, H

2010-02-01

This study in 2005 evaluated the causes and major anatomical site of blindness and severe visual loss at a school for blind children in Isfahan province, Islamic Republic of Iran. All 211 students were examined according to the modified WHO/PBL eye examination record: 70.4% were blind, 24.3% had severe visual loss and 5.3% were visually impaired. The major causes of abnormality were hereditary factors (42.7%), prenatal/neonatal (18.5%) and unknown etiology (35.5%). The main sites of abnormality were the retina (62.6%), whole globe (17.5%), lens (7.1%) and optic nerve (7.1%). A high proportion of parents were in a consanguineous marriage (49.2%). The pattern of blindness in Isfahan encompasses characteristics of both developed and developing countries.

Looking you in the mouth: abnormal gaze in autism resulting from impaired top-down modulation of visual attention.

PubMed

Neumann, Dirk; Spezio, Michael L; Piven, Joseph; Adolphs, Ralph

2006-12-01

People with autism are impaired in their social behavior, including their eye contact with others, but the processes that underlie this impairment remain elusive. We combined high-resolution eye tracking with computational modeling in a group of 10 high-functioning individuals with autism to address this issue. The group fixated the location of the mouth in facial expressions more than did matched controls, even when the mouth was not shown, even in faces that were inverted and most noticeably at latencies of 200-400 ms. Comparisons with a computational model of visual saliency argue that the abnormal bias for fixating the mouth in autism is not driven by an exaggerated sensitivity to the bottom-up saliency of the features, but rather by an abnormal top-down strategy for allocating visual attention.

ERPs and Eye Movements Reflect Atypical Visual Perception in Pervasive Developmental Disorder

ERIC Educational Resources Information Center

Kemner, Chantal; van Engeland, Herman

2006-01-01

Many studies of eye tracking or event-related brain potentials (ERPs) in subjects with Pervasive Developmental Disorder (PDD) have yielded inconsistent results on attentional processing. However, recent studies have indicated that there are specific abnormalities in early processing that are probably related to perception. ERP amplitudes in…

Electroencephalographic prodromal markers of dementia across conscious states in Parkinson’s disease

PubMed Central

Latreille, Véronique; Gaudet-Fex, Benjamin; Rodrigues-Brazète, Jessica; Panisset, Michel; Chouinard, Sylvain; Postuma, Ronald B.

2016-01-01

Abstract In Parkinson’s disease, electroencephalographic abnormalities during wakefulness and non-rapid eye movement sleep (spindles) were found to be predictive biomarkers of dementia. Because rapid eye movement sleep is regulated by the cholinergic system, which shows early degeneration in Parkinson’s disease with cognitive impairment, anomalies during this sleep stage might mirror dementia development. In this prospective study, we examined baseline electroencephalographic absolute spectral power across three states of consciousness (non-rapid eye movement sleep, rapid eye movement sleep, and wakefulness) in 68 non-demented patients with Parkinson’s disease and 44 healthy controls. All participants underwent baseline polysomnographic recordings and a comprehensive neuropsychological assessment. Power spectral analyses were performed on standard frequency bands. Dominant occipital frequency during wakefulness and ratios of slow-to-fast frequencies during rapid eye movement sleep and wakefulness were also computed. At follow-up (an average 4.5 years after baseline), 18 patients with Parkinson’s disease had developed dementia and 50 patients remained dementia-free. In rapid eye movement sleep, patients with Parkinson’s disease who later developed dementia showed, at baseline, higher absolute power in delta and theta bands and a higher slowing ratio, especially in temporal, parietal, and occipital regions, compared to patients who remained dementia-free and controls. In non-rapid eye movement sleep, lower baseline sigma power in parietal cortical regions also predicted development of dementia. During wakefulness, patients with Parkinson’s disease who later developed dementia showed lower dominant occipital frequency as well as higher delta and slowing ratio compared to patients who remained dementia-free and controls. At baseline, higher slowing ratios in temporo-occipital regions during rapid eye movement sleep were associated with poor performance on visuospatial tests in patients with Parkinson’s disease. Using receiver operating characteristic curves, we found that best predictors of dementia in Parkinson’s disease were rapid eye movement sleep slowing ratios in posterior regions, wakefulness slowing ratios in temporal areas, and lower dominant occipital frequency. These results suggest that electroencephalographic slowing during sleep is a new promising predictive biomarker for Parkinson’s disease dementia, perhaps as a marker of cholinergic denervation. PMID:26912643

Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice

PubMed Central

Wilson, Robert; Geyer, Stefan H.; Reissig, Lukas; Rose, Julia; Szumska, Dorota; Hardman, Emily; Prin, Fabrice; McGuire, Christina; Ramirez-Solis, Ramiro; White, Jacqui; Galli, Antonella; Tudor, Catherine; Tuck, Elizabeth; Mazzeo, Cecilia Icoresi; Smith, James C.; Robertson, Elizabeth; Adams, David J.; Mohun, Timothy; Weninger, Wolfgang J.

2017-01-01

Background: Identifying genes that are essential for mouse embryonic development and survival through term is a powerful and unbiased way to discover possible genetic determinants of human developmental disorders. Characterising the changes in mouse embryos that result from ablation of lethal genes is a necessary first step towards uncovering their role in normal embryonic development and establishing any correlates amongst human congenital abnormalities. Methods: Here we present results gathered to date in the Deciphering the Mechanisms of Developmental Disorders (DMDD) programme, cataloguing the morphological defects identified from comprehensive imaging of 220 homozygous mutant and 114 wild type embryos from 42 lethal and subviable lines, analysed at E14.5. Results: Virtually all mutant embryos show multiple abnormal phenotypes and amongst the 42 lines these affect most organ systems. Within each mutant line, the phenotypes of individual embryos form distinct but overlapping sets. Subcutaneous edema, malformations of the heart or great vessels, abnormalities in forebrain morphology and the musculature of the eyes are all prevalent phenotypes, as is loss or abnormal size of the hypoglossal nerve. Conclusions: Overall, the most striking finding is that no matter how profound the malformation, each phenotype shows highly variable penetrance within a mutant line. These findings have challenging implications for efforts to identify human disease correlates. PMID:27996060

Cardiac autonomic denervation in Parkinson's disease is linked to REM sleep behavior disorder.

PubMed

Postuma, Ronald B; Montplaisir, Jacques; Lanfranchi, Paola; Blais, Hélène; Rompré, Sylvie; Colombo, Roberto; Gagnon, Jean-François

2011-07-01

Recent studies have suggested a close connection between autonomic dysfunction and rapid eye movement sleep behavior disorder, which differs in nature from other early-stage markers of Parkinson's disease. In this study we examined the relationship between rapid eye movement sleep behavior disorder and autonomic dysfunction in Parkinson's disease as measured by cardiac beat-to-beat variability. In 53 patients with Parkinson's disease and 36 controls, electrocardiographic trace from a polysomnogram was assessed for measures of beat-to-beat RR variability including RR-standard deviation and frequency domains (low- and high-frequency components). Results were compared between patients with Parkinson's disease and controls, and between patients with Parkinson's disease with and without rapid eye movement sleep behavior disorder. On numerous cardiac autonomic measures, patients with Parkinson's disease showed clear abnormalities compared with controls. However, these abnormalities were confined only to those patients with associated rapid eye movement sleep behavior; those without were not different than controls. As with other clinical autonomic variables, cardiac autonomic denervation is predominantly associated not with Parkinson's disease itself, but with the presence of rapid eye movement sleep behavior disorder. Copyright © 2011 Movement Disorder Society.

New animal models to study the role of tyrosinase in normal retinal development.

PubMed

Lavado, Alfonso; Montoliu, Lluis

2006-01-01

Albino animals display a hypopigmented phenotype associated with several visual abnormalities, including rod photoreceptor cell deficits, abnormal patterns of connections between the eye and the brain and a general underdevelopment of central retina. Oculocutaneous albinism type I, a common form of albinism, is caused by mutations in the tyrosinase gene. In mice, the albino phenotype can be corrected by functional tyrosinase transgenes. Tyrosinase transgenic animals not only show normal pigmentation but the correction of all visual abnormalities associated with albinism, confirming a role of tyrosinase, a key enzyme in melanin biosynthesis, in normal retinal development. Here, we will discuss recent work carried out with new tyrosinase transgenic mouse models, to further analyse the role of tyrosinase in retinal development. We will first report a transgenic model with inducible tyrosinase expression that has been used to address the regulated activation of this gene and its associated effects on the development of the visual system. Second, we will comment on an interesting yeast artificial chromosome (YAC)-tyrosinase transgene, lacking important regulatory elements, that has highlighted the significance of local interactions between the retinal pigment epithelium (RPE) and developing neural retina.

Automated radial basis function neural network based image classification system for diabetic retinopathy detection in retinal images

NASA Astrophysics Data System (ADS)

Anitha, J.; Vijila, C. Kezi Selva; Hemanth, D. Jude

2010-02-01

Diabetic retinopathy (DR) is a chronic eye disease for which early detection is highly essential to avoid any fatal results. Image processing of retinal images emerge as a feasible tool for this early diagnosis. Digital image processing techniques involve image classification which is a significant technique to detect the abnormality in the eye. Various automated classification systems have been developed in the recent years but most of them lack high classification accuracy. Artificial neural networks are the widely preferred artificial intelligence technique since it yields superior results in terms of classification accuracy. In this work, Radial Basis function (RBF) neural network based bi-level classification system is proposed to differentiate abnormal DR Images and normal retinal images. The results are analyzed in terms of classification accuracy, sensitivity and specificity. A comparative analysis is performed with the results of the probabilistic classifier namely Bayesian classifier to show the superior nature of neural classifier. Experimental results show promising results for the neural classifier in terms of the performance measures.

Presumptive keratoglobus in a great horned owl (Bubo virginianus).

PubMed

Lau, Rachael K; Moresco, Anneke; Woods, Sarah J; Reilly, Christopher M; Hawkins, Michelle G; Murphy, Christopher J; Hollingsworth, Steven R; Hacker, Dennis; Freeman, Kate S

2017-11-01

A juvenile to young adult, male, great horned owl (Bubo virginianus,GHOW) was presented to the wildlife rehabilitation hospital at Lindsay Wildlife Museum (WRHLWM) due to trauma to the right patagium from barbed wire entanglement. On presentation, both corneas were irregular, dry, and no movement of the third eyelid was noted. A severe corneal enlargement/globoid appearance was the predominant ophthalmic feature. The fundus was normal in both eyes (OU). Over the course of several days, both corneas developed edema combined with further dessication at the ocular surface associated with diffuse dorsal fluorescein stain uptake. Repeated ophthalmic examinations found normal intraocular pressures and an inability to move the third eyelid over the enlarged corneas. The bird was deemed nonreleasable due to severe wing damage and poor prognosis associated with eye abnormalities and was humanely euthanized. Postmortem CT, enucleation, and histopathology were performed to evaluate the ocular anatomical abnormality and confirm the suspected diagnosis of keratoglobus. This GHOW represents the first reported case of presumptive keratoglobus in a raptor. © 2016 American College of Veterinary Ophthalmologists.

Non-contact measurement of linear external dimensions of the mouse eye

PubMed Central

Wisard, Jeffrey; Chrenek, Micah A.; Wright, Charles; Dalal, Nupur; Pardue, Machelle T.; Boatright, Jeffrey H.; Nickerson, John M.

2010-01-01

Biometric analyses of quantitative traits in eyes of mice can reveal abnormalities related to refractive or ocular development. Due to the small size of the mouse eye, highly accurate and precise measurements are needed to detect meaningful differences. We sought a non-contact measuring technique to obtain highly accurate and precise linear dimensions of the mouse eye. Laser micrometry was validated with gauge block standards. Simple procedures to measure eye dimensions on three axes were devised. Mouse eyes from C57BL/6J and rd10 on a C57BL/6J background were dissected and extraocular muscle and fat removed. External eye dimensions of axial length (anterior-posterior (A-P) axis) and equatorial diameter (superior-inferior (S-I) and nasal-temporal (N-T) axes) were obtained with a laser micrometer. Several approaches to prevent or ameliorate evaporation due to room air were employed. The resolution of the laser micrometer was less than 0.77 microns, and it provided accurate and precise non-contact measurements of eye dimensions on three axes. External dimensions of the eye strongly correlated with eye weight. The N-T and S-I dimensions of the eye correlated with each other most closely from among the 28 pair-wise combinations of the several parameters that were collected. The equatorial axis measurements correlated well from the right and left eye of each mouse. The A-P measurements did not correlate or correlated poorly in each pair of eyes. The instrument is well suited for the measurement of enucleated eyes and other structures from most commonly used species in experimental vision research and ophthalmology. PMID:20067806

Non-contact measurement of linear external dimensions of the mouse eye.

PubMed

Wisard, Jeffrey; Chrenek, Micah A; Wright, Charles; Dalal, Nupur; Pardue, Machelle T; Boatright, Jeffrey H; Nickerson, John M

2010-03-30

Biometric analyses of quantitative traits in eyes of mice can reveal abnormalities related to refractive or ocular development. Due to the small size of the mouse eye, highly accurate and precise measurements are needed to detect meaningful differences. We sought a non-contact measuring technique to obtain highly accurate and precise linear dimensions of the mouse eye. Laser micrometry was validated with gauge block standards. Simple procedures to measure eye dimensions on three axes were devised. Mouse eyes from C57BL/6J and rd10 on a C57BL/6J background were dissected and extraocular muscle and fat removed. External eye dimensions of axial length (anterior-posterior (A-P) axis) and equatorial diameter (superior-inferior (S-I) and nasal-temporal (N-T) axes) were obtained with a laser micrometer. Several approaches to prevent or ameliorate evaporation due to room air were employed. The resolution of the laser micrometer was less than 0.77 microm, and it provided accurate and precise non-contact measurements of eye dimensions on three axes. External dimensions of the eye strongly correlated with eye weight. The N-T and S-I dimensions of the eye correlated with each other most closely from among the 28 pair-wise combinations of the several parameters that were collected. The equatorial axis measurements correlated well from the right and left eye of each mouse. The A-P measurements did not correlate or correlated poorly in each pair of eyes. The instrument is well suited for the measurement of enucleated eyes and other structures from most commonly used species in experimental vision research and ophthalmology. Copyright (c) 2010 Elsevier B.V. All rights reserved.

The evaluation of eye pain with a normal ocular exam.

PubMed

Lee, Andrew G; Brazis, Paul W

2003-12-01

Eye pain with or without associated head or face pain is a common complaint to the ophthalmologist. The ocular exam may reveal the etiology (e.g., corneal disease, angle closure glaucoma) but typically the exam is normal. This paper reviews the evaluation and management of eye pain with a "normal" ocular exam, including: 1) subtle findings on ocular exam; 2) transient findings on exam, and 3) no abnormal ocular findings. Ophthalmologists should be aware of the various etiologies for eye pain and the specific and distinctive features that make the diagnosis.

Anterior ischemic optic neuropathy in a patient with Churg-Strauss syndrome.

PubMed

Lee, Ji Eun; Lee, Seung Uk; Kim, Soo Young; Jang, Tae Won; Lee, Sang Joon

2012-12-01

We describe a patient with Churg-Strauss syndrome who developed unilateral anterior ischemic optic neuropathy. A 54-year-old man with a history of bronchial asthma, allergic rhinitis, and sinusitis presented with sudden decreased visual acuity in his right eye that had begun 2 weeks previously. The visual acuity of his right eye was 20 / 50. Ophthalmoscopic examination revealed a diffusely swollen right optic disc and splinter hemorrhages at its margin. Goldmann perimetry showed central scotomas in the right eye and fluorescein angiography showed remarkable hyperfluorescence of the right optic nerve head. Marked peripheral eosinphilia, extravascular eosinophils in a bronchial biopsy specimen, and an increased sedimentation rate supported the diagnosis of Churg-Strauss syndrome. Therapy with methylprednisolone corrected the laboratory abnormalities, improved clinical features, and preserved vision, except for the right central visual field defect. Early recognition of this systemic disease by ophthalmologists may help in preventing severe ocular complications.

Anterior Ischemic Optic Neuropathy in a Patient with Churg-Strauss Syndrome

PubMed Central

Lee, Ji Eun; Lee, Seung Uk; Kim, Soo Young; Jang, Tae Won

2012-01-01

We describe a patient with Churg-Strauss syndrome who developed unilateral anterior ischemic optic neuropathy. A 54-year-old man with a history of bronchial asthma, allergic rhinitis, and sinusitis presented with sudden decreased visual acuity in his right eye that had begun 2 weeks previously. The visual acuity of his right eye was 20 / 50. Ophthalmoscopic examination revealed a diffusely swollen right optic disc and splinter hemorrhages at its margin. Goldmann perimetry showed central scotomas in the right eye and fluorescein angiography showed remarkable hyperfluorescence of the right optic nerve head. Marked peripheral eosinphilia, extravascular eosinophils in a bronchial biopsy specimen, and an increased sedimentation rate supported the diagnosis of Churg-Strauss syndrome. Therapy with methylprednisolone corrected the laboratory abnormalities, improved clinical features, and preserved vision, except for the right central visual field defect. Early recognition of this systemic disease by ophthalmologists may help in preventing severe ocular complications. PMID:23204805

Wilms Tumor in a Child With Bilateral Polycystic Kidneys and PHACE Syndrome: Successful Treatment Outcome Using Partial Nephrectomy and Chemotherapy.

PubMed

Thankamony, Priyakumari; Sivarajan, Venugopal; Mony, Rari P; Muraleedharan, Venugopal

2016-01-01

Congenital anomalies may be associated with Wilms tumor either as isolated anomalies or as part of a congenital malformation syndrome. Nephroblastoma occurring in association with polycystic kidneys is very rare. The optimal surgical management of nephroblastoma in the setting of polycystic kidneys is not defined because of the rarity of this presentation. PHACE syndrome includes posterior fossa anomalies, hemangioma, arterial lesions, cardiac abnormalities/coarctation of aorta, and eye abnormalities. We report a 17-month-old baby with bilateral polycystic kidneys and PHACE syndrome who developed nephroblastoma in the right polycystic kidney which was treated successfully with nephron-sparing partial nephrectomy and chemotherapy.

Calcium channel-dependent molecular maturation of photoreceptor synapses.

PubMed

Zabouri, Nawal; Haverkamp, Silke

2013-01-01

Several studies have shown the importance of calcium channels in the development and/or maturation of synapses. The Ca(V)1.4(α(1F)) knockout mouse is a unique model to study the role of calcium channels in photoreceptor synapse formation. It features abnormal ribbon synapses and aberrant cone morphology. We investigated the expression and targeting of several key elements of ribbon synapses and analyzed the cone morphology in the Ca(V)1.4(α(1F)) knockout retina. Our data demonstrate that most abnormalities occur after eye opening. Indeed, scaffolding proteins such as Bassoon and RIM2 are properly targeted at first, but their expression and localization are not maintained in adulthood. This indicates that either calcium or the Ca(V)1.4 channel, or both are necessary for the maintenance of their normal expression and distribution in photoreceptors. Other proteins, such as Veli3 and PSD-95, also display abnormal expression in rods prior to eye opening. Conversely, vesicle related proteins appear normal. Our data demonstrate that the Ca(V)1.4 channel is important for maintaining scaffolding proteins in the ribbon synapse but less vital for proteins related to vesicular release. This study also confirms that in adult retinae, cones show developmental features such as sprouting and synaptogenesis. Overall we present evidence that in the absence of the Ca(V)1.4 channel, photoreceptor synapses remain immature and are unable to stabilize.

Müllerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review.

PubMed

AlSubaihin, Abdulmajeed; VanderMeulen, John; Harris, Kate; Duck, John; McCready, Elizabeth

2018-04-01

Although Müllerian agenesis is the second most common cause of primary amenorrhea the underlying etiology in most cases is unknown. Müllerian agenesis has been reported as a rare finding associated with chromosomal aberrations of the 22q11 chromosomal region including at least 1 individual with cat eye syndrome (CES) and 10 individuals with deletions or duplications of the 22q11.2 region. However, a potential link between 22q11 abnormalities and uterine malformations has been difficult to adequately ascertain because of the limited case reports in the literature. We report a second case of Müllerian agenesis in a girl with CES. A 16-year-old girl presented with bilateral colobomata, primary amenorrhea, and absence of the uterus and upper vagina on pelvic magnetic resonance imaging. Microarray analysis showed tetrasomy of the pericentromeric region of chromosome 22 diagnostic of CES. Müllerian aplasia/hypoplasia might represent a rare feature in CES and should be considered in the investigation of young girls with this syndrome. An increasing number of cases with 22q11 chromosome abnormalities and Müllerian agenesis further highlights the possibility of a gene within the 22q11 region that might mediate normal Müllerian development in girls. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Nucleus prepositus hypoglossi lesions produce a unique ocular motor syndrome

PubMed Central

Kim, Sung-Hee; Zee, David S.; du Lac, Sascha; Kim, Hyo Jung

2016-01-01

Objective: To describe the ocular motor abnormalities in 9 patients with a lesion involving the nucleus prepositus hypoglossi (NPH), a key constituent of a vestibular-cerebellar-brainstem neural network that ensures that the eyes are held steady in all positions of gaze. Methods: We recorded eye movements, including the vestibulo-ocular reflex during head impulses, in patients with vertigo and a lesion involving the NPH. Results: Our patients showed an ipsilesional-beating spontaneous nystagmus, horizontal gaze-evoked nystagmus more intense on looking toward the ipsilesional side, impaired pursuit more to the ipsilesional side, central patterns of head-shaking nystagmus, contralateral eye deviation, and decreased vestibulo-ocular reflex gain during contralesionally directed head impulses. Conclusions: We attribute these findings to an imbalance in the NPH–inferior olive–flocculus–vestibular nucleus loop, and the ocular motor abnormalities provide a new brainstem localization for patients with acute vertigo. PMID:27733568

Paraneoplastic disorders of eye movements

PubMed Central

Wray, Shirley H.; Dalmau, Josep; Chen, Athena; King, Susan; Leigh, R. John

2011-01-01

Paraneoplastic syndromes affecting the brainstem and cerebellum are reported to cause a variety of abnormalities of eye movements. Recent studies have begun to account for the mechanisms underlying several syndromes, characterized by opsoclonus, slow, or dysmetric saccades, as well as downbeat nystagmus. We provide evidence that upbeat nystagmus in a patient with pancreatic cancer reflected a cerebellar-induced imbalance of otolithic pathways: she showed marked retropulsion, and her nystagmus was dependent on head position, being absent when supine, and suppressed with convergence. In addition to anti-Hu antibodies, we demonstrated antibodies to a novel neuronal cell surface antigen. Taken with other recent studies, our findings suggest that paraneoplastic syndromes arise due to antibodies against surface neuronal antigens, including receptors and channels. Abnormal eye movements in paraneoplastic syndromes offer insights into the pathogenesis of these disorders and the opportunity to test potential therapies, such as new drugs with effects on neuronal channels. PMID:21951005

Evaluation of Topical Cyclosporine in Preventing the Development of Corneal Haze after Photorefractive Keratectomy

DTIC Science & Technology

2014-05-13

use of systemic corticosteroids, abnormal ophthalmic examination, and topographic evidence of keratoconus or warpage from contact 4 lenses...Systemic medications were permitted unless they were known to affect the cornea. Soft contact lenses were removed at least thirty days and hard contact ... contact lens was placed at conclusion of the treatment. All eyes received standard postoperative management during the first week including topical

Retinal cell imaging in myopic chickens using adaptive optics multiphoton microscopy.

PubMed

Bueno, Juan M; Palacios, Raquel; Giakoumaki, Anastasia; Gualda, Emilio J; Schaeffel, Frank; Artal, Pablo

2014-03-01

Abnormal eye growth induced by visual deprivation can modify the structure and density of the retinal cells. We have used an adaptive optics multiphoton microscope to image photoreceptors (PRs) and ganglion cells (GCs) at different retinal locations in unstained retinas of chicken eyes with about 10D of myopia and their normal-sighted fellow eyes. In all samples, the local averaged inter-PR distance increased with eccentricity. No significant differences in PR density were found between control and myopic eyes. GC density declined in myopic eyes compared to control eyes and the inter-cell distance increased. In normal eyes, the size of the GC cell bodies increased approximately two-fold between the area centralis and the peripheral retina. In myopic eyes, this trend was preserved but the GC bodies were larger at each retinal location, compared to control eyes. Obviously, GC morphology is changing when the retinal area is enlarged in myopic eyes.

Retinal cell imaging in myopic chickens using adaptive optics multiphoton microscopy

PubMed Central

Bueno, Juan M.; Palacios, Raquel; Giakoumaki, Anastasia; Gualda, Emilio J.; Schaeffel, Frank; Artal, Pablo

2014-01-01

Abnormal eye growth induced by visual deprivation can modify the structure and density of the retinal cells. We have used an adaptive optics multiphoton microscope to image photoreceptors (PRs) and ganglion cells (GCs) at different retinal locations in unstained retinas of chicken eyes with about 10D of myopia and their normal-sighted fellow eyes. In all samples, the local averaged inter-PR distance increased with eccentricity. No significant differences in PR density were found between control and myopic eyes. GC density declined in myopic eyes compared to control eyes and the inter-cell distance increased. In normal eyes, the size of the GC cell bodies increased approximately two-fold between the area centralis and the peripheral retina. In myopic eyes, this trend was preserved but the GC bodies were larger at each retinal location, compared to control eyes. Obviously, GC morphology is changing when the retinal area is enlarged in myopic eyes. PMID:24688804

Dry Eye: an Inflammatory Ocular Disease

PubMed Central

Hessen, Michelle; Akpek, Esen Karamursel

2014-01-01

Keratoconjunctivitis sicca, or dry eye, is a common ocular disease prompting millions of individuals to seek ophthalmological care. Regardless of the underlying etiology, dry eye has been shown to be associated with abnormalities in the pre-corneal tear film and subsequent inflammatory changes in the entire ocular surface including the adnexa, conjunctiva and cornea. Since the recognition of the role of inflammation in dry eye, a number of novel treatments have been investigated designed to inhibit various inflammatory pathways. Current medications that are used, including cyclosporine A, corticosteroids, tacrolimus, tetracycline derivatives and autologous serum, have been effective for management of dry eye and lead to measurable clinical improvement. PMID:25279127

[Associated brachial cleft anomalies in the cat eye syndrome].

PubMed

Avior, Galit; Derowe, Ari; Fliss, Dan M; Leicear-Trejo, Leonor; Braverman, Itzhak

2007-02-01

The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited and represents an inv dup 22 (q11). A two years old female presented to our department with an association of cat eye syndrome with preauricular tags and a first branchial arch anomaly. This article discusses the surgical management and the association between the cat eye syndrome and first branchial cleft anomaly.

Guinea Pig Ciliary Muscle Development

PubMed Central

Pucker, Andrew D.; Carpenter, Ashley R.; McHugh, Kirk M.; Mutti, Donald O.

2014-01-01

Purpose The purpose of this study was to develop a method for quantifying guinea pig ciliary muscle volume (CMV) and to determine its relationship to age and ocular biometric measurements. Methods Six albino guinea pigs eyes were collected at each of five ages (n=30 eyes). Retinoscopy and photography were used to document refractive error, eye size, and eye shape. Serial sections through the excised eyes were made and then labeled with an α-smooth muscle actin antibody. The CM was then visualized with an Olympus BX51 microscope, reconstructed with Stereo Investigator (MBF Bioscience) and analyzed using Neurolucida Explorer (MBF Bioscience). Full (using all sections) and partial (using a subset of sections) reconstruction methods were used to determine CMV. Results There was no significant difference between the full and partial volume determination methods (P = 0.86). The mean CMV of the 1, 10, 20, 30, and 90-day old eyes was 0.40 ± 0.16 mm3, 0.48 ± 0.13 mm3, 0.67 ± 0.15 mm3, 0.86 ± 0.35 mm3, and 1.09 ± 0.63 mm3, respectively. CMV was significantly correlated with log age (P = 0.001), ocular length (P = 0.003), limbal circumference (P = 0.01), and equatorial diameter (P = 0.003). It was not correlated with refractive error (P = 0.73) or eye shape (P = 0.60). Multivariate regression determined that biometric variables were not significantly associated with CMV after adjustment for age. Conclusions Three-dimensional reconstruction was an effective means of determining CMV. These data provide evidence that CM growth occurs with age in tandem with eye size in normal albino guinea pigs. Additional work is needed to determine the relationship between CMV and abnormal ocular growth. PMID:24901488

Role of percent tissue altered on ectasia after LASIK in eyes with suspicious topography.

PubMed

Santhiago, Marcony R; Smadja, David; Wilson, Steven E; Krueger, Ronald R; Monteiro, Mario L R; Randleman, J Bradley

2015-04-01

To investigate the association of the percent tissue altered (PTA) with the occurrence of ectasia after LASIK in eyes with suspicious preoperative corneal topography. This retrospective comparative case-control study compared associations of reported ectasia risk factors in 129 eyes, including 57 eyes with suspicious preoperative Placido-based corneal topography that developed ectasia after LASIK (suspect ectasia group), 32 eyes with suspicious topography that remained stable for at least 3 years after LASIK (suspect control group), and 30 eyes that developed ectasia with bilateral normal topography (normal topography ectasia group). Groups were subdivided based on topographic asymmetry into high- or low-suspect groups. The PTA, preoperative central corneal thickness (CCT), residual stromal bed (RSB), and age (years) were evaluated in univariate and multivariate analyses. Average PTA values for normal topography ectasia (45), low-suspect ectasia (39), high-suspect ectasia (36), low-suspect control (32), and high-suspect control (29) were significantly different from one another in all comparisons (P < .003) except high- and low-suspect ectasia groups (P = .033), and presented the highest discriminative capability of all variables evaluated. Age was only significantly different between the high-suspect ectasia and normal topography ectasia groups, and CCT was not significantly different between any groups. Stepwise logistic regression revealed the PTA as the most significant independent variable (P < .0001), with RSB the next most significant parameter. There remains a significant correlation between PTA values and ectasia risk after LASIK, even in eyes with suspicious corneal topography. Less tissue alteration, or a lower PTA value, was necessary to induce ectasia in eyes with more remarkable signs of topographic abnormality, and PTA provided better discriminative capabilities than RSB for all study populations. Copyright 2015, SLACK Incorporated.

Smooth Pursuit in Schizophrenia: A Meta-Analytic Review of Research since 1993

ERIC Educational Resources Information Center

O'Driscoll, Gillian A.; Callahan, Brandy L.

2008-01-01

Abnormal smooth pursuit eye-tracking is one of the most replicated deficits in the psychophysiological literature in schizophrenia [Levy, D. L., Holzman, P. S., Matthysse, S., & Mendell, N. R. (1993). "Eye tracking dysfunction and schizophrenia: A critical perspective." "Schizophrenia Bulletin, 19", 461-505]. We used meta-analytic procedures to…

Genetics of a sex-linked recessive red eye color mutant of the tarnished plant bug, Lygus lineolaris

USDA-ARS?s Scientific Manuscript database

An inbred colony of the tarnished plant bug, Lygus lineolaris (Palisot de Beauvois) (Miridae: Hemiptera), was observed to contain specimens with abnormal traits including red eyes, deformed antennae, and deformed legs. These specimens were isolated and back crossed to create stable phenotypic strain...

Sturge-Weber syndrome type II treated with PDL 595 nm laser.

PubMed

Kowalska-Brocka, Joanna; Brocki, Maciej; Uczniak, Sebastian; Uczniak, Kamila; Kaszuba, Andrzej; Jurowski, Piotr

2015-02-01

Sturge-Weber syndrome (SWS) is rare congenital disorder presenting facial port-wine stains (PWS) eye abnormalities and cerebrovascular malformations. The frequency of SWS is estimated at 1 in 50 000. Cerebrovascular abnormalities can be responsible for seizures, hemiparesis, mental retardation and ophthalmologic abnormalities cause intraocular pressure, glaucoma. Etiopathogenesis of SWS remains elusive. We present a case of a 7-year-old girl with SWS type II. A port-wine stain involves the upper right part of half face and has been associated with glaucoma of both eyes. In the Department of Dermatology in 2009-2012 we performed 23 procedures within 2 months. We have been using PDL laser at wavelength 595 nm and very good cosmetic results were achieved. Given positive treatment effects, the laser therapy of port-wine stains is a method of selection. Port-wine stains in the course of SWS requires a large number of laser treatment.

Sturge-Weber syndrome type II treated with PDL 595 nm laser

PubMed Central

Brocki, Maciej; Uczniak, Sebastian; Uczniak, Kamila; Kaszuba, Andrzej; Jurowski, Piotr

2015-01-01

Sturge-Weber syndrome (SWS) is rare congenital disorder presenting facial port-wine stains (PWS) eye abnormalities and cerebrovascular malformations. The frequency of SWS is estimated at 1 in 50 000. Cerebrovascular abnormalities can be responsible for seizures, hemiparesis, mental retardation and ophthalmologic abnormalities cause intraocular pressure, glaucoma. Etiopathogenesis of SWS remains elusive. We present a case of a 7-year-old girl with SWS type II. A port-wine stain involves the upper right part of half face and has been associated with glaucoma of both eyes. In the Department of Dermatology in 2009–2012 we performed 23 procedures within 2 months. We have been using PDL laser at wavelength 595 nm and very good cosmetic results were achieved. Given positive treatment effects, the laser therapy of port-wine stains is a method of selection. Port-wine stains in the course of SWS requires a large number of laser treatment. PMID:25821431

Prevalence of dry eye syndrome in an adult population.

PubMed

Hashemi, Hassan; Khabazkhoob, Mehdi; Kheirkhah, Ahmad; Emamian, Mohammad Hassan; Mehravaran, Shiva; Shariati, Mohammad; Fotouhi, Akbar

2014-04-01

To determine the prevalence of dry eye syndrome in the general 40- to 64-year-old population of Shahroud, Iran. Population-based cross-sectional study. Through cluster sampling, 6311 people were selected and 5190 participated. Assessment of dry eye was done in a random subsample of 1008 people. Subjective assessment for dry eye syndrome was performed using Ocular Surface Disease Index questionnaire. In addition, the following objective tests of dry eye syndrome were employed: Schirmer test, tear break-up time, and fluorescein and Rose Bengal staining using the Oxford grading scheme. Those with an Ocular Surface Disease Index score ≥23 were considered symptomatic, and dry eye syndrome was defined as having symptoms and at least one positive objective sign. The prevalence of dry eye syndrome was 8.7% (95% confidence interval 6.9-10.6). Assessment of signs showed an abnormal Schirmer score in 17.8% (95% confidence interval 15.5-20.0), tear break-up time in 34.2% (95% confidence interval 29.5-38.8), corneal fluorescein staining (≥1) in 11.3% (95% confidence interval 8.5-14.1) and Rose Bengal staining (≥3 for cornea and/or conjunctiva) in 4.9% (95% confidence interval 3.4-6.5). According to the Ocular Surface Disease Index scores, 18.3% (95% confidence interval 15.9-20.6) had dry eye syndrome symptoms. The prevalence of dry eye syndrome was significantly higher in women (P = 0.010) and not significantly associated with age (P = 0.291). The objective dry eye syndrome signs significantly increased with age. Based on the findings, the prevalence of dry eye syndrome in the studied population is in the mid-range. The prevalence is higher in women. Also, objective tests tend to turn abnormal at higher age. Pterygium is associated with dry eye syndrome and increased its symptoms. © 2013 Royal Australian and New Zealand College of Ophthalmologists.

[Neuro-ophthalmology: the eye as a window to the brain].

PubMed

Kesler, Anat

2013-02-01

Neuro-ophthalmology focuses on the diagnosis and treatment of visual disorders related to the neurological system rather than the globe itself. Being a subspecialty of both neurology and ophthalmology, it requires specialized training and expertise in diseases of the eye, brain, nerves and muscles. Commonly encountered pathologies in neuro-ophthalmology include: optic neuropathies (such as optic neuritis and ischemic optic neuropathy), visual field loss (transient, constant, unexplained), transient visual loss, unspecified visual disturbances, diplopia, abnormal eye movements, thyroid eye disease, myasthenia gravis, anisocoria, and eyelid abnormalities. The current issue of "Harefuah" is dedicated to contemporary knowledge in neuro-opthalmology, and spans from studies of neuromyelitis optica (NMO), ischemic optic neuropathies, and optic neuropathies induced by phosphodiesterase inhibitors, to the management of sight-threatening carotid-cavernous fistulas, and more. These studies emphasize the importance of an interdisciplinary treatment team consisting of a neuro-ophthalmologist, a neuro-radiologist, and sometimes, even a neuro-surgeon. Such an approach may prove to be beneficial to the patient, by optimizing follow-up and treatment decisions. This issue emphasizes how a correct and timely diagnosis is of paramount significance in patients with neuro-ophthalmological disorders.

Stimulation of pontine reticular formation in monkeys with strabismus.

PubMed

Walton, Mark M G; Ono, Seiji; Mustari, Michael J

2013-10-29

Saccade disconjugacy in strabismus could result from any of a number of factors, including abnormalities of eye muscles, the plant, motoneurons, near response cells, or atypical tuning of neurons in saccade-related areas of the brain. This study was designed to investigate the possibility that saccade disconjugacy in strabismus is associated with abnormalities in paramedian pontine reticular formation (PPRF). We applied microstimulation to 22 sites in PPRF and 20 sites in abducens nucleus in three rhesus macaque monkeys (one normal, one esotrope, and one exotrope). When mean velocity was compared between the two eyes, a slight difference was found for 1/5 sites in the normal animal. Significant differences were found for 5/6 sites in an esotrope and 10/11 sites in an exotrope. For five sites in the strabismic monkeys, the directions of evoked movements differed by more than 40° between the two eyes. When stimulation was applied to abducens nucleus (20 sites), the ipsilateral eye moved faster for 4/6 sites in the normal animal and all nine sites in the esotrope. For the exotrope, however, the left eye always moved faster, even for three sites on the right side. For the strabismic animals, stimulation of abducens nucleus often caused a different eye to move faster than stimulation of PPRF. These data suggest that PPRF is organized at least partly monocularly in strabismus and that disconjugate saccades are at least partly a consequence of unbalanced saccadic commands being sent to the two eyes.

Survey of ophthalmic anterior segment findings and intraocular pressure in 95 North American box turtles (Terrapene spp.).

PubMed

Espinheira Gomes, Filipe; Brandão, João; Sumner, Julia; Kearney, Michael; Freitas, Inês; Johnson, James; Cutler, Daniel; Nevarez, Javier

2016-03-01

To describe the ophthalmic biomicroscopy findings and intraocular pressures (IOP) in a captive population of box turtles and to determine whether a relationship exists between body morphometrics or health status and IOP. Hundred and three box turtles (69 Gulf coast, 24 three-toed, one ornate, one eastern, and eight unidentified) were triaged into three different color-coded groups: green (healthy), yellow (abnormal physical examination with no need for immediate care), and red (immediate care required). Both eyes were evaluated by rebound tonometry and slit-lamp biomicroscopy. Body weight and morphometric data were recorded. Intraocular pressures measurements were available for 190 eyes, slit-lamp biomicroscopy was available for 170 eyes, and morphometric data were available for 81 turtles. IOP in Gulf coast turtles (138 eyes) was 6.7 ± 1.4 mmHg OU. IOP in three-toed turtles (48 eyes) was 8.3 ± 1.5 mmHg OU, which was significantly higher than in Gulf coast turtles (P < 0.0001). No significant IOP differences were noted between genders in both subspecies (P = 0.768). There was a correlation between IOP and health status in three-toed turtles only. There was a mild negative correlation between morphometrics and IOP in Gulf coast and three-toed turtles. Fifteen of 87 turtles had unilateral corneal or lenticular opacities; 3/87 had bilateral corneal or lenticular disease; and 3/87 had adnexal abnormalities. Different subspecies of box turtles have different normal intraocular pressures as measured by rebound tonometry, which was influenced by the animals' health status in one subspecies. Some morphometric parameters were found to be associated with IOP. Box turtles are often affected with ophthalmic abnormalities of unknown clinical significance. © 2015 American College of Veterinary Ophthalmologists.

Pattern Electroretinography and Visual Evoked Potentials Provide Clinical Evidence of CNS Modulation of High- and Low-Contrast VEP Latency in Glaucoma

PubMed Central

Sponsel, William E.; Johnson, Susan L.; Trevino, Rick; Gonzalez, Alberto; Groth, Sylvia L.; Majcher, Carolyn; Fulton, Diane C.; Reilly, Matthew A.

2017-01-01

Purpose Both pattern electroretinography (PERG) and visual evoked potentials (VEP) can be performed using low- (15%; Lc) and high- (85%; Hc) contrast gratings that may preferentially stimulate the magno- and parvocellular pathways. We observed that among glaucomatous patients showing only one VEP latency deficit per eye, there appeared to be a very strong tendency for an Hc delay in one eye and an Lc delay in the other. Methods Diopsys NOVA-LX system was used to measure VEP Hc and Lc latency among a clinical glaucoma population to find all individuals with either a single Hc or Lc latency abnormality in each eye (group 1), or with greater than 0 and less than 4 Hc or Lc VEP latency abnormalities in the two eyes (group 2) to determine whether a significant inverse correlation existed for these values in either group. Hc and Lc PERG data were also evaluated to assess associated retinal ganglion cell responses. Results A strong inverse correlation (P = 0.0000003) was observed between the Hc and Lc VEP latency values among the 64 eyes in group 1. Group 2 provided a comparable result (n = 143; 286 eyes; P = 0.0005). PERG (n = 81; 162 eyes) also showed strong bilateral symmetry for magnitude values (P < 0.0001 for both Lc and Hc in groups 1 and 2). Conclusions Bilateral retention of both low-resolution/high-speed and high-resolution/low-speed function may persist with both eyes open despite symmetrically pathologic retinal ganglion cell PERG waveform asynchrony for Hc and Lc stimuli in the paired eyes. Translational Relevance Clinical electrophysiology strongly suggests binocular compensation for dynamic dysfunction operates under central nervous system (CNS) control in glaucoma. PMID:29134137

Study of the Radial Peripapillary Capillary Network in Congenital Optic Disc Anomalies With Optical Coherence Tomography Angiography.

PubMed

Cennamo, Gilda; Rossi, Claudia; Ruggiero, Pasquale; de Crecchio, Giuseppe; Cennamo, Giovanni

2017-04-01

To evaluate the radial peripapillary capillary network with optical coherence tomography angiography (angio-OCT) in morning glory syndrome (MGS), optic disc colobomas, and optic disc pits, and to explore possible correlations between the neural vascular structure and the pathogenesis of congenital optic disc anomalies. Prospective observational comparative case series. Fifteen eyes of 15 patients with congenital optic disc anomalies were enrolled in this study. All patients underwent angio-OCT. The scans were centered on optic discs. The mean age at presentation was 33 years (range: 19-50 years). Congenital optic disc anomalies were identified in all 15 eyes. Three eyes had the characteristic funduscopic signs of MGS, and angio-OCT scans of the peripapillary retina revealed a dense microvascular network. Optic disc colobomas were found in 5 eyes, and the characteristic funduscopic signs of optic pits were found in 7 eyes. Angio-OCT showed the absence of a radial peripapillary microvascular network in these 12 eyes. The finding that angio-OCT scans confirmed the presence of a peripapillary microvascular network only in MGS cases supports the hypothesis that a primary neuroectodermal abnormality and a secondary mesenchymal abnormality leads to MGS. Angio-OCT is a safe, rapid imaging technique that could shed light on the pathogenesis of rare diseases of the optic disc. Copyright © 2016 Elsevier Inc. All rights reserved.

Decreased cortical activation in response to a motion stimulus in anisometropic amblyopic eyes using functional magnetic resonance imaging.

PubMed

Bonhomme, Gabrielle R; Liu, Grant T; Miki, Atsushi; Francis, Ellie; Dobre, M-C; Modestino, Edward J; Aleman, David O; Haselgrove, John C

2006-12-01

Motion perception abnormalities and extrastriate abnormalities have been suggested in amblyopia. Functional MRI (fMRI) and motion stimuli were used to study whether interocular differences in activation are detectable in motion-sensitive cortical areas in patients with anisometropic amblyopia. We performed fMRI at 1.5 T 4 control subjects (20/20 OU), 1 with monocular suppression (20/25), and 2 with anisometropic amblyopia (20/60, 20/800). Monocular suppression was thought to be form fruste of amblyopia. The experimental stimulus consisted of expanding and contracting concentric rings, whereas the control condition consisted of stationary concentric rings. Activation was determined by contrasting the 2 conditions for each eye. Significant fMRI activation and comparable right and left eye activation was found in V3a and V5 in all control subjects (Average z-values in L vs R contrast 0.42, 0.43) and in the subject with monocular suppression (z = 0.19). The anisometropes exhibited decreased extrastriate activation in their amblyopic eyes compared with the fellow eyes (zs = 2.12, 2.76). Our data suggest motion-sensitive cortical structures may be less active when anisometropic amblyopic eyes are stimulated with moving rings. These results support the hypothesis that extrastriate cortex is affected in anisometropic amblyopia. Although suggestive of a magnocellular defect, the exact mechanism is unclear.

[Roberts-SC phocomelia syndrome].

PubMed

Musfeld, D A; Bühler, E M; Heinzl, S

2001-01-01

The Roberts-SC phocomelia syndrome is a rare autosomal recessive inherited disorder clinically manifested by tetraphocomelia, pre- and postnatal growth retardation, and craniofacial abnormalities (skull, eyes, lip, and palate), accompanied at times by centromer puffing and splitting, renal abnormalities, heart defect, clitoral or penile enlargement, and bilateral corneal opacities. Mental retardation is common in surviving patients.

Clinical use of multifocal visual-evoked potentials in a glaucoma practice: a prospective study

PubMed Central

Liebmann, Jeffrey M.; Ritch, Robert; Hood, Donald C.

2012-01-01

Purpose To test a framework that describes how the multifocal visual-evoked potential (mfVEP) technique is used in a particular glaucoma practice. Methods In this prospective, descriptive study, glaucoma suspects, ocular hypertensives and glaucoma patients were referred for mfVEP testing by a single glaucoma specialist over a 2-year period. All patients underwent standard automated perimetry (SAP) and mfVEP testing within 3 months. Two hundred and ten patients (420 eyes) were referred for mfVEP testing for the following reasons: (1) normal SAP tests suspected of early functional loss (ocular hypertensives, n = 43; and glaucoma suspects on the basis of suspicious optic disks, n = 52); (2) normal-tension glaucoma patients with suspected central SAP defects (n = 33); and (3) SAP abnormalities needing confirmation (n = 82). Results All the glaucoma suspects with normal SAP and mfVEP results remained untreated. Of those with abnormal mfVEP results, 68 % (15/22) were treated because the abnormal regions on the mfVEP were consistent with the abnormal regions seen during clinical examination of the optic disk. The mfVEP was abnormal in 86 % (69/80) of eyes with glaucomatous optic neuropathy and SAP damage, even though it did not result in an altered treatment regimen. In NTG patients, the mfVEP showed central defects in 44 % (12 of 27) of the eyes with apparently normal central fields and confirmed central scotomata in 92 % (36 of 39), leading to more rigorous surveillance of these patients. Conclusions In a clinical practice, the mfVEP was used when clinical examination and subjective visual fields provided insufficient or conflicting information. This information influenced clinical management. PMID:22476612

Clinical use of multifocal visual-evoked potentials in a glaucoma practice: a prospective study.

PubMed

De Moraes, Carlos Gustavo; Liebmann, Jeffrey M; Ritch, Robert; Hood, Donald C

2012-08-01

To test a framework that describes how the multifocal visual-evoked potential (mfVEP) technique is used in a particular glaucoma practice. In this prospective, descriptive study, glaucoma suspects, ocular hypertensives and glaucoma patients were referred for mfVEP testing by a single glaucoma specialist over a 2-year period. All patients underwent standard automated perimetry (SAP) and mfVEP testing within 3 months. Two hundred and ten patients (420 eyes) were referred for mfVEP testing for the following reasons: (1) normal SAP tests suspected of early functional loss (ocular hypertensives, n = 43; and glaucoma suspects on the basis of suspicious optic disks, n = 52); (2) normal-tension glaucoma patients with suspected central SAP defects (n = 33); and (3) SAP abnormalities needing confirmation (n = 82). All the glaucoma suspects with normal SAP and mfVEP results remained untreated. Of those with abnormal mfVEP results, 68 % (15/22) were treated because the abnormal regions on the mfVEP were consistent with the abnormal regions seen during clinical examination of the optic disk. The mfVEP was abnormal in 86 % (69/80) of eyes with glaucomatous optic neuropathy and SAP damage, even though it did not result in an altered treatment regimen. In NTG patients, the mfVEP showed central defects in 44 % (12 of 27) of the eyes with apparently normal central fields and confirmed central scotomata in 92 % (36 of 39), leading to more rigorous surveillance of these patients. In a clinical practice, the mfVEP was used when clinical examination and subjective visual fields provided insufficient or conflicting information. This information influenced clinical management.

Maternal folic acid-deficient diet causes congenital malformations in the mouse eye.

PubMed

Maestro-de-las-Casas, Carmen; Pérez-Miguelsanz, Juliana; López-Gordillo, Yamila; Maldonado, Estela; Partearroyo, Teresa; Varela-Moreiras, Gregorio; Martínez-Álvarez, Concepción

2013-09-01

The eye is a very complex structure derived from the neural tube, surface ectoderm, and migratory mesenchyme from a neural crest origin. Because structures that evolve from the neural tube may be affected by a folate/folic acid (FA) deficiency, the aim of this work was to investigate whether a maternal folic acid-deficient diet may cause developmental alterations in the mouse eye. Female C57BL/6J mice (8 weeks old) were assigned into two different folic acid groups for periods ranging between 2 and 16 weeks. Animals were killed at gestation day 17. Hepatic folate was analyzed, and the eyes from 287 fetuses were macroscopically studied, sectioned and immunolabeled with anti-transforming growth factor (TGF)-β2 and anti-TGF-βRII. Mice exposed to a FA-deficient diet exhibited numerous eye macroscopic anomalies, such as anophthalmia and microphthalmia. Microscopically, the eye was the most affected organ (43.7% of the fetuses). The highest incidence of malformations occurred from the 8th week onward. A statistically significant linear association between the number of maternal weeks on the FA-deficient diet and embryonic microscopic eye malformations was observed. The optic cup derivatives and structures forming the eye anterior segment showed severe abnormalities. In addition, TGF-β2 and TGF-βRII expression in the eye was also altered. This study suggests that an adequate folic acid/folate status plays a key role in the formation of ocular tissues and structures, whereas a vitamin deficiency is negatively associated with a normal eye development even after a short-term exposure. Copyright © 2013 Wiley Periodicals, Inc.

Morphologic analysis of artifacts in human fetal eyes confounding histopathologic investigations.

PubMed

Herwig, Martina C; Müller, Annette M; Holz, Frank G; Loeffler, Karin U

2011-04-25

Human fetal eyes are an excellent source for studies of the normal ocular development and for examining early ocular changes associated with various syndromes in the context of a pediatric pathologic or prenatal sonographic diagnosis. However, artifacts caused by different factors often render an exact interpretation difficult. In this study, the frequency and extent of artifacts in human fetal eyes were investigated with the aim of distinguishing more precisely these artifacts from real findings, allowing also for a more diligent forensic interpretation. The cohort included 341 fetal eyes, ranging in age from 8 to 38 weeks of gestation, that were investigated macroscopically and by light microscopy. In most specimens, artifacts such as pigment spillage and autolytic changes of the retina were noted. Nearly all specimens showed changes of the lens with remarkable similarities to cataractous lenses in adult eyes. Structural ocular changes associated with systemic syndromes were also observed and in most instances could be distinguished from artifacts. Morphologic changes in fetal eyes should be classified in artifacts caused by way of abortion, mechanical effects from the removal of the eyes, delayed fixation with autolysis, and the fixative itself and should be distinguished from genuine structural abnormalities associated with ocular or systemic disease. This classification can be fairly difficult and requires experience. In addition, lens artifacts are often misleading, and the diagnosis of a fetal cataract should not be made based on histopathologic examination alone.

Magnetic resonance imaging study of eye congenital birth defects in mouse model

PubMed Central

Tucker, Zachary; Mongan, Maureen; Meng, Qinghang; Xia, Ying

2017-01-01

Purpose Embryonic eyelid closure is a well-documented morphogenetic episode in mammalian eye development. Detection of eyelid closure defect in humans is a major challenge because eyelid closure and reopen occur entirely in utero. As a consequence, congenital eye defects that are associated with failure of embryonic eyelid closure remain unknown. To fill the gap, we developed a mouse model of defective eyelid closure. This preliminary work demonstrates that the magnetic resonance imaging (MRI) approach can be used for the detection of extraocular muscle abnormalities in the mouse model. Methods Mice with either normal (Map3k1+/−) or defective (Map3k1−/−) embryonic eyelid closure were used in this study. Images of the extraocular muscles were obtained with a 9.4 T high resolution microimaging MRI system. The extraocular muscles were identified, segmented, and measured in each imaging slice using an in-house program. Results In agreement with histological findings, the imaging data show that mice with defective embryonic eyelid closure develop less extraocular muscle than normal mice. In addition, the size of the eyeballs was noticeably reduced in mice with defective embryonic eyelid closure. Conclusions We demonstrated that MRI can potentially be used for the study of extraocular muscle in the mouse model of the eye open-at-birth defect, despite the lack of specificity of muscle group provided by the current imaging resolution. PMID:28848319

Elevated intracranial pressure and reversible eye-tracking changes detected while viewing a film clip.

PubMed

Kolecki, Radek; Dammavalam, Vikalpa; Bin Zahid, Abdullah; Hubbard, Molly; Choudhry, Osamah; Reyes, Marleen; Han, ByoungJun; Wang, Tom; Papas, Paraskevi Vivian; Adem, Aylin; North, Emily; Gilbertson, David T; Kondziolka, Douglas; Huang, Jason H; Huang, Paul P; Samadani, Uzma

2018-03-01

OBJECTIVE The precise threshold differentiating normal and elevated intracranial pressure (ICP) is variable among individuals. In the context of several pathophysiological conditions, elevated ICP leads to abnormalities in global cerebral functioning and impacts the function of cranial nerves (CNs), either or both of which may contribute to ocular dysmotility. The purpose of this study was to assess the impact of elevated ICP on eye-tracking performed while patients were watching a short film clip. METHODS Awake patients requiring placement of an ICP monitor for clinical purposes underwent eye tracking while watching a 220-second continuously playing video moving around the perimeter of a viewing monitor. Pupil position was recorded at 500 Hz and metrics associated with each eye individually and both eyes together were calculated. Linear regression with generalized estimating equations was performed to test the association of eye-tracking metrics with changes in ICP. RESULTS Eye tracking was performed at ICP levels ranging from -3 to 30 mm Hg in 23 patients (12 women, 11 men, mean age 46.8 years) on 55 separate occasions. Eye-tracking measures correlating with CN function linearly decreased with increasing ICP (p < 0.001). Measures for CN VI were most prominently affected. The area under the curve (AUC) for eye-tracking metrics to discriminate between ICP < 12 and ≥ 12 mm Hg was 0.798. To discriminate an ICP < 15 from ≥ 15 mm Hg the AUC was 0.833, and to discriminate ICP < 20 from ≥ 20 mm Hg the AUC was 0.889. CONCLUSIONS Increasingly elevated ICP was associated with increasingly abnormal eye tracking detected while patients were watching a short film clip. These results suggest that eye tracking may be used as a noninvasive, automatable means to quantitate the physiological impact of elevated ICP, which has clinical application for assessment of shunt malfunction, pseudotumor cerebri, concussion, and prevention of second-impact syndrome.

A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163 kb and microduplication of 288 kb at 11p13 and 11q22.3 without aniridia or eye anomalies.

PubMed

Balay, Lara; Totten, Ellen; Okada, Luna; Zell, Sidney; Ticho, Benjamin; Israel, Jeannette; Kogan, Jillene

2016-01-01

Interstitial deletions of 11p13 involving MPPED2, DCDC5, DCDC1, DNAJC24, IMMP1L, and ELP4 are previously reported to have downstream transcriptional effects on the expression of PAX6, due to a downstream regulatory region (DRR). Currently, no clear genotype-phenotype correlations have been established allowing for conclusive information regarding the exact location of the PAX6 DRR, though its location has been approximated in mouse models to be within the Elp4 gene. Of the clinical reports currently published examining patients with intact PAX6 genes but harboring deletions identified in genes downstream of PAX6, 100% indicate phenotypes which include aniridia, whereas approximately half report additional eye deformities, autism, or intellectual disability. In this clinical report, we present a 12-year-old male patient, his brother, and mother with pericentric inversions of chromosome 11 associated with submicroscopic interstitial deletions of 11p13 and duplications of 11q22.3. The inversions were identified by standard cytogenetic analysis; microarray and FISH detected the chromosomal imbalance. The patient's phenotype includes intellectual disability, speech abnormalities, and autistic behaviors, but interestingly neither the patient, his brother, nor mother have aniridia or other eye anomalies. To the best of our knowledge, these findings in three family members represent the only reported cases with 11p13 deletions downstream of PAX6 not demonstrating phenotypic characteristics of aniridia or abnormal eye development. Although none of the deleted genes are obvious candidates for the patient's phenotype, the absence of aniridia in the presence of this deletion in all three family members further delineates the location of the DRR for PAX6. © 2015 Wiley Periodicals, Inc.

Indirect gonioscopy system for imaging iridocorneal angle of eye

NASA Astrophysics Data System (ADS)

Perinchery, Sandeep M.; Fu, Chan Yiu; Baskaran, Mani; Aung, Tin; Murukeshan, V. M.

2017-08-01

Current clinical optical imaging systems do not provide sufficient structural information of trabecular meshwork (TM) in the iridocorneal angle (ICA) of the eye due to their low resolution. Increase in the intraocular pressure (IOP) can occur due to the abnormalities in TM, which could subsequently lead to glaucoma. Here, we present an indirect gonioscopy based imaging probe with significantly improved visualization of structures in the ICA including TM region, compared to the currently available tools. Imaging quality of the developed system was tested in porcine samples. Improved direct high quality visualization of the TM region through this system can be used for Laser trabeculoplasty, which is a primary treatment of glaucoma. This system is expected to be used complementary to angle photography and gonioscopy.

Asymmetric Dichoptic Masking in Visual Cortex of Amblyopic Macaque Monkeys

PubMed Central

Shooner, Christopher; Hallum, Luke E.; García-Marín, Virginia; Kiorpes, Lynne

2017-01-01

In amblyopia, abnormal visual experience leads to an extreme form of eye dominance, in which vision through the nondominant eye is degraded. A key aspect of this disorder is perceptual suppression: the image seen by the stronger eye often dominates during binocular viewing, blocking the image of the weaker eye from reaching awareness. Interocular suppression is the focus of ongoing work aimed at understanding and treating amblyopia, yet its physiological basis remains unknown. We measured binocular interactions in visual cortex of anesthetized amblyopic monkeys (female Macaca nemestrina), using 96-channel “Utah” arrays to record from populations of neurons in V1 and V2. In an experiment reported recently (Hallum et al., 2017), we found that reduced excitatory input from the amblyopic eye (AE) revealed a form of balanced binocular suppression that is unaltered in amblyopia. Here, we report on the modulation of the gain of excitatory signals from the AE by signals from its dominant fellow eye (FE). Using a dichoptic masking technique, we found that AE responses to grating stimuli were attenuated by the presentation of a noise mask to the FE, as in a normal control animal. Responses to FE stimuli, by contrast, could not be masked from the AE. We conclude that a weakened ability of the amblyopic eye to modulate cortical response gain creates an imbalance of suppression that favors the dominant eye. SIGNIFICANCE STATEMENT In amblyopia, vision in one eye is impaired as a result of abnormal early visual experience. Behavioral observations in humans with amblyopia suggest that much of their visual loss is due to active suppression of their amblyopic eye. Here we describe experiments in which we studied binocular interactions in macaques with experimentally induced amblyopia. In normal monkeys, the gain of neuronal response to stimulation of one eye is modulated by contrast in the other eye, but in monkeys with amblyopia the balance of gain modulation is altered so that the weaker, amblyopic eye has little effect while the stronger fellow eye has a strong effect. This asymmetric suppression may be a key component of the perceptual losses in amblyopia. PMID:28760867

Asymmetric Dichoptic Masking in Visual Cortex of Amblyopic Macaque Monkeys.

PubMed

Shooner, Christopher; Hallum, Luke E; Kumbhani, Romesh D; García-Marín, Virginia; Kelly, Jenna G; Majaj, Najib J; Movshon, J Anthony; Kiorpes, Lynne

2017-09-06

In amblyopia, abnormal visual experience leads to an extreme form of eye dominance, in which vision through the nondominant eye is degraded. A key aspect of this disorder is perceptual suppression: the image seen by the stronger eye often dominates during binocular viewing, blocking the image of the weaker eye from reaching awareness. Interocular suppression is the focus of ongoing work aimed at understanding and treating amblyopia, yet its physiological basis remains unknown. We measured binocular interactions in visual cortex of anesthetized amblyopic monkeys (female Macaca nemestrina ), using 96-channel "Utah" arrays to record from populations of neurons in V1 and V2. In an experiment reported recently (Hallum et al., 2017), we found that reduced excitatory input from the amblyopic eye (AE) revealed a form of balanced binocular suppression that is unaltered in amblyopia. Here, we report on the modulation of the gain of excitatory signals from the AE by signals from its dominant fellow eye (FE). Using a dichoptic masking technique, we found that AE responses to grating stimuli were attenuated by the presentation of a noise mask to the FE, as in a normal control animal. Responses to FE stimuli, by contrast, could not be masked from the AE. We conclude that a weakened ability of the amblyopic eye to modulate cortical response gain creates an imbalance of suppression that favors the dominant eye. SIGNIFICANCE STATEMENT In amblyopia, vision in one eye is impaired as a result of abnormal early visual experience. Behavioral observations in humans with amblyopia suggest that much of their visual loss is due to active suppression of their amblyopic eye. Here we describe experiments in which we studied binocular interactions in macaques with experimentally induced amblyopia. In normal monkeys, the gain of neuronal response to stimulation of one eye is modulated by contrast in the other eye, but in monkeys with amblyopia the balance of gain modulation is altered so that the weaker, amblyopic eye has little effect while the stronger fellow eye has a strong effect. This asymmetric suppression may be a key component of the perceptual losses in amblyopia. Copyright © 2017 the authors 0270-6474/17/378734-08$15.00/0.

Visual Processing of Faces in Individuals with Fragile X Syndrome: An Eye Tracking Study

ERIC Educational Resources Information Center

Farzin, Faraz; Rivera, Susan M.; Hessl, David

2009-01-01

Gaze avoidance is a hallmark behavioral feature of fragile X syndrome (FXS), but little is known about whether abnormalities in the visual processing of faces, including disrupted autonomic reactivity, may underlie this behavior. Eye tracking was used to record fixations and pupil diameter while adolescents and young adults with FXS and sex- and…

Vitrectomy and fluid/silicone-oil exchange for giant retinal tears: results at six months.

PubMed Central

Leaver, P. K.; Cooling, R. J.; Feretis, E. B.; Lean, J. S.; McLeod, D.

1984-01-01

The results of vitrectomy combined with fluid/silicone-oil exchange in 73 eyes with giant retinal tears are reported at six months after surgery. Initial anatomical success was achieved in 71 out of 73 eyes (97%) and, prior to removal of silicone-oil, in 66 out of 73 eyes (90%). In 63 eyes (86%) the retina remained attached six months after surgery. Of these visual acuity was 6/60 or better in 44 (70%). The high proportion of eyes with macular detachment before surgery and the frequency of macular abnormalities are thought to account for reduced vision in many of the anatomically successful cases. PMID:6722076

Anterior Segment Optical Coherence Tomography Angiography for Identification of Iris Vasculature and Staging of Iris Neovascularization: A Pilot Study.

PubMed

Roberts, Philipp K; Goldstein, Debra A; Fawzi, Amani A

2017-08-01

Purpose/Aim of the study: To assess the ability of optical coherence tomographic angiography (OCTA) to visualize the normal iris vasculature as well as neovascularization of the iris (NVI). Study participants with healthy eyes, patients at risk of NVI development and patients with active or regressed NVI were consecutively included in this cross-sectional observational study. Imaging was performed using a commercially available OCTA system (RTVue- XR Avanti, Optovue Inc., Fremont, CA, USA). Abnormal iris vessels were graded on OCTA according to a modified clinical staging system and compared to slitlamp and gonioscopic findings. Fifty eyes of 26 study participants (16 healthy eyes, 19 eyes at risk, 15 eyes with different stages of NVI) were imaged using OCTA. In 11 out of 16 healthy eyes (69%) with light or moderately dark iris pigmentation, we observed physiological, radially aligned iris vasculature on OCTA imaging, which could not be visualized in five eyes (31%) with darkly pigmented irides. One eye in the "eyes at risk" group was diagnosed with NVI based on OCTA, which was not observed clinically. Fifteen eyes with clinically active or regressed NVI were imaged. Different stages of NVI could be differentiated by OCTA, corresponding well to an established clinical grading system. Four eyes showed regressed NVI by OCTA, not seen clinically, and were graded as a newly defined stage 4. This pilot clinical study showed that OCTA for imaging of the iris vasculature in health and disease is highly dependent on iris pigmentation. Fine, clinically invisible iris vessels can be visualized by OCTA in the very early stages as well as in the regressed stage of NVI.

Anterior Segment Optical Coherence Tomography Angiography for Identification of Iris Vasculature and Staging of Iris Neovascularization: A Pilot Study

PubMed Central

Roberts, Philipp K.; Goldstein, Debra A.; Fawzi, Amani A.

2017-01-01

Purpose/Aim of the study To assess the ability of optical coherence tomographic angiography (OCTA) to visualize the normal iris vasculature as well as neovascularization of the iris (NVI). Materials and Methods Study participants with healthy eyes, patients at risk of NVI development and patients with active or regressed NVI were consecutively included in this cross-sectional observational study. Imaging was performed using a commercially available OCTA system (RTVue- XR Avanti, Optovue Inc., Fremont, CA, USA). Abnormal iris vessels were graded on OCTA according to a modified clinical staging system and compared to slitlamp and gonioscopic findings. Results Fifty eyes of 26 study participants (16 healthy eyes, 19 eyes at risk, 15 eyes with different stages of NVI) were imaged using OCTA. In 11 out of 16 healthy eyes (69%) with light or moderately dark iris pigmentation, we observed physiological, radially aligned iris vasculature on OCTA imaging, which could not be visualized in five eyes (31%) with darkly pigmented irides. One eye in the “eyes at risk” group was diagnosed with NVI based on OCTA, which was not observed clinically. Fifteen eyes with clinically active or regressed NVI were imaged. Different stages of NVI could be differentiated by OCTA, corresponding well to an established clinical grading system. Four eyes showed regressed NVI by OCTA, not seen clinically, and were graded as a newly defined stage 4. Conclusions This pilot clinical study showed that OCTA for imaging of the iris vasculature in health and disease is highly dependent on iris pigmentation. Fine, clinically invisible iris vessels can be visualized by OCTA in the very early stages as well as in the regressed stage of NVI. PMID:28441067

Retinoic acid is required for specification of the ventral eye field and for Rathke's pouch in the avian embryo.

PubMed

Maden, Malcolm; Blentic, Aida; Reijntjes, Susan; Seguin, Sophie; Gale, Emily; Graham, Anthony

2007-01-01

We have investigated the role of retinoic acid (RA) in eye development using the vitamin A deficient quail model system, which overcomes problems of retinoic acid synthesising enzyme redundancy in the embryo. In the absence of retinoic acid, the ventral optic stalk and ventral retina are missing, whereas the dorsal optic stalk and dorsal retina develop appropriately. Other ocular abnormalities observed were a thinner retina and the lack of differentiation of the lens. In an attempt to explain this, we studied the expression of various dorsally and ventrally expressed genes such as Pax2, Pax6, Tbx6, Vax2, Raldh1 and Raldh3 and noted that they were unchanged in their expression patterns. In contrast, the RA catabolising enzymes Cyp26A1 and Cyp26B1 which are known to be RA-responsive were not expressed at all in the developing eye. At much earlier stages, the expression domain of Shh in the prechordal plate was reduced, as was Nkx2.1 and we suggest a model whereby the eye field is specified according to the concentration of SHH protein that is present. We also describe another organ, Rathke's pouch which fails to develop in the absence of retinoic acid. We attribute this to the down-regulation of Bmp2, Shh and Fgf8 which are known to be involved in the induction of this structure.

Ocular disease in the guinea pig (Cavia porcellus): a survey of 1000 animals.

PubMed

Williams, David; Sullivan, Ann

2010-09-01

Anecdotal evidence has suggested that guinea pigs have a high prevalence of ocular lesions. Here we undertook a survey of 1000 guinea pigs from populations of animals kept as laboratory animals, breeding show cavies, animals kept as pets and those from rescue and rehoming centers. Each animal was examined to assess for ocular abnormalities. A full ophthalmic examination was performed on each animal with direct and indirect ophthalmoscopy and with slit lamp biomicroscopy. Measurement of tear production using the Schirmer tear test 1 and intraocular pressure using the Tonopen applanation tonometer after topical anesthesia was undertaken in selected animals. Forty-five percent of animals examined had some ocular abnormality. The majority were lens lesions including 17% with cataract and 21% with subclinical lens abnormalities such as nuclear sclerosis. Other abnormalities included conjunctivitis in 4.7% and keratitis in 3.6%. Lipid deposition in conjunctiva was observed in 2.3% of guinea pigs and ciliary body heterotopic bone formation in 0.8% of animals. This study shows a high proportion of eyes with some degree of abnormality in animals otherwise considered healthy. Information on diseases of the guinea pig eye is important given the use of the species as a laboratory rodent and also the number kept as pets and show animals.

[Research progress of conscious pain and neurosensory abnormalities in dry eye disease].

PubMed

Lin, X; Liu, Z L; Wu, J L; Liu, Z G

2018-02-11

Dry eye is one of the most common ocular problems in ophthalmology clinic. With the change of social environment and people's life style, the prevalence of dry eye disease is increasing. Currently, the diagnosis criteria for dry eye is controversial, diagnosis of dry eye mainly rely on the comprehensive assessment of symptoms and the presence of associated ocular surface signs. However, previous studies have shown a poor correlation between dry eye symptoms and objective clinical signs in patients. Recent studies have found that neuropathic pain plays an important role in the occurrence of discordance between symptoms and signs in dry eye disease. The purpose of this paper is to present the conception of pain, the distribution and function of sensory nerves in ocular surface, the prevalence and mechanism of neuropathic pain and analgesic treatment in dry eye disease. (Chin J Ophthalmol, 2018, 54: 144-148) .

A Field Test of Web-Based Screening for Dry Eye Disease to Enhance Awareness of Eye Problems Among General Internet Users: A Latent Strategy to Promote Health

PubMed Central

Uchino, Miki; Kawazoe, Takashi; Kamiyashiki, Masaaki; Sano, Kokoro; Tsubota, Kazuo

2013-01-01

Background A Web-based self-check system including a brief questionnaire would seem to be a suitable tool for rapid disease screening. Objective The purpose of this preliminary study was to test a Web-based self-screening questionnaire for drawing attention to dry eye disease among general Internet users and identifying those with a higher risk of developing the condition. Methods A survey website was launched and used to recruit participants from general Internet users. In the first phase, volunteers were asked to complete a Web-based self-screening questionnaire containing 12 questions on dry eye symptoms. The second phase focused on the respondents who reported five or more dry eye symptoms and expressed their intention to seek medical attention. These participants performed the Schirmer test, for evaluating tear production, and completed a paper-based lifestyle questionnaire to provide relevant background data. Results Of the 1689 visitors to the website, 980 (58.0%) volunteers completed the Web-based self-screening questionnaire. Among these, 355 (36.2%) respondents reported five or more dry eye symptoms. Then, 99 (27.9%) of the symptomatic participants performed the Schirmer test and completed the paper-based lifestyle questionnaire. Out of these, 32 (32.2%) had abnormal tear production (≤5 mm). Conclusions The proposed Web-based self-screening questionnaire seems to be a promising tool for raising awareness of dry eye disease among general Internet users and identifying those with a higher risk of developing the condition, although further research is needed to validate its effectiveness. PMID:24072379

Adaptive Neural Mechanism for Listing’s Law Revealed in Patients with Skew Deviation Caused by Brainstem or Cerebellar Lesion

PubMed Central

Fesharaki, Maryam; Karagiannis, Peter; Tweed, Douglas; Sharpe, James A.; Wong, Agnes M. F.

2016-01-01

Purpose Skew deviation is a vertical strabismus caused by damage to the otolithic–ocular reflex pathway and is associated with abnormal ocular torsion. This study was conducted to determine whether patients with skew deviation show the normal pattern of three-dimensional eye control called Listing’s law, which specifies the eye’s torsional angle as a function of its horizontal and vertical position. Methods Ten patients with skew deviation caused by brain stem or cerebellar lesions and nine normal control subjects were studied. Patients with diplopia and neurologic symptoms less than 1 month in duration were designated as acute (n = 4) and those with longer duration were classified as chronic (n = 10). Serial recordings were made in the four patients with acute skew deviation. With the head immobile, subjects made saccades to a target that moved between straight ahead and eight eccentric positions, while wearing search coils. At each target position, fixation was maintained for 3 seconds before the next saccade. From the eye position data, the plane of best fit, referred to as Listing’s plane, was fitted. Violations of Listing’s law were quantified by computing the “thickness” of this plane, defined as the SD of the distances to the plane from the data points. Results Both the hypertropic and hypotropic eyes in patients with acute skew deviation violated Listing’s and Donders’ laws—that is, the eyes did not show one consistent angle of torsion in any given gaze direction, but rather an abnormally wide range of torsional angles. In contrast, each eye in patients with chronic skew deviation obeyed the laws. However, in chronic skew deviation, Listing’s planes in both eyes had abnormal orientations. Conclusions Patients with acute skew deviation violated Listing’s law, whereas those with chronic skew deviation obeyed it, indicating that despite brain lesions, neural adaptation can restore Listing’s law so that the neural linkage between horizontal, vertical, and torsional eye position remains intact. Violation of Listing’s and Donders’ laws during fixation arises primarily from torsional drifts, indicating that patients with acute skew deviation have unstable torsional gaze holding that is independent of their horizontal–vertical eye positions. PMID:18172094

An Evaluation of Educational Neurological Eye Movement Disorder Videos Posted on Internet Video Sharing Sites.

PubMed

Hickman, Simon J

2016-03-01

Internet video sharing sites allow the free dissemination of educational material. This study investigated the quality and educational content of videos of eye movement disorders posted on such sites. Educational neurological eye movement videos were identified by entering the titles of the eye movement abnormality into the search boxes of the video sharing sites. Also, suggested links were followed from each video. The number of views, likes, and dislikes for each video were recorded. The videos were then rated for their picture and sound quality. Their educational value was assessed according to whether the video included a description of the eye movement abnormality, the anatomical location of the lesion (if appropriate), and the underlying diagnosis. Three hundred fifty-four of these videos were found on YouTube and Vimeo. There was a mean of 6,443 views per video (range, 1-195,957). One hundred nineteen (33.6%) had no form of commentary about the eye movement disorder shown apart from the title. Forty-seven (13.3%) contained errors in the title or in the text. Eighty (22.6%) had excellent educational value by describing the eye movement abnormality, the anatomical location of the lesion, and the underlying diagnosis. Of these, 30 also had good picture and sound quality. The videos with excellent educational value had a mean of 9.84 "likes" per video compared with 2.37 for those videos without a commentary (P < 0.001). The videos that combined excellent educational value with good picture and sound quality had a mean of 10.23 "likes" per video (P = 0.004 vs videos with no commentary). There was no significant difference in the mean number of "dislikes" between those videos that had no commentary or which contained errors and those with excellent educational value. There are a large number of eye movement videos freely available on these sites; however, due to the lack of peer review, a significant number have poor educational value due to having no commentary or containing errors. The number of "likes" can help to identify videos with excellent educational value but the number of "dislikes" does not help in discerning which videos have poor educational value.

Toward comprehensive detection of sight threatening retinal disease using a multiscale AM-FM methodology

NASA Astrophysics Data System (ADS)

Agurto, C.; Barriga, S.; Murray, V.; Murillo, S.; Zamora, G.; Bauman, W.; Pattichis, M.; Soliz, P.

2011-03-01

In the United States and most of the western world, the leading causes of vision impairment and blindness are age-related macular degeneration (AMD), diabetic retinopathy (DR), and glaucoma. In the last decade, research in automatic detection of retinal lesions associated with eye diseases has produced several automatic systems for detection and screening of AMD, DR, and glaucoma. However. advanced, sight-threatening stages of DR and AMD can present with lesions not commonly addressed by current approaches to automatic screening. In this paper we present an automatic eye screening system based on multiscale Amplitude Modulation-Frequency Modulation (AM-FM) decompositions that addresses not only the early stages, but also advanced stages of retinal and optic nerve disease. Ten different experiments were performed in which abnormal features such as neovascularization, drusen, exudates, pigmentation abnormalities, geographic atrophy (GA), and glaucoma were classified. The algorithm achieved an accuracy detection range of [0.77 to 0.98] area under the ROC curve for a set of 810 images. When set to a specificity value of 0.60, the sensitivity of the algorithm to the detection of abnormal features ranged between 0.88 and 1.00. Our system demonstrates that, given an appropriate training set, it is possible to use a unique algorithm to detect a broad range of eye diseases.

Adaptive optics imaging of healthy and abnormal regions of retinal nerve fiber bundles of patients with glaucoma.

PubMed

Chen, Monica F; Chui, Toco Y P; Alhadeff, Paula; Rosen, Richard B; Ritch, Robert; Dubra, Alfredo; Hood, Donald C

2015-01-08

To better understand the nature of glaucomatous damage of the macula, especially the structural changes seen between relatively healthy and clearly abnormal (AB) retinal regions, using an adaptive optics scanning light ophthalmoscope (AO-SLO). Adaptive optics SLO images and optical coherence tomography (OCT) vertical line scans were obtained on one eye of seven glaucoma patients, with relatively deep local arcuate defects on the 10-2 visual field test in one (six eyes) or both hemifields (one eye). Based on the OCT images, the retinal nerve fiber (RNF) layer was divided into two regions: (1) within normal limits (WNL), relative RNF layer thickness within mean control values ±2 SD; and (2) AB, relative thickness less than -2 SD value. As seen on AO-SLO, the pattern of AB RNF bundles near the border of the WNL and AB regions differed across eyes. There were normal-appearing bundles in the WNL region of all eyes and AB-appearing bundles near the border with the AB region. This region with AB bundles ranged in extent from a few bundles to the entire AB region in the case of one eye. All other eyes had a large AB region without bundles. However, in two of these eyes, a few bundles were seen within this region of otherwise missing bundles. The AO-SLO images revealed details of glaucomatous damage that are difficult, if not impossible, to see with current OCT technology. Adaptive optics SLO may prove useful in following progression in clinical trials, or in disease management, if AO-SLO becomes widely available and easy to use. Copyright 2015 The Association for Research in Vision and Ophthalmology, Inc.

Enhanced neural function in highly aberrated eyes following perceptual learning with adaptive optics.

PubMed

Sabesan, Ramkumar; Barbot, Antoine; Yoon, Geunyoung

2017-03-01

Highly aberrated keratoconic (KC) eyes do not elicit the expected visual advantage from customized optical corrections. This is attributed to the neural insensitivity arising from chronic visual experience with poor retinal image quality, dominated by low spatial frequencies. The goal of this study was to investigate if targeted perceptual learning with adaptive optics (AO) can stimulate neural plasticity in these highly aberrated eyes. The worse eye of 2 KC subjects was trained in a contrast threshold test under AO correction. Prior to training, tumbling 'E' visual acuity and contrast sensitivity at 4, 8, 12, 16, 20, 24 and 28 c/deg were measured in both the trained and untrained eyes of each subject with their routine prescription and with AO correction for a 6mm pupil. The high spatial frequency requiring 50% contrast for detection with AO correction was picked as the training frequency. Subjects were required to train on a contrast detection test with AO correction for 1h for 5 consecutive days. During each training session, threshold contrast measurement at the training frequency with AO was conducted. Pre-training measures were repeated after the 5 training sessions in both eyes (i.e., post-training). After training, contrast sensitivity under AO correction improved on average across spatial frequency by a factor of 1.91 (range: 1.77-2.04) and 1.75 (1.22-2.34) for the two subjects. This improvement in contrast sensitivity transferred to visual acuity with the two subjects improving by 1.5 and 1.3 lines respectively with AO following training. One of the two subjects denoted an interocular transfer of training and an improvement in performance with their routine prescription post-training. This training-induced visual benefit demonstrates the potential of AO as a tool for neural rehabilitation in patients with abnormal corneas. Moreover, it reveals a sufficient degree of neural plasticity in normally developed adults who have a long history of abnormal visual experience due to optical imperfections. Copyright © 2016 Elsevier Ltd. All rights reserved.

Meis2 is essential for cranial and cardiac neural crest development.

PubMed

Machon, Ondrej; Masek, Jan; Machonova, Olga; Krauss, Stefan; Kozmik, Zbynek

2015-11-06

TALE-class homeodomain transcription factors Meis and Pbx play important roles in formation of the embryonic brain, eye, heart, cartilage or hematopoiesis. Loss-of-function studies of Pbx1, 2 and 3 and Meis1 documented specific functions in embryogenesis, however, functional studies of Meis2 in mouse are still missing. We have generated a conditional allele of Meis2 in mice and shown that systemic inactivation of the Meis2 gene results in lethality by the embryonic day 14 that is accompanied with hemorrhaging. We show that neural crest cells express Meis2 and Meis2-defficient embryos display defects in tissues that are derived from the neural crest, such as an abnormal heart outflow tract with the persistent truncus arteriosus and abnormal cranial nerves. The importance of Meis2 for neural crest cells is further confirmed by means of conditional inactivation of Meis2 using crest-specific AP2α-IRES-Cre mouse. Conditional mutants display perturbed development of the craniofacial skeleton with severe anomalies in cranial bones and cartilages, heart and cranial nerve abnormalities. Meis2-null mice are embryonic lethal. Our results reveal a critical role of Meis2 during cranial and cardiac neural crest cells development in mouse.

Abnormal Resting-State Quantitative Electroencephalogram in Children With Central Auditory Processing Disorder: A Pilot Study

PubMed Central

Milner, Rafał; Lewandowska, Monika; Ganc, Małgorzata; Włodarczyk, Elżbieta; Grudzień, Diana; Skarżyński, Henryk

2018-01-01

In this study, we showed an abnormal resting-state quantitative electroencephalogram (QEEG) pattern in children with central auditory processing disorder (CAPD). Twenty-seven children (16 male, 11 female; mean age = 10.7 years) with CAPD and no symptoms of other developmental disorders, as well as 23 age- and sex-matched, typically developing children (TDC, 11 male, 13 female; mean age = 11.8 years) underwent examination of central auditory processes (CAPs) and QEEG evaluation consisting of two randomly presented blocks of “Eyes Open” (EO) or “Eyes Closed” (EC) recordings. Significant correlations between individual frequency band powers and CAP tests performance were found. The QEEG studies revealed that in CAPD relative to TDC there was no effect of decreased delta absolute power (1.5–4 Hz) in EO compared to the EC condition. Furthermore, children with CAPD showed increased theta power (4–8 Hz) in the frontal area, a tendency toward elevated theta power in EO block, and reduced low-frequency beta power (12–15 Hz) in the bilateral occipital and the left temporo-occipital regions for both EO and EC conditions. Decreased middle-frequency beta power (15–18 Hz) in children with CAPD was observed only in the EC block. The findings of the present study suggest that QEEG could be an adequate tool to discriminate children with CAPD from normally developing children. Correlation analysis shows relationship between the individual EEG resting frequency bands and the CAPs. Increased power of slow waves and decreased power of fast rhythms could indicate abnormal functioning (hypoarousal of the cortex and/or an immaturity) of brain areas not specialized in auditory information processing.

Why is it necessary to examine retina when the patient suffers from aplastic anemia?

PubMed

Tomcikova, D; Gerinec, A; Busanyova, B; Gresikova, M; Biskup, S; Hortnagel, K

2018-01-01

To inform about a case of Revesz syndrome (RS) with initial ophthalmological symptomatology of severe proliferative vitreoretinopathy of the left eye (LE). After the aplastic anemia had developed, RS was established. The exudative retinopathy was successfully treated with photocoagulation on the right eye (RE). RS is characterized by fatal bone marrow failure, exudative retinopathy, neuroradiographic abnormalities, neurodevelopmental delay and skin abnormalities. Non-treated exudative retinopathy leads to blindness. We report ophthalmological findings as follows: fundus photography and fluorescein angiography (FA) acquired by examinations under general anesthesia in patient with RS. Results of genetic tests helped to establish the diagnosis. Two‑year old Caucasian male was examined due to total retinal detachment on LE and signs of chorioretinal scarring on RE. In preoperative screening, thrombocytopenia was detected; later, severe pancytopenia developed. Considering the hematological findings and clinical appearance, we suspected RS, which was confirmed by genetic tests. We found a pathogenic mutation in gene TINF2 (variant c.865C>T;p.Pro289Ser) in a mosaic state with autosomal dominant mode of inheritance. This mutation has not been described in RS yet. Blind LE was enucleated because of dolorous neovascular glaucoma. FA of RE shows excessive areas of capillary nonperfusion with vascular abnormalities and exudation. After the photocoagulation, the visual acuity (VA) on RE remains 0.9 at the age of 7 years. RS is an extremely rare condition.  The initial symptomatology could be ophthalmological or hematological. The positive finding of TINF2 gene mutation helped in establishing the correct diagnosis. The ischemic retinopathy was successfully treated by photocoagulation (Fig. 6, Ref. 6). Text in PDF www.elis.sk.

Evaluation of focal choroidal excavation in the macula using swept-source optical coherence tomography.

PubMed

Lim, F P M; Loh, B K; Cheung, C M G; Lim, L S; Chan, C M; Wong, D W K

2014-09-01

To evaluate imaging findings of patients with focal choroidal excavation (FCE) in the macula using swept-source optical coherence tomography (SS-OCT) and correlate it clinically. Prospective observational case series. Eleven consecutive patients (12 eyes) with FCE were described. Data on demographics and clinical presentation were collected and imaging findings (including color photography, fundus autofluorescence imaging, fluorescein angiography, indocyanine green angiography, spectral-domain optical coherence tomography, and SS-OCT) were analyzed. The primary diagnosis was epiretinal membrane (two eyes), choroidal neovascularization (one eye), polypoidal choroidal vasculopathy (three eyes), central serous chorioretinopathy (one eye), and dry age-related macular degeneration (two eyes). Eleven out of 12 of the lesions were conforming. One presented with a non-conforming lesion that progressed to a conforming lesion. One eye had multiFCE and two had two overlapping choroidal excavations. Using the SS-OCT, we found the choroid to be thinned out at the area of FCE but sclera remained normal. The choroidal tissue beneath the FCE was abnormal, with high internal reflectivity and poor visualization of choroidal vessels. There was loss of contour of the outer choroidal boundary that appeared to be pulled inward by this abnormal choroidal tissue. A suprachoroidal space was noted beneath this choroidal tissue and the choroidal-scleral interface was smooth. Repeat SS-OCT 6 months after presentation showed the area of excavation to be stable in size. FCE can be associated with epiretinal membrane, central serous chorioretinopathy, and age-related macular degeneration. The choroid was thinned out in the area of FCE.

Evaluation of focal choroidal excavation in the macula using swept-source optical coherence tomography

PubMed Central

Lim, F P M; Loh, B K; Cheung, C M G; Lim, L S; Chan, C M; Wong, D W K

2014-01-01

Purpose To evaluate imaging findings of patients with focal choroidal excavation (FCE) in the macula using swept-source optical coherence tomography (SS-OCT) and correlate it clinically. Methods Prospective observational case series. Eleven consecutive patients (12 eyes) with FCE were described. Data on demographics and clinical presentation were collected and imaging findings (including color photography, fundus autofluorescence imaging, fluorescein angiography, indocyanine green angiography, spectral-domain optical coherence tomography, and SS-OCT) were analyzed. Results The primary diagnosis was epiretinal membrane (two eyes), choroidal neovascularization (one eye), polypoidal choroidal vasculopathy (three eyes), central serous chorioretinopathy (one eye), and dry age-related macular degeneration (two eyes). Eleven out of 12 of the lesions were conforming. One presented with a non-conforming lesion that progressed to a conforming lesion. One eye had multiFCE and two had two overlapping choroidal excavations. Using the SS-OCT, we found the choroid to be thinned out at the area of FCE but sclera remained normal. The choroidal tissue beneath the FCE was abnormal, with high internal reflectivity and poor visualization of choroidal vessels. There was loss of contour of the outer choroidal boundary that appeared to be pulled inward by this abnormal choroidal tissue. A suprachoroidal space was noted beneath this choroidal tissue and the choroidal–scleral interface was smooth. Repeat SS-OCT 6 months after presentation showed the area of excavation to be stable in size. Conclusion FCE can be associated with epiretinal membrane, central serous chorioretinopathy, and age-related macular degeneration. The choroid was thinned out in the area of FCE. PMID:24946847

The role of visual evoked potential and electroretinography in the preoperative assessment of osteo-keratoprosthesis or osteo-odonto-keratoprosthesis surgery.

PubMed

de Araujo, Aline L; Charoenrook, Victor; de la Paz, Maria F; Temprano, Jose; Barraquer, Rafael I; Michael, Ralph

2012-09-01

To determine the value of electroretinography (ERG) and visual evoked potential (VEP) in predicting visual outcome in patients undergoing osteo-keratoprosthesis (OKP) or osteo-odonto-keratoprosthesis (OOKP) surgery. We performed a retrospective cohort study of 143 eyes in 101 patients who underwent OKP or OOKP surgery. The subjects underwent ERG, VEP testing or both up to 6 months prior to surgery. The ERG and VEP results were classified into four categories based on wave amplitude, latency and configuration. The main outcome was the maximum best-corrected visual acuity (maxBCVA) reached at any time postoperatively. One hundred thirty-four cases had undergone preoperative ERG, 82 VEP and 73 both examinations. The sensitivities of ERG and VEP to detect maxBCVA≥0.05 were 68.5% and 87%, respectively, while the specificity was 63.2% for ERG and 47.4% for VEP. The maxBCVA was significantly better in patients with normal ERG (p=0.033) and those with normal VEP (p=0.048), once having defined appropriate normal and abnormal cut-off levels. When comparing fellow eyes in patients who underwent surgery in both eyes, maxBCVA was better in the eyes that had better VEP results (p=0.013). Eyes demonstrating normal ERG or VEP achieved better visual outcome than those with abnormal results. In addition, VEP proved instrumental in determining the eye with the best prognosis when comparing both eyes of a given patient. © 2011 The Authors. Acta Ophthalmologica © 2011 Acta Ophthalmologica Scandinavica Foundation.

Drosophila Protein Kinase CK2: Genetics, Regulatory Complexity and Emerging Roles during Development

PubMed Central

Bandyopadhyay, Mohna; Arbet, Scott; Bishop, Clifton P.; Bidwai, Ashok P.

2016-01-01

CK2 is a Ser/Thr protein kinase that is highly conserved amongst all eukaryotes. It is a well-known oncogenic kinase that regulates vital cell autonomous functions and animal development. Genetic studies in the fruit fly Drosophila are providing unique insights into the roles of CK2 in cell signaling, embryogenesis, organogenesis, neurogenesis, and the circadian clock, and are revealing hitherto unknown complexities in CK2 functions and regulation. Here, we review Drosophila CK2 with respect to its structure, subunit diversity, potential mechanisms of regulation, developmental abnormalities linked to mutations in the gene encoding CK2 subunits, and emerging roles in multiple aspects of eye development. We examine the Drosophila CK2 “interaction map” and the eye-specific “transcriptome” databases, which raise the prospect that this protein kinase has many additional targets in the developing eye. We discuss the possibility that CK2 functions during early retinal neurogenesis in Drosophila and mammals bear greater similarity than has been recognized, and that this conservation may extend to other developmental programs. Together, these studies underscore the immense power of the Drosophila model organism to provide new insights and avenues to further investigate developmentally relevant targets of this protein kinase. PMID:28036067

Eye Movement Indices in the Study of Depressive Disorder

PubMed Central

LI, Yu; XU, Yangyang; XIA, Mengqing; ZHANG, Tianhong; WANG, Junjie; LIU, Xu; HE, Yongguang; WANG, Jijun

2016-01-01

Background Impaired cognition is one of the most common core symptoms of depressive disorder. Eye movement testing mainly reflects patients’ cognitive functions, such as cognition, memory, attention, recognition, and recall. This type of testing has great potential to improve theories related to cognitive functioning in depressive episodes as well as potential in its clinical application. Aims This study investigated whether eye movement indices of patients with unmedicated depressive disorder were abnormal or not, as well as the relationship between these indices and mental symptoms. Methods Sixty patients with depressive disorder and sixty healthy controls (who were matched by gender, age and years of education) were recruited, and completed eye movement tests including three tasks: fixation task, saccade task and free-view task. The EyeLink desktop eye tracking system was employed to collect eye movement information, and analyze the eye movement indices of the three tasks between the two groups. Results (1) In the fixation task, compared to healthy controls, patients with depressive disorder showed more fixations, shorter fixation durations, more saccades and longer saccadic lengths; (2) In the saccade task, patients with depressive disorder showed longer anti-saccade latencies and smaller anti-saccade peak velocities; (3) In the free-view task, patients with depressive disorder showed fewer saccades and longer mean fixation durations; (4) Correlation analysis showed that there was a negative correlation between the pro-saccade amplitude and anxiety symptoms, and a positive correlation between the anti-saccade latency and anxiety symptoms. The depression symptoms were negatively correlated with fixation times, saccades, and saccadic paths respectively in the free-view task; while the mean fixation duration and depression symptoms showed a positive correlation. Conclusion Compared to healthy controls, patients with depressive disorder showed significantly abnormal eye movement indices. In addition patients’ anxiety and depression symptoms and eye movement indices were correlated. The pathological meaning of these phenomena deserve further exploration. PMID:28638208

Eye Movement Indices in the Study of Depressive Disorder.

PubMed

Li, Yu; Xu, Yangyang; Xia, Mengqing; Zhang, Tianhong; Wang, Junjie; Liu, Xu; He, Yongguang; Wang, Jijun

2016-12-25

Impaired cognition is one of the most common core symptoms of depressive disorder. Eye movement testing mainly reflects patients' cognitive functions, such as cognition, memory, attention, recognition, and recall. This type of testing has great potential to improve theories related to cognitive functioning in depressive episodes as well as potential in its clinical application. This study investigated whether eye movement indices of patients with unmedicated depressive disorder were abnormal or not, as well as the relationship between these indices and mental symptoms. Sixty patients with depressive disorder and sixty healthy controls (who were matched by gender, age and years of education) were recruited, and completed eye movement tests including three tasks: fixation task, saccade task and free-view task. The EyeLink desktop eye tracking system was employed to collect eye movement information, and analyze the eye movement indices of the three tasks between the two groups. (1) In the fixation task, compared to healthy controls, patients with depressive disorder showed more fixations, shorter fixation durations, more saccades and longer saccadic lengths; (2) In the saccade task, patients with depressive disorder showed longer anti-saccade latencies and smaller anti-saccade peak velocities; (3) In the free-view task, patients with depressive disorder showed fewer saccades and longer mean fixation durations; (4) Correlation analysis showed that there was a negative correlation between the pro-saccade amplitude and anxiety symptoms, and a positive correlation between the anti-saccade latency and anxiety symptoms. The depression symptoms were negatively correlated with fixation times, saccades, and saccadic paths respectively in the free-view task; while the mean fixation duration and depression symptoms showed a positive correlation. Compared to healthy controls, patients with depressive disorder showed significantly abnormal eye movement indices. In addition patients' anxiety and depression symptoms and eye movement indices were correlated. The pathological meaning of these phenomena deserve further exploration.

Abnormal spatial frequency channels in esotropic cats.

PubMed

Holopigian, K; Blake, R

1984-01-01

A noise masking paradigm was used to measure spatial tuning for the deviating and nondeviating eyes of two esotropic cats and for one eye of a control cat. With increasing noise contrast, masking grew more slowly for both the deviating and the nondeviating eyes of the esotropic cats than for the control cat; apparently, contrast coding is impaired for both eyes of the esotropic cats. Masking with band-reject filtered noise indicated that detection channels for either eye of the esotropic cats were twice as broadly tuned as those for the control cat. In a subsequent experiment, the spatial tuning characteristics of two human esotropes were found to be normal, indicating a fundamental difference between human esotropia and esotropia induced in cats by the section of an eye muscle.

A low-cost video-oculography system for vestibular function testing.

PubMed

Jihwan Park; Youngsun Kong; Yunyoung Nam

2017-07-01

In order to remain in focus during head movements, vestibular-ocular reflex causes eyes to move in the opposite direction to head movement. Disorders of vestibular system decrease vision, causing abnormal nystagmus and dizziness. To diagnose abnormal nystagmus, various studies have been reported including the use of rotating chair tests and videonystagmography. However, these tests are unsuitable for home use due to their high costs. Thus, a low-cost video-oculography system is necessary to obtain clinical features at home. In this paper, we present a low-cost video-oculography system using an infrared camera and Raspberry Pi board for tracking the pupils and evaluating a vestibular system. Horizontal eye movement is derived from video data obtained from an infrared camera and infrared light-emitting diodes, and the velocity of head rotation is obtained from a gyroscope sensor. Each pupil was extracted using a morphology operation and a contour detection method. Rotatory chair tests were conducted with our developed device. To evaluate our system, gain, asymmetry, and phase were measured and compared with System 2000. The average IQR errors of gain, phase and asymmetry were 0.81, 2.74 and 17.35, respectively. We showed that our system is able to measure clinical features.

Clinical and ocular motor analysis of the infantile nystagmus syndrome in the first 6 months of life.

PubMed

Hertle, R W; Maldanado, V K; Maybodi, M; Yang, D

2002-06-01

The infantile nystagmus syndrome (INS) usually begins in infancy and may or may not be associated with visual sensory system abnormalities. Little is known about its specific waveforms in the first 6 months of life or their relation to the developing visual system. This study identifies the clinical and ocular motility characteristics of the INS and establishes the range of waveforms present in the first 6 months of life. 27 infants with involuntary ocular oscillations typical of INS are included in this analysis. They were evaluated both clinically and with motility recordings. Eye movement analysis was performed off line from computer analysis of digitised data. Variables analysed included age, sex, vision, ocular abnormalities, head position, and null zone, neutral zone characteristics, symmetry, conjugacy, waveforms, frequencies, and foveation times. Ages ranged from 3 to 6.5 months (average 4.9 months). 15 patients (56%) had abnormal vision for age, nine (33%) had strabismus, five (19%) had an anomalous head posture, 13 (48%) had oculographic null and neutral positions, nine (33%) had binocular asymmetry, and only two showed consistent dysconjugacy. Average binocular frequency was 3.3 Hz, monocular frequency 6.6 Hz. Average foveation periods were longer and more "jerk" wave forms were observed in those patients with normal vision. Common clinical characteristics and eye movement waveforms of INS begin in the first few months of infancy and waveform analysis at this time may help with both diagnosis and visual status.

Retinal Adaptation Abnormalities in Primary Open-Angle Glaucoma

PubMed Central

Dul, Mitchell; Ennis, Robert; Radner, Shira; Lee, Barry; Zaidi, Qasim

2015-01-01

Purpose. Dynamic color and brightness adaptation are crucial for visual functioning. The effects of glaucoma on retinal ganglion cells (RGCs) could compromise these functions. We have previously used slow dynamic changes of light at moderate intensities to measure the speed and magnitude of subtractive adaptation in RGCs. We used the same procedure to test if RGC abnormalities cause slower and weaker adaptation for patients with glaucoma when compared to age-similar controls. We assessed adaptation deficits in specific classes of RGCs by testing along the three cardinal color axes that isolate konio, parvo, and magno RGCs. Methods. For one eye each of 10 primary open-angle glaucoma patients and their age-similar controls, we measured the speed and magnitude of adapting to 1/32 Hz color modulations along the three cardinal axes, at central fixation and 8° superior, inferior, nasal, and temporal to fixation. Results. In all 15 comparisons (5 locations × 3 color axes), average adaptation was slower and weaker for glaucoma patients than for controls. Adaptation developed slower at central targets than at 8° eccentricities for controls, but not for patients. Adaptation speed and magnitude differed between affected and control eyes even at retinal locations showing no visual field loss with clinical perimetry. Conclusions. Neural adaptation is weaker in glaucoma patients for all three classes of RGCs. Since adaptation abnormalities are manifested even at retinal locations not exhibiting a visual field loss, this novel form of assessment may offer a functional insight into glaucoma and an early diagnosis tool. PMID:25613950

Paroxysmal eye–head movements in Glut1 deficiency syndrome

PubMed Central

Engelstad, Kristin; Kane, Steven A.; Goldberg, Michael E.; De Vivo, Darryl C.

2017-01-01

Objective: To describe a characteristic paroxysmal eye–head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). Methods: We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients. Results: A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. Episodes started before age 6 months in 15/18 patients (83%), and preceded the onset of seizures in 10/16 patients (63%) who experienced both types of episodes. Eye movement episodes resolved, with or without treatment, by 6 years of age in 7/8 patients with documented long-term course. Episodes were brief (usually <5 minutes). Video analysis revealed that the eye movements were rapid, multidirectional, and often accompanied by a head movement in the same direction. Eye movements were separated by clear intervals of fixation, usually ranging from 200 to 800 ms. The movements were consistent with eye–head gaze saccades. These movements can be distinguished from opsoclonus by the presence of a clear intermovement fixation interval and the association of a same-direction head movement. Conclusions: Paroxysmal eye–head movements, for which we suggest the term aberrant gaze saccades, are an early symptom of Glut1 DS in infancy. Recognition of the episodes will facilitate prompt diagnosis of this treatable neurodevelopmental disorder. PMID:28341645

Risk factors for choroidal neovascularization and geographic atrophy in the complications of age-related macular degeneration prevention trial.

PubMed

2008-09-01

To determine risk factors for choroidal neovascularization (CNV) and of geographic atrophy (GA) in eyes with large drusen. Cohort study within a multicenter, randomized clinical trial of laser treatment for the prevention of vision loss from advanced age-related macular degeneration. One thousand fifty-two participants with 10 or more large drusen (>or=125 microm) and visual acuity of 20/40 or better in each eye. At baseline, participants provided a brief medical history. Trained readers evaluated baseline color photographs for drusen characteristics and pigmentary abnormalities. One eye of each participant was assigned to laser treatment and the contralateral eye was assigned to observation. The Complications of Age-Related Macular Degeneration Prevention Trial (CAPT) Reading Center readers identified CNV and endpoint GA from color photographs and fluorescein angiograms obtained during follow-up visits scheduled for 5 or 6 years. Estimates of relative risks (RRs) and 95% confidence intervals (CIs) were obtained from survival analyses of observed and treated eyes, considered separately and combined. Development of CNV and of endpoint GA. Choroidal neovascularization developed in 141 observed eyes and 141 treated eyes, including 57 patients affected bilaterally. Statistically significant risk factors for CNV in the multivariate model for all eyes were older age (RR, 2.81 [95% CI, 1.33-5.94] for >79 years vs. 50-59 years), cigarette smoking (RR, 1.98 [95% CI, 1.16-3.39] for current vs. never), and focal hyperpigmentation (RR, 1.84 [95% CI, 1.22-2.76] for >or=250 microm vs. none). Among eyes free of GA at baseline, endpoint GA developed in 61 observed eyes and in 58 treated eyes, including 29 patients affected bilaterally. Statistically significant risk factors for GA in the multivariate model for all eyes were older age (RR, 6.39 [95% CI, 1.64-24.9] for >79 years vs. 50-59 years), greater retinal area covered by drusen (RR, 5.10 [95% CI, 2.57-10.1] for >or=25% vs. <10%), retinal pigment epithelium (RPE) depigmentation (RR, 2.64 [95% CI, 1.26-5.53), and focal hyperpigmentation (RR, 10.4 [95% CI, 4.51-24.0] for >or=250 microm vs. none). Among CAPT participants, increased age and focal hyperpigmentation were risk factors for the development of CNV and for GA. Cigarette smoking was significantly associated with CNV only, whereas retinal area covered by drusen and RPE depigmentation were associated significantly with GA only.

Saccadic Eye Movement Task Identifies Cognitive Deficits in Children with Schizophrenia, but Not in Unaffected Child Relatives

ERIC Educational Resources Information Center

Ross, Randal G.; Heinlein, Shari; Zerbe, Gary O.; Radant, Allen

2005-01-01

Background: The delayed oculomotor response (DOR) task requires response inhibition followed by movement of gaze towards a known spatial location without a current stimulus. Abnormalities in response inhibition and in the spatial accuracy of the eye movement are found in individuals with schizophrenia and in many of their relatives, supporting the…

Preferred retinal locus in macular disease: characteristics and clinical implications.

PubMed

Greenstein, Vivienne C; Santos, Rodrigo A V; Tsang, Stephen H; Smith, R Theodore; Barile, Gaetano R; Seiple, William

2008-10-01

To investigate the location and fixation stability of preferred retinal locations (PRLs) in patients with macular disease, and the relationship among areas of abnormal fundus autofluorescence, the PRL and visual sensitivity. Fifteen patients (15 eyes) were studied. Seven had Stargardt disease, 1 bull's eye maculopathy, 5 age-related macular degeneration, 1 Best disease, and 1 pattern dystrophy. All tested eyes had areas of abnormal fundus autofluorescence. The PRL was evaluated with fundus photography and the Nidek microperimeter. Visual field sensitivity was measured with the Nidek microperimeter. Of the 15 eyes, 4 had foveal and 11 had eccentric fixation. Eccentric PRLs were above the atrophic lesion and their stability did not depend on the degree of eccentricity from the fovea. Visual sensitivity was markedly decreased in locations corresponding to hypofluorescent areas. Sensitivity was not decreased in hyperfluorescent areas corresponding to flecks but was decreased if hyperfluorescence was in the form of dense annuli. Eccentric PRLs were in the superior retina in regions of normal fundus autofluorescence. Fixation stability was not correlated with the degree of eccentricity from the fovea. To assess the outcomes of treatment trials it is important to use methods that relate retinal morphology to visual function.

New Perspectives in Amblyopia Therapy on Adults: A Critical Role for the Excitatory/Inhibitory Balance

PubMed Central

Baroncelli, Laura; Maffei, Lamberto; Sale, Alessandro

2011-01-01

Amblyopia is the most common form of impairment of visual function affecting one eye, with a prevalence of about 1–5% of the total world population. This pathology is caused by early abnormal visual experience with a functional imbalance between the two eyes owing to anisometropia, strabismus, or congenital cataract, resulting in a dramatic loss of visual acuity in an apparently healthy eye and various other perceptual abnormalities, including deficits in contrast sensitivity and in stereopsis. It is currently accepted that, due to a lack of sufficient plasticity within the brain, amblyopia is untreatable in adulthood. However, recent results obtained both in clinical trials and in animal models have challenged this traditional view, unmasking a previously unsuspected potential for promoting recovery after the end of the critical period for visual cortex plasticity. These studies point toward the intracortical inhibitory transmission as a crucial brake for therapeutic rehabilitation and recovery from amblyopia in the adult brain. PMID:22144947

Cone dysfunctions in retinitis pigmentosa with retinal nerve fiber layer thickening

PubMed Central

Sobacı, Güngör; Özge, Gökhan; Gündoğan, Fatih Ç

2012-01-01

Purpose To investigate whether or not thicker retinal nerve fiber layer (RNFL) in retinitis pigmentosa (RP) patients relates to functional abnormalities of the photoreceptors. Methods Optical coherence tomography-based RNFL thickness was measured by Stratus-3™ (Zeiss, Basel, Switzerland) optical coherence tomography and electroretinogram (ERG) recordings made using the RETI-port® system (Roland, Wiesbaden, Germany) in 27 patients with retinitis pigmentosa and in 30 healthy subjects. Results Photopic ERG b-wave amplitude, cone ERG b-wave latency, 30 Hz flicker amplitude, and 30 Hz flicker latency had significant correlations to the RNFL-temporal (r = −0.55, P = 0.004, r = 0.68, P = 0.001, r = −0.65, P = 0.001, and r = −0.52, P = 0.007, respectively). Eyes with thicker RNFL (ten eyes) differed significantly from those with thinner RNFL (eight eyes) regarding cone ERG b-wave latency values only (P = 0.001). Conclusion Thicker RNFL in patients with retinitis pigmentosa may be associated with functional abnormality of the cone system. PMID:22536039

Cone dysfunctions in retinitis pigmentosa with retinal nerve fiber layer thickening.

PubMed

Sobacı, Güngör; Ozge, Gökhan; Gündoğan, Fatih Ç

2012-01-01

To investigate whether or not thicker retinal nerve fiber layer (RNFL) in retinitis pigmentosa (RP) patients relates to functional abnormalities of the photoreceptors. Optical coherence tomography-based RNFL thickness was measured by Stratus-3™ (Zeiss, Basel, Switzerland) optical coherence tomography and electroretinogram (ERG) recordings made using the RETI-port(®) system (Roland, Wiesbaden, Germany) in 27 patients with retinitis pigmentosa and in 30 healthy subjects. Photopic ERG b-wave amplitude, cone ERG b-wave latency, 30 Hz flicker amplitude, and 30 Hz flicker latency had significant correlations to the RNFL-temporal (r = -0.55, P = 0.004, r = 0.68, P = 0.001, r = -0.65, P = 0.001, and r = -0.52, P = 0.007, respectively). Eyes with thicker RNFL (ten eyes) differed significantly from those with thinner RNFL (eight eyes) regarding cone ERG b-wave latency values only (P = 0.001). Thicker RNFL in patients with retinitis pigmentosa may be associated with functional abnormality of the cone system.

[Development of a monitor for quantifying personal eye exposure to visible and ultraviolet radiation and its application in epidemiology].

PubMed

Eto, Norihito; Tsubota, Kazuo; Tanaka, Taichiro; Nishiwaki, Yuji

2013-01-01

Eye diseases including cataract, keratitis and pterygium have been reported to be sun-exposure-related. The association between macular degeneration and blue light has also been discussed. Moreover, it is hypothesized that retinal exposure to blue light may influence the human circadian rhythm. However, no monitoring devices exist that can measure eye exposure to visible and ultraviolet (UV) radiation over time. To measure the exact dose at specific times, we have developed a novel sensing system (ray-sensing glass system: RaySeG). RaySeG can continuously measure and record the composition and intensity of light with a time-stamped system. Subjects wearing RaySeG were instructed to walk under various light conditions such as indoor and outdoor. RaySeG consists of two sensors embedded in the eyeglasses. These sensors are for UV (260-400 nm), visible lights (red, 615 nm; green, 540 nm; and blue, 465 nm: peak wavelength for each). The total weight of the system is about 100 g, and the size is comparable to that of a digital audio player. The system continuously recorded changes in visible and UV light exposure under various conditions. After accuracy validation, further experiments with a larger number of subjects are required. Our final goal is to apply the system to evaluating personal eye exposure to UV and visible light in epidemiological studies of eye diseases and circadian rhythm abnormality.

Serious adverse events and visual outcomes of rescue therapy using adjunct bevacizumab to laser and surgery for retinopathy of prematurity. The Indian Twin Cities Retinopathy of Prematurity Screening database Report number 5.

PubMed

Jalali, Subhadra; Balakrishnan, Divya; Zeynalova, Zarifa; Padhi, Tapas Ranjan; Rani, Padmaja Kumari

2013-07-01

To report serious adverse events and long-term outcomes of initial experience with intraocular bevacizumab in retinopathy of prematurity (ROP). Consecutive vascularly active ROP cases treated with bevacizumab, in addition to laser and surgery, were analysed retrospectively from a prospective computerised ROP database. Primary efficacy outcome was regression of new vessels. Secondary outcomes included the anatomic and visual status. Serious systemic and ocular adverse events were documented. 24 ROP eyes in 13 babies, received single intraocular bevacizumab for severe stage 3 plus after failed laser (seven eyes), stage 4A plus (eight eyes), and stage 4B/5 plus (nine eyes). Drug was injected intravitreally in 23 eyes and intracamerally in one eye. New vessels regressed in all eyes. Vision salvage in 14 of 24 eyes and no serious neurodevelopmental abnormalities were noted up to 60 months (mean 30.7 months) follow-up. Complications included macular hole and retinal breaks causing rhegmatogenous retinal detachment (one eye); bilateral, progressive vascular attenuation, perivascular exudation and optic atrophy in one baby, and progression of detachment bilaterally to stage 5 in one baby with missed follow-up. One baby who received intracameral injection developed hepatic dysfunction. One eye of this baby also showed a large choroidal rupture. Though intraocular bevacizumab, along with laser and surgery salvaged vision in many otherwise progressive cases of ROP, vigilance and reporting of serious adverse events is essential for future rationalised use of the drug. We report one systemic and four ocular adverse events that require consideration in future use of the drug.

Selenium teratogenesis in natural populations of aquatic birds in central California

USGS Publications Warehouse

Hoffman, D.J.; Ohlendorf, H.M.; Aldrich, T.W.

1988-01-01

The frequency and types of malformations are described that were encountered during the spring of 1983 in a natural population of aquatic birds exposed to agricultural drainwater ponds and food items containing high concentrations of selenium in central California. A total of 347 nests of aquatic birds containing 1,681 eggs was selected for study at Kesterson Reservoir located in the Kesterson National Wildlife Refuge (NWR), Merced County, California. Embryos collected during incubation or from eggs that failed to hatch were examined to determine the age at death and presence of malformations. Embryonic death was generally high; approximately 17?60% of the nests of different species contained at least one dead embryo. The incidence of malformed embryos was also high; approximately 22?65% of the nests where at least two embryos were examined contained abnormal embryos. American coots (Fulica americana) and black-necked stilts (Himantopus mexicanus) experienced the highest incidence of malformed embryos. For all species, the average percentage of eggs containing dead or live abnormal embryos was 16.1 whereas the average percentage containing live abnormal embryos was 10.7. Multiple gross malformations of the eyes, brain, and feet were often present. Brain defects included hydrocephaly and exencephaly. Eye defects included both unilateral and bilateral anophthalmia and microphthalmia. Eye and foot defects with ectrodactyly and swollen joints were the most common in coots. Beak defects also occurred frequently and most often included incomplete development of the lower beak of ducks (Anas spp.) and stilts. Wing and leg defects were most prevalent in stilts and ducks, with ectromelia and amelia most prevalent in stilts. Other malformations occurring at lower frequencies included enlarged hearts with thin ventricular walls, liver hypopiasia, and gastroschisis. Based upon simultaneous examination of a control population of aquatic birds of the same species and published studies, the incidences of embryonic mortality and deformities were 9?30 times greater than expected. The role of the form of selenium responsible for teratogenesis in laboratory studies is discussed.

Independent and reciprocal accommodation in anisometropic amblyopia

PubMed Central

Horwood, Anna M.; Riddell, Patricia M

2015-01-01

Accommodation is considered to be a symmetrical response, and to be driven by the least ametropic and nonamblyopic eye in anisometropia. We report a case of a 4-year-old child with anisometropic amblyopia who accommodates asymmetrically, reliably demonstrating normal accommodation in the nonamblyopic eye and anti-accommodation of the amblyopic eye to near targets. The abnormal accommodation of the amblyopic eye remained largely unchanged over seven subsequent testing sessions undertaken over the course of therapy. We suggest that a congenital dysinnervation syndrome may result in relaxation of accommodation in relation to near cues and might be a hitherto-unconsidered additional etiologic factor in anisometropic amblyopia. PMID:20863728

Intuitive physics and intuitive psychology ("theory of mind") in offspring of mothers with psychoses.

PubMed

Maróthi, Rebeka; Kéri, Szabolcs

2014-01-01

Offspring of individuals with psychoses sometimes display an abnormal development of cognition, language, motor performance, social adaptation, and emotional functions. The aim of this study was to investigate the ability of children of mothers with schizophrenia (n = 28) and bipolar disorder (n = 23) to understand mental states of others using the Eyes Test (folk psychology or "theory of mind") and physical causal interactions of inanimate objects (folk physics). Compared with healthy controls (n = 29), the children of mothers with schizophrenia displayed significantly impaired performances on the Eyes Test but not on the folk physics test when corrected for IQ. The children of mothers with bipolar disorder did not differ from the controls. The folk physics test showed a significant covariance with IQ, whereas the Eyes Test did not exhibit such covariance. These results suggest that the attribution of mental states, but not the interpretation of causal interaction of objects, is impaired in offspring of individuals with schizophrenia, which may contribute to social dysfunctions.

Eye-closure-triggered paroxysmal activity and cognitive impairment: a case report.

PubMed

Termine, Cristiano; Rubboli, Guido; Veggiotti, Pierangelo

2006-01-01

To study the neuropsychological status of an epileptic patient presenting with epileptic activity triggered by eye closure in a 14-year follow-up period. The patient was studied at 12 and 26 years of age; during this period he underwent periodical clinical evaluations and EEG investigations; brain magnetic resonance imaging (MRI) was performed at 12 years of age. A neuropsychological assessment was carried out both at 12 years of age (T0) and at 26 years of age. At T0 and T1, neuropsychological tests (digits and words span, graphoestesia, reactions time to auditory stimuli, sentences repetition, words repetition, digital gnosis, backward counting [i.e.,100-0]) were performed during video-EEG monitoring either with eyes closed or with eyes open, to evaluate possible transitory effects related to ongoing epileptic activity. Moreover, at T0 the patient underwent Wechsler Intelligence Scale for Children-Revised, and at T1 to Wechsler Adult Intelligence Scale-Revised. EEG recordings showed continuous epileptic activity triggered by eye closure, disappearing only with eyes opening, both at T0 and T1 (in this latter case, anteriorly predominant). The results of neuropsychological assessment during eyes closed as compared to performances with eyes open did not show significant differences, at T0 as well as at T1. Wechsler Intelligence scales showed a deterioration of performances at T1 with respect to T0; in addition, at T1, attention and short-term memory abnormalities, impairment in facial recognition and block design, and defective results in Continuous Performance Test and Wisconsin Card Sorting Test were observed. Lack of differences between the results of neuropsychological tests performed with eyes closed as compared to the eyes open condition suggests that in our patient epileptic activity did not cause transitory cognitive abnormalities. Deterioration of Wechsler Intelligence Scales in the follow-up period might be interpreted as the result of a disruption of cognitive processes possibly related to the persistence of a continuous epileptic activity during eye closure over the years. We speculate whether a dysfunction in posterior cortical areas involved in visual processing might be related to the impairment in face recognition and block design tests as well to eye closure sensitivity.

Ultrawide-field Fluorescein Angiography for Evaluation of Diabetic Retinopathy

PubMed Central

Kong, Mingui; Lee, Mee Yon

2012-01-01

Purpose To investigate the advantages of ultrawide-field fluorescein angiography (FA) over the standard fundus examination in the evaluation of diabetic retinopathy (DR). Methods Ultrawide-field FAs were obtained in 118 eyes of 59 diabetic patients; 11 eyes with no DR, 71 eyes with nonproliferative diabetic retinopathy (NPDR), and 36 eyes with proliferative diabetic retinopathy (PDR), diagnosed by the standard method. The presence of peripheral abnormal lesions beyond the standard seven fields was examined. Results Ultrawide-field FA images demonstrated peripheral microaneurysms in six (54.5%) of 11 eyes with no DR and all eyes with moderate to severe NPDR and PDR. Peripheral retinal neovascularizations were detected in three (4.2%) of 71 eyes with NPDR and in 13 (36.1%) of 36 eyes with PDR. Peripheral vascular nonperfusion and vascular leakage were found in two-thirds of eyes with severe NPDR and PDR. Conclusions Ultrawide-field FA demonstrates peripheral lesions beyond standard fields, which can allow early detection and a close evaluation of DR. PMID:23204797

Color vision abnormality as an initial presentation of the complete type of congenital stationary night blindness.

PubMed

Tan, Xue; Aoki, Aya; Yanagi, Yasuo

2013-01-01

Patients with the complete form of congenital stationary night blindness (CSNB) often have reduced visual acuity, myopia, impaired night vision, and sometimes nystagmus and strabismus, however, they seldom complain of color vision abnormality. A 17-year-old male who was at technical school showed abnormalities in the color perception test for employment, and was referred to our hospital for a detailed examination. He had no family history of color vision deficiency and no other symptoms. During the initial examination, his best-corrected visual acuity was 1.2 in both eyes. His fundus showed no abnormalities except for somewhat yellowish reflex in the fovea of both eyes. Electroretinogram (ERG) showed a good response in cone ERG and 30 Hz flicker ERG, however, the bright flash, mixed rod and cone ERG showed a negative type with a reduced b-wave (positive deflection). There was no response in the rod ERG, either. From the findings of the typical ERG, the patient was diagnosed with complete congenital stationary night blindness. This case underscores the importance of ERG in order to diagnose the cause of a color vision anomaly.

Ocular Findings in Children With 22q11.2 Deletion Syndrome.

PubMed

Gokturk, Bahar; Topcu-Yilmaz, Pinar; Bozkurt, Banu; Yildirim, Mahmut Selman; Guner, Sukru Nail; Sayar, Esra Hazar; Reisli, Ismail

2016-07-01

To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities. Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing. All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus. The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion. [J Pediatr Ophthalmol Strabismus. 2016;53(4):218-222]. Copyright 2016, SLACK Incorporated.

Ophthalmic manifestations in patients with ectodermal dysplasia syndromes.

PubMed

Keklikci, Ugur; Yavuz, Izzet; Tunik, Selcuk; Ulku, Zelal Baskan; Akdeniz, Sedat

2014-01-01

Ectodermal dysplasia (ED) is a disorder that results from abnormal formation of at least two of the four major ectodermal derivatives in the developing embryo. The ectoderm of the embryo forms the skin, teeth, hair and nails, sweat glands and part of the eyes. The aim of this article is to reveal ophthalmologic symptoms and signs as multidisciplinary, reliable criteria for ectodermal dysplasia. In this retrospective study, 24 patients with ED were analyzed from the recorded data. Ophthalmological examination of the patients, who had previously received the diagnosis of ED in the dental department, was done. During the examination, ocular symptoms related to tear film, corneal changes, lacrimal duct, periorbital hyperpigmentation, alteration lashes and eyebrows were evaluated. The age ranged between 3-45, and the mean and standard deviation (Mean ± SD) was 15.8 ± 7.4 years. The number of males was 13 (54.2%) and females, 11 (45.8%). Eighteen patients (75.0%) suffered from ocular complaints related to the ocular surface. In 11 of the patients with ED, there were dry eye symptoms. While the mean age of cases with eye involvement was 17.5, it was 23.1 in cases with dry eye symptoms. In the study, it was observed that, in patients with ED, ocular complaints, particularly dry eye symptoms, may increase as age advances.

Cavernous sinus syndrome in a Holstein bull.

PubMed

Jacob, Sarah I; Drees, Randi; Pinkerton, Marie E; Bentley, Ellison M; Peek, Simon F

2015-03-01

A 13-month-old Holstein bull was presented for right-sided exophthalmos. Ophthalmologic examination noted that the animal was visual in both eyes, but that the right pupil was persistently dilated and very sluggish to constrict when stimulated with a bright light and that normal ocular motility was absent. Fundic examination of the right eye was normal as was a complete ophthalmologic examination of the left eye. Radiographs at presentation did not reveal the presence of sinusitis or other skull abnormalities. Initial treatment comprised intravenous antibiotics and anti-inflammatories for orbital inflammation over a 14-day period. There was no perceptible change in the appearance or neuro-ophthalmologic examination of the right eye during hospitalization. The animal was discharged to the owner's care, but 3 weeks later was found recumbent with unilateral strabismus of the left eye and a fixed right pupil. Due to the inability to rise and rapid deterioration, humane euthanasia was performed, and a full postmortem examination, preceded by a MRI, was performed that identified abscesses extending bilaterally through the round foramina obliterating the cavernous sinus region, as well as abscessation of the right mandible, right trigeminal neuritis, right-sided sinusitis, and right-sided otitis media. Cavernous sinus syndrome should be considered in cattle with a combination of exophthalmos and neuro-ophthalmologic abnormalities involving cranial nerves III, IV, V, and VI, whose branches are located within the cavernous sinus. © 2013 American College of Veterinary Ophthalmologists.

In vivo laser confocal microscopy findings of a cornea with osteogenesis imperfecta.

PubMed

Kobayashi, Akira; Higashide, Tomomi; Yokogawa, Hideaki; Yamazaki, Natsuko; Masaki, Toshinori; Sugiyama, Kazuhisa

2014-01-01

To report the in vivo laser confocal microscopy findings of a cornea with osteogenesis imperfecta (OI) with special attention to the abnormality of Bowman's layer and sub-Bowman's fibrous structures (K-structures). Two patients (67-year-old male and his 26-year-old son) with OI type I were included in this study. Slit lamp biomicroscopic and in vivo laser confocal microscopic examinations were performed for both patients. Central corneal thickness and central endothelial cell density were also measured. Although the corneas looked clear with normal endothelial density for both eyes in both patients, they were quite thin (386 μm oculus dexter (OD) (the right eye) and 384 μm oculus sinister (OS) (the left eye) in the father and 430 μm OD and 425 μm OS in the son). In both patients, slit lamp biomicroscopic and in vivo laser confocal microscopic examination showed similar results. Anterior corneal mosaics produced by rubbing the eyelid under fluorescein were completely absent in both eyes. In vivo laser confocal microscopy revealed an absent or atrophic Bowman's layer; a trace of a presumed Bowman's layer and/or basement membrane was barely visible with high intensity. Additionally, K-structures were completely absent in both eyes. The absence of K-structures and fluorescein anterior corneal mosaics strongly suggested an abnormality of Bowman's layer in these OI patients.

Eye tracking detects disconjugate eye movements associated with structural traumatic brain injury and concussion.

PubMed

Samadani, Uzma; Ritlop, Robert; Reyes, Marleen; Nehrbass, Elena; Li, Meng; Lamm, Elizabeth; Schneider, Julia; Shimunov, David; Sava, Maria; Kolecki, Radek; Burris, Paige; Altomare, Lindsey; Mehmood, Talha; Smith, Theodore; Huang, Jason H; McStay, Christopher; Todd, S Rob; Qian, Meng; Kondziolka, Douglas; Wall, Stephen; Huang, Paul

2015-04-15

Disconjugate eye movements have been associated with traumatic brain injury since ancient times. Ocular motility dysfunction may be present in up to 90% of patients with concussion or blast injury. We developed an algorithm for eye tracking in which the Cartesian coordinates of the right and left pupils are tracked over 200 sec and compared to each other as a subject watches a short film clip moving inside an aperture on a computer screen. We prospectively eye tracked 64 normal healthy noninjured control subjects and compared findings to 75 trauma subjects with either a positive head computed tomography (CT) scan (n=13), negative head CT (n=39), or nonhead injury (n=23) to determine whether eye tracking would reveal the disconjugate gaze associated with both structural brain injury and concussion. Tracking metrics were then correlated to the clinical concussion measure Sport Concussion Assessment Tool 3 (SCAT3) in trauma patients. Five out of five measures of horizontal disconjugacy were increased in positive and negative head CT patients relative to noninjured control subjects. Only one of five vertical disconjugacy measures was significantly increased in brain-injured patients relative to controls. Linear regression analysis of all 75 trauma patients demonstrated that three metrics for horizontal disconjugacy negatively correlated with SCAT3 symptom severity score and positively correlated with total Standardized Assessment of Concussion score. Abnormal eye-tracking metrics improved over time toward baseline in brain-injured subjects observed in follow-up. Eye tracking may help quantify the severity of ocular motility disruption associated with concussion and structural brain injury.

Eye Tracking Detects Disconjugate Eye Movements Associated with Structural Traumatic Brain Injury and Concussion

PubMed Central

Ritlop, Robert; Reyes, Marleen; Nehrbass, Elena; Li, Meng; Lamm, Elizabeth; Schneider, Julia; Shimunov, David; Sava, Maria; Kolecki, Radek; Burris, Paige; Altomare, Lindsey; Mehmood, Talha; Smith, Theodore; Huang, Jason H.; McStay, Christopher; Todd, S. Rob; Qian, Meng; Kondziolka, Douglas; Wall, Stephen; Huang, Paul

2015-01-01

Abstract Disconjugate eye movements have been associated with traumatic brain injury since ancient times. Ocular motility dysfunction may be present in up to 90% of patients with concussion or blast injury. We developed an algorithm for eye tracking in which the Cartesian coordinates of the right and left pupils are tracked over 200 sec and compared to each other as a subject watches a short film clip moving inside an aperture on a computer screen. We prospectively eye tracked 64 normal healthy noninjured control subjects and compared findings to 75 trauma subjects with either a positive head computed tomography (CT) scan (n=13), negative head CT (n=39), or nonhead injury (n=23) to determine whether eye tracking would reveal the disconjugate gaze associated with both structural brain injury and concussion. Tracking metrics were then correlated to the clinical concussion measure Sport Concussion Assessment Tool 3 (SCAT3) in trauma patients. Five out of five measures of horizontal disconjugacy were increased in positive and negative head CT patients relative to noninjured control subjects. Only one of five vertical disconjugacy measures was significantly increased in brain-injured patients relative to controls. Linear regression analysis of all 75 trauma patients demonstrated that three metrics for horizontal disconjugacy negatively correlated with SCAT3 symptom severity score and positively correlated with total Standardized Assessment of Concussion score. Abnormal eye-tracking metrics improved over time toward baseline in brain-injured subjects observed in follow-up. Eye tracking may help quantify the severity of ocular motility disruption associated with concussion and structural brain injury. PMID:25582436

Mice Lacking the Giant Protocadherin mFAT1 Exhibit Renal Slit Junction Abnormalities and a Partially Penetrant Cyclopia and Anophthalmia Phenotype

PubMed Central

Ciani, Lorenza; Patel, Anjla; Allen, Nicholas D.; ffrench-Constant, Charles

2003-01-01

While roles in adhesion and morphogenesis have been documented for classical cadherins, the nonclassical cadherins are much less well understood. Here we have examined the functions of the giant protocadherin FAT by generating a transgenic mouse lacking mFAT1. These mice exhibit perinatal lethality, most probably caused by loss of the renal glomerular slit junctions and fusion of glomerular epithelial cell processes (podocytes). In addition, some mFAT1−/− mice show defects in forebrain development (holoprosencephaly) and failure of eye development (anophthalmia). In contrast to Drosophila, where FAT acts as a tumor suppressor gene, we found no evidence for abnormalities of proliferation in two tissues (skin and central nervous system [CNS]) containing stem and precursor cell populations and in which FAT is expressed strongly. Our results confirm a necessary role for FAT1 in the modified adhesion junctions of the renal glomerular epithelial cell and reveal hitherto unsuspected roles for FAT1 in CNS development. PMID:12724416

Visual Scan Paths and Recognition of Facial Identity in Autism Spectrum Disorder and Typical Development

PubMed Central

Wilson, C. Ellie; Palermo, Romina; Brock, Jon

2012-01-01

Background Previous research suggests that many individuals with autism spectrum disorder (ASD) have impaired facial identity recognition, and also exhibit abnormal visual scanning of faces. Here, two hypotheses accounting for an association between these observations were tested: i) better facial identity recognition is associated with increased gaze time on the Eye region; ii) better facial identity recognition is associated with increased eye-movements around the face. Methodology and Principal Findings Eye-movements of 11 children with ASD and 11 age-matched typically developing (TD) controls were recorded whilst they viewed a series of faces, and then completed a two alternative forced-choice recognition memory test for the faces. Scores on the memory task were standardized according to age. In both groups, there was no evidence of an association between the proportion of time spent looking at the Eye region of faces and age-standardized recognition performance, thus the first hypothesis was rejected. However, the ‘Dynamic Scanning Index’ – which was incremented each time the participant saccaded into and out of one of the core-feature interest areas – was strongly associated with age-standardized face recognition scores in both groups, even after controlling for various other potential predictors of performance. Conclusions and Significance In support of the second hypothesis, results suggested that increased saccading between core-features was associated with more accurate face recognition ability, both in typical development and ASD. Causal directions of this relationship remain undetermined. PMID:22666378

Macrophages Inhibit Neovascularization in a Murine Model of Age-Related Macular Degeneration

PubMed Central

Apte, Rajendra S; Richter, Jennifer; Herndon, John; Ferguson, Thomas A

2006-01-01

Background Age-related macular degeneration (AMD) is the leading cause of blindness in people over 50 y of age in at least three continents. Choroidal neovascularization (CNV) is the process by which abnormal blood vessels develop underneath the retina. CNV develops in 10% of patients with AMD but accounts for up to 90% of the blindness from AMD. Although the precise etiology of CNV in AMD remains unknown, the macrophage component of the inflammatory response, which has been shown to promote tumor growth and support atherosclerotic plaque formation, is thought to stimulate aberrant angiogenesis in blinding eye diseases. The current theory is that macrophage infiltration promotes the development of neovascularization in CNV. Methods and Findings We examined the role of macrophages in a mouse model of CNV. IL-10 −/− mice, which have increased inflammation in response to diverse stimuli, have significantly reduced CNV with increased macrophage infiltrates compared to wild type. Prevention of macrophage entry into the eye promoted neovascularization while direct injection of macrophages significantly inhibited CNV. Inhibition by macrophages was mediated by the TNF family death molecule Fas ligand (CD95-ligand). Conclusions Immune vascular interactions can be highly complex. Normal macrophage function is critical in controlling pathologic neovascularization in the eye. IL-10 regulates macrophage activity in the eye and is an attractive therapeutic target in order to suppress or inhibit CNV in AMD that can otherwise lead to blindness. PMID:16903779

Genetic link between Cabeza, a Drosophila homologue of Fused in Sarcoma (FUS), and the EGFR signaling pathway

DOE Office of Scientific and Technical Information (OSTI.GOV)

Shimamura, Mai; Kyotani, Akane; Insect Biomedical Research Center, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto 606-8585

2014-08-01

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease that causes progressive muscular weakness. Fused in Sarcoma (FUS) that has been identified in familial ALS is an RNA binding protein that is normally localized in the nucleus. However, its function in vivo is not fully understood. Drosophila has Cabeza (Caz) as a FUS homologue and specific knockdown of Caz in the eye imaginal disc and pupal retina using a GMR-GAL4 driver was here found to induce an abnormal morphology of the adult compound eyes, a rough eye phenotype. This was partially suppressed by expression of the apoptosis inhibitor P35. Knockdownmore » of Caz exerted no apparent effect on differentiation of photoreceptor cells. However, immunostaining with an antibody to Cut that marks cone cells revealed fusion of these and ommatidia of pupal retinae. These results indicate that Caz knockdown induces apoptosis and also inhibits differentiation of cone cells, resulting in abnormal eye morphology in adults. Mutation in EGFR pathway-related genes, such as rhomboid-1, rhomboid-3 and mirror suppressed the rough eye phenotype induced by Caz knockdown. Moreover, the rhomboid-1 mutation rescued the fusion of cone cells and ommatidia observed in Caz knockdown flies. The results suggest that Caz negatively regulates the EGFR signaling pathway required for determination of cone cell fate in Drosophila. - Highlights: • Knockdown of Cabeza induced rough eye phenotype. • Knockdown of Cabeza induced fusion of cone cells in pupal retinae. • Knockdown of Cabeza induced apoptosis in pupal retinae. • Mutation in EGFR pathway-related genes suppressed the rough eye phenotype. • Cabeza may negatively regulate the EGFR pathway.« less

Acute Zonal Cone Photoreceptor Outer Segment Loss.

PubMed

Aleman, Tomas S; Sandhu, Harpal S; Serrano, Leona W; Traband, Anastasia; Lau, Marisa K; Adamus, Grazyna; Avery, Robert A

2017-05-01

The diagnostic path presented narrows down the cause of acute vision loss to the cone photoreceptor outer segment and will refocus the search for the cause of similar currently idiopathic conditions. To describe the structural and functional associations found in a patient with acute zonal occult photoreceptor loss. A case report of an adolescent boy with acute visual field loss despite a normal fundus examination performed at a university teaching hospital. Results of a complete ophthalmic examination, full-field flash electroretinography (ERG) and multifocal ERG, light-adapted achromatic and 2-color dark-adapted perimetry, and microperimetry. Imaging was performed with spectral-domain optical coherence tomography (SD-OCT), near-infrared (NIR) and short-wavelength (SW) fundus autofluorescence (FAF), and NIR reflectance (REF). The patient was evaluated within a week of the onset of a scotoma in the nasal field of his left eye. Visual acuity was 20/20 OU, and color vision was normal in both eyes. Results of the fundus examination and of SW-FAF and NIR-FAF imaging were normal in both eyes, whereas NIR-REF imaging showed a region of hyporeflectance temporal to the fovea that corresponded with a dense relative scotoma noted on light-adapted static perimetry in the left eye. Loss in the photoreceptor outer segment detected by SD-OCT co-localized with an area of dense cone dysfunction detected on light-adapted perimetry and multifocal ERG but with near-normal rod-mediated vision according to results of 2-color dark-adapted perimetry. Full-field flash ERG findings were normal in both eyes. The outer nuclear layer and inner retinal thicknesses were normal. Localized, isolated cone dysfunction may represent the earliest photoreceptor abnormality or a distinct entity within the acute zonal occult outer retinopathy complex. Acute zonal occult outer retinopathy should be considered in patients with acute vision loss and abnormalities on NIR-REF imaging, especially if multimodal imaging supports an intact retinal pigment epithelium and inner retina but an abnormal photoreceptor outer segment.

Predicting progression of glaucoma from rates of frequency doubling technology perimetry change.

PubMed

Meira-Freitas, Daniel; Tatham, Andrew J; Lisboa, Renato; Kuang, Tung-Mei; Zangwill, Linda M; Weinreb, Robert N; Girkin, Christopher A; Liebmann, Jeffrey M; Medeiros, Felipe A

2014-02-01

To evaluate the ability of longitudinal frequency doubling technology (FDT) to predict the development of glaucomatous visual field loss on standard automated perimetry (SAP) in glaucoma suspects. Prospective, observational cohort study. The study included 587 eyes of 367 patients with suspected glaucoma at baseline selected from the Diagnostic Innovations in Glaucoma Study (DIGS) and the African Descent and Glaucoma Evaluation Study (ADAGES). These eyes had an average of 6.7 ± 1.9 FDT tests during a mean follow-up time of 73.1 ± 28.0 months. Glaucoma suspects had intraocular pressure (IOP) >21 mmHg or an optic disc appearance suspicious of glaucoma. All patients had normal or nonrepeatable abnormal SAP at baseline. Humphrey Matrix FDT (Carl Zeiss Meditec, Inc, Dublin, CA) testing was performed within 6 months of SAP testing. The study end point was the development of 3 consecutive abnormal SAP test results. Joint longitudinal survival models were used to evaluate the ability of rates of FDT pattern standard deviation (PSD) change to predict the development of visual field loss on SAP, adjusting for confounding variables (baseline age, mean IOP, corneal thickness, and follow-up measurements of SAP PSD). The R(2) index was used to evaluate and compare the predictive abilities of the model containing longitudinal FDT PSD data with the model containing only baseline data. Sixty-three of 587 eyes (11%) developed SAP visual field loss during follow-up. The mean rate of FDT PSD change in eyes that developed SAP visual field loss was 0.07 dB/year versus 0.02 dB/year in those that did not (P < 0.001). Baseline FDT PSD and slopes of FDT PSD change were significantly predictive of progression, with hazard ratios of 1.11 per 0.1 dB higher (95% confidence interval [CI], 1.04-1.18; P = 0.002) and 4.40 per 0.1 dB/year faster (95% CI, 1.08-17.96; P = 0.04), respectively. The longitudinal model performed significantly better than the baseline model with an R(2) of 82% (95% CI, 74-89) versus 11% (95% CI, 2-24), respectively. Rates of FDT PSD change were highly predictive of the development of SAP visual field loss in glaucoma suspects. This finding suggests that longitudinal FDT evaluation may be useful for risk stratification of patients with suspected glaucoma. Copyright © 2014 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Determination of Risk Factors and Treatment of Dry Eye Disease in Type 1 Diabetes Before Corneal Complications at Sindh Institute of Ophthalmology And Visual Sciences.

PubMed

Shujaat, Shehnilla; Jawed, Muhammad; Memon, Shahzad; Talpur, Khalid Iqbal

2017-01-01

The objective of this study was to assess and determine the risk factors and treatment of dry eye disease in type 1 diabetes before any ocular surface or corneal complication occurs. This study was conducted at Sindh Institute of Ophthalmology And Visual Sciences, Hyderabad, Pakistan. Subjects and methods for observational study were undertaken at the Department of Ophthalmology Sindh Institute Of Ophthalmology And Visual Sciences, Hyderabad, Pakistan. Hundred confirmed cases of type 1 diabetes were included in the study by non probability convenience sampling. Tear film breakup time and schrimer test were carried out to determine dry eye disease. Data was collected by self-prepared questionnaire and entered and analyzed by using Statistical Program for Social Sciences (SPSS, version 20.0). The frequencies and percentage were recorded and any associations with predisposing factors were statistically analyzed by t test. Out of hundred patients, 71 (71%) were found to have dry eyes (P<0.001). The mean age of the subject in this study was 50.97 years (range 30-70 years). Old age was related to high risk of dry eye disease (P<0.001). There was no big difference in the incidence of dry eyes in males and females. Long duration was found to be related with increased occurrence of dry eyes (P<0.001). We found higher values for abnormal tear film break up time than schirmer test values leading to increased occurrence of evaporative dry eyes. There is marked increase in frequency/ risk of developing dry eye disease in type 1 diabetes patients. Therefore, it is recommended to have periodic ophthalmic examination for type 1 diabetic patients.

Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis

PubMed Central

Chen, Yu; Doughman, Yong-qiu; Gu, Shi; Jarrell, Andrew; Aota, Shin-ichi; Cvekl, Ales; Watanabe, Michiko; Dunwoodie, Sally L.; Johnson, Randall S.; van Heyningen, Veronica; Kleinjan, Dirk A.; Beebe, David C.; Yang, Yu-Chung

2009-01-01

Cited2 is a transcriptional modulator with pivotal roles in different biological processes. Cited2-deficient mouse embryos manifested two major defects in the developing eye. An abnormal corneal-lenticular stalk was characteristic of Cited2−/− developing eyes, a feature reminiscent of Peters’ anomaly, which can be rescued by increased Pax6 gene dosage in Cited2−/− embryonic eyes. In addition, the hyaloid vascular system showed hyaloid hypercellularity consisting of aberrant vasculature, which might be correlated with increased VEGF expression in the lens. Deletion of Hif1a (which encodes HIF-1α) in Cited2−/− lens specifically eliminated the excessive accumulation of cellular mass and aberrant vasculature in the developing vitreous without affecting the corneal-lenticular stalk phenotype. These in vivo data demonstrate for the first time dual functions for Cited2: one upstream of, or together with, Pax6 in lens morphogenesis; and another in the normal formation of the hyaloid vasculature through its negative modulation of HIF-1 signaling. Taken together, our study provides novel mechanistic revelation for lens morphogenesis and hyaloid vasculature formation and hence might offer new insights into the etiology of Peters’ anomaly and ocular hypervascularity. PMID:18653562

Evaluation of Hydroxychloroquine Retinopathy With Multifocal Electroretinography

PubMed Central

So, Scott C.; Hedges, Thomas R.; Schuman, Joel S.; Quireza, Maria Luz Amaro

2007-01-01

BACKGROUND AND OBJECTIVE To describe the changes revealed by multifocal electroretinography (ERG) in patients taking hydroxychloroquine. PATIENTS AND METHODS Six patients being treated for various inflammatory conditions with hydroxychloroquine for periods ranging from 8 months to 7 years were consecutively evaluated. Each examination included measurement of Snellen visual acuities, Amsler grid assessment, and automated visual field testing. In some cases, funduscopic examinations were complimented by photography and fluorescein angiography. Multifocal ERG was performed for all patients. RESULTS Three patients (six eyes) were found to have distinctive abnormalities on multifocal ERG consisting of pericentral depression of ERG signals. The abnormalities on multifocal ERG corresponded with the patients’ subjective descriptions and the visual field depiction of their pericentral scotomas. All affected patients had been taking hydroxychloroquine for at least 7 years. One patient with generalized depression on multifocal ERG had possible hydroxychloroquine retinopathy. Two patients (three eyes) had relatively normal results on multifocal ERG. CONCLUSION Multifocal ERG objectively demonstrates depression of signals in the perifoveal region in visually symptomatic patients with long-term hydroxychloroquine use. Even patients with normal visual acuity and no fundus abnormalities can have abnormal results. Although we have not yet identified patients with abnormalities on multifocal ERG before the onset of symptoms, multifocal ERG may be useful in monitoring patients at risk and may provide an earlier opportunity to identify maculopathy. PMID:12757106

Social Attention, Joint Attention and Sustained Attention in Autism Spectrum Disorder and Williams Syndrome: Convergences and Divergences.

PubMed

Vivanti, Giacomo; Fanning, Peter A J; Hocking, Darren R; Sievers, Stephanie; Dissanayake, Cheryl

2017-06-01

There is limited knowledge on shared and syndrome-specific attentional profiles in autism spectrum disorder (ASD) and Williams syndrome (WS). Using eye-tracking, we examined attentional profiles of 35 preschoolers with ASD, 22 preschoolers with WS and 20 typically developing children across social and non-social dimensions of attention. Children with ASD and those with WS presented with overlapping deficits in spontaneous visual engagement with the target of others' attention and in sustained attention. Children with ASD showed syndrome-specific abnormalities in monitoring and following a person's referential gaze, as well as a lack of preferential attention to social stimuli. Children with ASD and WS present with shared as well as syndrome-specific abnormalities across social and non-social dimensions of attention.

The ocular pathology of Norrie disease in a fetus of 11 weeks' gestational age.

PubMed

Parsons, M A; Curtis, D; Blank, C E; Hughes, H N; McCartney, A C

1992-01-01

The ocular pathology of Norrie disease was studied for the first time in a fetus of 11 weeks' gestation, following prenatal diagnosis using genetic markers for Norrie disease and elective abortion. The eyes were histologically normal, with no evidence of primary neuroectodermal maldevelopment of the retina, previously postulated to be the cause of the ocular changes. We believe that the retinal and other manifestations of Norrie disease are the result of a primary abnormality of vascular proliferation, probably in relation to persistent hyperplastic primary vitreous after approximately 14 weeks' gestation. We postulate that the ocular and otological effects of Norrie disease may be due to a genetically mediated abnormality of secretion of, or sensitivity to, angiogenic growth factors at endodermal-neuroectodermal interfaces during fetal and postnatal development.

Childhood blindness in the context of VISION 2020--the right to sight.

PubMed Central

Gilbert, C.; Foster, A.

2001-01-01

The major causes of blindness in children vary widely from region to region, being largely determined by socioeconomic development, and the availability of primary health care and eye care services. In high-income countries, lesions of the optic nerve and higher visual pathways predominate as the cause of blindness, while corneal scarring from measles, vitamin A deficiency, the use of harmful traditional eye remedies, and ophthalmia neonatorum are the major causes in low-income countries. Retinopathy of prematurity is an important cause in middle-income countries. Other significant causes in all countries are cataract, congenital abnormalities, and hereditary retinal dystrophies. It is estimated that, in almost half of the children who are blind today, the underlying cause could have been prevented, or the eye condition treated to preserve vision or restore sight. The control of blindness in children is a priority within the World Health Organization's VISION 2020 programme. Strategies need to be region specific, based on activities to prevent blindness in the community--through measles immunization, health education, and control of vitamin A deficiency--and the provision of tertiary-level eye care facilities for conditions that require specialist management. PMID:11285667

Adaptability of the Immature Ocular Motor Control System: Unilateral IGF-1 Medial Rectus Treatment.

PubMed

Willoughby, Christy L; Fleuriet, Jérome; Walton, Mark M; Mustari, Michael J; McLoon, Linda K

2015-06-01

Unilateral treatment with sustained release IGF-1 to one medial rectus muscle in infant monkeys was performed to test the hypothesis that strabismus would develop as a result of changes in extraocular muscles during the critical period of development of binocularity. Sustained release IGF-1 pellets were implanted unilaterally on one medial rectus muscle in normal infant monkeys during the first 2 weeks of life. Eye position was monitored using standard photographic methods. After 3 months of treatment, myofiber and neuromuscular size, myosin composition, and innervation density were quantified in all rectus muscles and compared to those in age-matched controls. Sustained unilateral IGF-1 treatments resulted in strabismus for all treated subjects; 3 of the 4 subjects had a clinically significant strabismus of more than 10°. Both the treated medial rectus and the untreated ipsilateral antagonist lateral rectus muscles had significantly larger myofibers. No adaptation in myofiber size occurred in the contralateral functionally yoked lateral rectus or in myosin composition, neuromuscular junction size, or nerve density. Sustained unilateral IGF-1 treatment to extraocular muscles during the sensitive period of development of orthotropic eye alignment and binocularity was sufficient to disturb ocular motor development, resulting in strabismus in infant monkeys. This could be due to altering fusion of gaze during the early sensitive period. Serial measurements of eye alignment suggested the IGF-1-treated infants received insufficient coordinated binocular experience, preventing the establishment of normal eye alignment. Our results uniquely suggest that abnormal signaling by the extraocular muscles may be a cause of strabismus.

Adaptability of the Immature Ocular Motor Control System: Unilateral IGF-1 Medial Rectus Treatment

PubMed Central

Willoughby, Christy L.; Fleuriet, Jérome; Walton, Mark M.; Mustari, Michael J.; McLoon, Linda K.

2015-01-01

Purpose. Unilateral treatment with sustained release IGF-1 to one medial rectus muscle in infant monkeys was performed to test the hypothesis that strabismus would develop as a result of changes in extraocular muscles during the critical period of development of binocularity. Methods. Sustained release IGF-1 pellets were implanted unilaterally on one medial rectus muscle in normal infant monkeys during the first 2 weeks of life. Eye position was monitored using standard photographic methods. After 3 months of treatment, myofiber and neuromuscular size, myosin composition, and innervation density were quantified in all rectus muscles and compared to those in age-matched controls. Results. Sustained unilateral IGF-1 treatments resulted in strabismus for all treated subjects; 3 of the 4 subjects had a clinically significant strabismus of more than 10°. Both the treated medial rectus and the untreated ipsilateral antagonist lateral rectus muscles had significantly larger myofibers. No adaptation in myofiber size occurred in the contralateral functionally yoked lateral rectus or in myosin composition, neuromuscular junction size, or nerve density. Conclusions. Sustained unilateral IGF-1 treatment to extraocular muscles during the sensitive period of development of orthotropic eye alignment and binocularity was sufficient to disturb ocular motor development, resulting in strabismus in infant monkeys. This could be due to altering fusion of gaze during the early sensitive period. Serial measurements of eye alignment suggested the IGF-1-treated infants received insufficient coordinated binocular experience, preventing the establishment of normal eye alignment. Our results uniquely suggest that abnormal signaling by the extraocular muscles may be a cause of strabismus. PMID:26030103

Sensitivity of visual evoked potentials and spectral domain optical coherence tomography in early relapsing remitting multiple sclerosis.

PubMed

Behbehani, Raed; Ahmed, Samar; Al-Hashel, Jasem; Rousseff, Rossen T; Alroughani, Raed

2017-02-01

Visual evoked potentials and spectral-domain optical coherence tomography are common ancillary studies that assess the visual pathways from a functional and structural aspect, respectively. To compare prevalence of abnormalities of Visual evoked potentials (VEP) and spectral-domain optical coherence tomography (SDOCT) in patients with relapsing remitting multiple sclerosis (RRMS). A cross-sectional study of 100 eyes with disease duration of less than 5 years since the diagnosis. Correlation between retinal nerve fiber layer and ganglion-cell/inner plexiform layer with pattern-reversal visual evoked potentials amplitude and latency and contrast sensitivity was performed. The prevalence of abnormalities in pattern-reversal visual VEP was 56% while that of SOCT was 48% in all eyes. There was significant negative correlations between the average RNFL (r=-0.34, p=0.001) and GCIPL (r=-0.39, p<0.001) with VEP latency. In eyes with prior optic neuritis, a significant negative correlation was seen between average RNFL (r=-0.33, p=0.037) and GCIPL (r=-0.40, p=0.010) with VEP latency. We have found higher prevalence of VEP abnormalities than SCOCT in early relapsing-remitting multiple sclerosis. This suggests that VEP has a higher sensitivity for detecting lesions of the visual pathway in patients with early RRMS. Copyright © 2016 Elsevier B.V. All rights reserved.

Gait Balance Disorder by Thalamic Infarction with the Disorder of Interstitial Nucleus of Cajal

PubMed Central

Kurosu, A.; Hayashi, Y.; Wada, K.; Nagaoka, M.

2011-01-01

The interstitial nucleus of Cajal (INC) is thought to play an important role in torsional/vertical eye position and head posture, and disorders of the INC induce abnormal ocular movements and head tilt. Our patients with ocular tilt reactions simultaneously also had disturbances in ambulatory balance, yet no reports address the loss of balance control induced by disorders of the INC. We examined the ambulatory disturbances induced by INC lesion. We experienced three patients with ocular movement disorders and abnormal head tilt due to thalamic infarction. We performed ophthalmic examinations on and checked the balance of them. With funduscopy, abnormal cycloduction was seen in the unaffected side and normal cycloduction was observed in the affected side. Nevertheless, Hess charts showed distortions in the visual image of both eyes. They all had disorders of balance control. We tried to treat them using the Bobath approach for improving their ambulatory balance. With subsequent improvements in balance control it was possible for them to take short walks, but it was difficult to make any improvements in their ocular movement. The INC is related to balance control of ambulation and disorders of the INC induce ambulatory disturbances. Cycloduction was only observed in the unaffected side, but Hess charts showed distortions of the visual image in both eyes. Ambulation was briefly improved, but diplopia persisted in these patients. PMID:21769260

Medio-lateral postural instability in subjects with tinnitus.

PubMed

Kapoula, Zoi; Yang, Qing; Lê, Thanh-Thuan; Vernet, Marine; Berbey, Nolwenn; Orssaud, Christophe; Londero, Alain; Bonfils, Pierre

2011-01-01

Many patients show modulation of tinnitus by gaze, jaw or neck movements, reflecting abnormal sensorimotor integration, and interaction between various inputs. Postural control is based on multi-sensory integration (visual, vestibular, somatosensory, and oculomotor) and indeed there is now evidence that posture can also be influenced by sound. Perhaps tinnitus influences posture similarly to external sound. This study examines the quality of postural performance in quiet stance in patients with modulated tinnitus. Twenty-three patients with highly modulated tinnitus were selected in the ENT service. Twelve reported exclusively or predominately left tinnitus, eight right, and three bilateral. Eighteen control subjects were also tested. Subjects were asked to fixate a target at 40 cm for 51 s; posturography was performed with the platform (Technoconcept, 40 Hz) for both the eyes open and eyes closed conditions. For both conditions, tinnitus subjects showed abnormally high lateral body sway (SDx). This was corroborated by fast Fourrier Transformation (FFTx) and wavelet analysis. For patients with left tinnitus only, medio-lateral sway increased significantly when looking away from the center. Similarly to external sound stimulation, tinnitus could influence lateral sway by activating attention shift, and perhaps vestibular responses. Poor integration of sensorimotor signals is another possibility. Such abnormalities would be accentuated in left tinnitus because of the importance of the right cerebral cortex in processing both auditory-tinnitus eye position and attention.

Neural bases of eye and gaze processing: The core of social cognition

PubMed Central

Itier, Roxane J.; Batty, Magali

2014-01-01

Eyes and gaze are very important stimuli for human social interactions. Recent studies suggest that impairments in recognizing face identity, facial emotions or in inferring attention and intentions of others could be linked to difficulties in extracting the relevant information from the eye region including gaze direction. In this review, we address the central role of eyes and gaze in social cognition. We start with behavioral data demonstrating the importance of the eye region and the impact of gaze on the most significant aspects of face processing. We review neuropsychological cases and data from various imaging techniques such as fMRI/PET and ERP/MEG, in an attempt to best describe the spatio-temporal networks underlying these processes. The existence of a neuronal eye detector mechanism is discussed as well as the links between eye gaze and social cognition impairments in autism. We suggest impairments in processing eyes and gaze may represent a core deficiency in several other brain pathologies and may be central to abnormal social cognition. PMID:19428496

A 3D virtual reality ophthalmoscopy trainer.

PubMed

Wilson, Andrew S; O'Connor, Jake; Taylor, Lewis; Carruthers, David

2017-12-01

Performing eye examinations is an important clinical skill that medical students often find difficult to become proficient in. This paper describes the development and evaluation of an innovative 3D virtual reality (VR) training application to support learning these skills. The VR ophthalmoscope was developed by a clinical team and technologist using the unity game engine, smartphone and virtual reality headset. It has a series of tasks that include performing systematic eye examinations, identifying common eye pathologies and a knowledge quiz. As part of their clinical training, 15 fourth-year medical students were surveyed for their views on this teaching approach. The Technology Acceptance Model was used to evaluate perceived usefulness and ease of use. Data were also collected on the usability of the app, together with the students' written comments about it. Users agreed that the teaching approach improved their understanding of ophthalmoscopy (n = 14), their ability to identify landmarks in the eye (n = 14) and their ability to recognise abnormalities (n = 15). They found the app easy to use (n = 15), the teaching approach informative (n = 13) and that it would increase students' confidence when performing these tasks in future (n = 15). Performing eye examinations is an important clinical skill DISCUSSION: The evaluation showed that a VR app can successfully simulate the processes involved in performing eye examinations. The app was highly rated for all elements of perceived usefulness, ease of use and usability. Medical students stated that they would like to be taught other medical skills in this way in future. © 2017 John Wiley & Sons Ltd and The Association for the Study of Medical Education.

Wave aberrations in rhesus monkeys with vision-induced ametropias

PubMed Central

Ramamirtham, Ramkumar; Kee, Chea-su; Hung, Li-Fang; Qiao-Grider, Ying; Huang, Juan; Roorda, Austin; Smith, Earl L.

2007-01-01

The purpose of this study was to investigate the relationship between refractive errors and high-order aberrations in infant rhesus monkeys. Specifically, we compared the monochromatic wave aberrations measured with a Shack-Hartman wavefront sensor between normal monkeys and monkeys with vision-induced refractive errors. Shortly after birth, both normal monkeys and treated monkeys reared with optically induced defocus or form deprivation showed a decrease in the magnitude of high-order aberrations with age. However, the decrease in aberrations was typically smaller in the treated animals. Thus, at the end of the lens-rearing period, higher than normal amounts of aberrations were observed in treated eyes, both hyperopic and myopic eyes and treated eyes that developed astigmatism, but not spherical ametropias. The total RMS wavefront error increased with the degree of spherical refractive error, but was not correlated with the degree of astigmatism. Both myopic and hyperopic treated eyes showed elevated amounts of coma and trefoil and the degree of trefoil increased with the degree of spherical ametropia. Myopic eyes also exhibited a much higher prevalence of positive spherical aberration than normal or treated hyperopic eyes. Following the onset of unrestricted vision, the amount of high-order aberrations decreased in the treated monkeys that also recovered from the experimentally induced refractive errors. Our results demonstrate that high-order aberrations are influenced by visual experience in young primates and that the increase in high-order aberrations in our treated monkeys appears to be an optical byproduct of the vision-induced alterations in ocular growth that underlie changes in refractive error. The results from our study suggest that the higher amounts of wave aberrations observed in ametropic humans are likely to be a consequence, rather than a cause, of abnormal refractive development. PMID:17825347

[Central retinal vein occlusion as the first symptom of ovarian cancer].

PubMed

Asensio-Sánchez, V M; Hernaez-Ortega, M C; Castresana-Jauregui, I

2013-12-01

A healthy 57-year-old woman presented with decreased vision in her right eye. Dilated fundus examination revealed central retinal vein occlusion (CRVO). The laboratory test results for hypercoagulability state showed an abnormal protein S. A few months later she developed an ovarian malignancy. This case illustrates an association between CRVO and ovarian tumour. Coagulation disorders in cancer may be a mechanism for CRVO. Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

PubMed Central

Elliott, J; Maltby, E L; Reynolds, B

1993-01-01

An interstitial deletion of the region q22.1-->q22.3 of chromosome 14 is described in a child with bilateral anophthalmia, dysmorphic features including micrognathia, small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidism. Interstitial deletions of the long arm of chromosome 14 are extremely rare, but this case seems to confirm that the region q22 is specifically concerned with pituitary and eye development. Images PMID:7682620

Antenatal diagnosis of complete facial duplication--a case report of a rare craniofacial defect.

PubMed

Rai, V S; Gaffney, G; Manning, N; Pirrone, P G; Chamberlain, P F

1998-06-01

We report a case of the prenatal sonographic detection of facial duplication, the diprosopus abnormality, in a twin pregnancy. The characteristic sonographic features of the condition include duplication of eyes, mouth, nose and both mid- and anterior intracranial structures. A heart-shaped abnormality of the cranial vault should prompt more detailed examination for other supportive features of this rare condition.

Abnormal Vestibulo-Ocular Reflexes in Autism: A Potential Endophenotype

DTIC Science & Technology

2013-06-01

Annual Report for 15 May 2012 – 14 May 2013 8 Table 5. Summary of Gaze Evoked Nystagmus Tests (no differences between groups) Target...abnormalities of vestibulo-ocular reflexes (VOR) in Autism Spectrum Disorder (ASD). Specific Aim 1: Characterize horizontal VOR post-rotary nystagmus ...without optokinetic feedback using a velocity step test. We hypothesize that in ASD vertical eye movement intrusions during horizontal nystagmus will

Cost effectiveness analysis of a visual screening program for primary school children in Thailand.

PubMed

Tengtrisorn, Supaporn; Sangsupawanitch, Pasuree; Chansawang, Wannee

2009-08-01

To analyze the cost-effectiveness of a visual screening program for primary school children in southern Thailand. The visual acuity of 1900 primary school children from 11 schools in southern Thailand was assessed using the Snellen chart, Hirschberg test, an eye examination by penlight, and observation of the red reflex by direct ophthalmoscope, between April 2006 and March 2007. Children with visual acuity of < 20/40 or an abnormal observation in either eye were referred for further eye examination and refraction measurement, at which time they were categorized, according to the severity of the eye condition(s). A cost analysis was then performed for various severity-of-condition groupings. One hundred sixty eight children (8.8%) were found with referable problems, of which 122 parents signed a consent formforfurther testing. The mean age was 8.7 years (range 6-12 years). One hundred seven of the 122 subjects (87.7%) were considered to have a refractive error with or without one or more other eye conditions. The mean direct cost for visual screening by the assistant researcher, not including project management and traveling expenses, was 14.9 Baht per student (approximately 0.5 USD, 0.3 Euro). For nationwide implementation, the per head expenditure for children with treatable problems would be 1018.4 Baht if children with mild, moderate and severe abnormal eye conditions were targeted, and increased to 2270.1 Baht if only children with moderate and severe conditions were targeted The results of the present study indicate that this visual screening program is efficient and useful for preliminary school children in Thailand.

Craniofacial abnormalities in homozygous Small eye (Sey/Sey) embryos and newborn mice.

PubMed

Kaufman, M H; Chang, H H; Shaw, J P

1995-06-01

The Small eye (Sey) gene in the mouse is lethal in the homozygous state. It is located on chromosome 2, is a mutation in the Pax-6 gene, and is genetically homologous with the human aniridia 2 (AN2) gene mutation. Numerous studies over the last few years, using genetic and molecular biological approaches, have investigated both the location of the gene as well as its possible mode of action. In the homozygous state, the primary defect appears to be limited to the failure of differentiation of the presumptive lens and nasal placodes. Such mice therefore display a characteristic phenotype; they possess neither eyes nor any nasal derivatives. Their heterozygous (Sey/+) and normal (+/+) littermates may be distinguished before birth only by a detailed examination of their eyes. Few detailed morphological/histological studies have been undertaken to date in the Sey/Sey embryos and newborn, and in the present study we describe a variety of craniofacial abnormalities that have not previously been reported. We observed, with one exception, delayed closure of the palate, and the presence in 80% of mice of an abnormal complement of upper incisor teeth, so that 35% possessed 1 supernumerary tooth while 45% possessed 2 supernumerary teeth. In these mice, a total of either 3 or 4, rather than the normal complement of 2, upper incisor teeth were present. Possibly the most unexpected finding, however, was the presence of a median cartilaginous rod-like structure which protruded between the 2 maxillae to give the Alizarin red S and Alcian blue-stained 'cleared' skulls of the newborn mice a characteristic 'unicorn-like' appearance. While this structure appeared to be a rostral extension of the chondrocranium, its exact derivation is unclear.

Vision Function in HIV-infected Individuals without Retinitis; Report of the Studies of Ocular Complications of AIDS Research Group

PubMed Central

Freeman, William R.; Van Natta, Mark L.; Jabs, Douglas; Sample, Pamela A.; Sadun, Alfredo A.; Thorne, Jennifer; Shah, Kayur H.; Holland, Gary N.

2008-01-01

Purpose To evaluate the prevalence and risk factors for vision loss in patients with clinical or immunologic AIDS without infectious retinitis. Design A prospective multicentered cohort study of patients with AIDS. Methods 1,351 patients (2,671 eyes) at 19 clinical trials centers diagnosed with AIDS but without major ocular complications of HIV. Standardized measurements of visual acuity, automated perimetry, and contrast sensitivity were analyzed and correlated with measurements of patients’ health and medical data relating to HIV infection. We evaluated correlations between vision function testing and HIV-related risk factors and medical testing. Results There were significant (p<0.05) associations between measures of decreasing vision function and indices of increasing disease severity including Karnofsky score and hemoglobin. A significant relationship was seen between low contrast sensitivity and decreasing levels of CD4+ T-cell count. Three percent of eyes had a visual acuity worse than 20/40 Snellen equivalents, which was significantly associated with a history of opportunistic infections and low Karnofsky score. When compared to external groups with normal vision, 39% of eyes had abnormal mean deviation on automated perimetry, 33% had abnormal pattern standard deviation, and 12% of eyes had low contrast sensitivity. Conclusions This study confirms that visual dysfunction is common in patients with AIDS but without retinitis. The most prevalent visual dysfunction is loss of visual field; nearly 40% of patients have some abnormal visual field. There is an association between general disease severity and less access to care and vision loss. The pathophysiology of this vision loss is unknown but is consistent with retinovascular disease or optic nerve disease. PMID:18191094

The early-stage diagnosis of albinic embryos by applying optical coherence tomography

NASA Astrophysics Data System (ADS)

Yang, Bor-Wen; Wang, Shih-Yuan; Wang, Yu-Yen; Cai, Jyun-Jhang; Chang, Chung-Hao

2013-09-01

Albinism is a kind of congenital disease of abnormal metabolism. Poecilia reticulata (guppy fish) is chosen as the model to study the development of albinic embryos as it is albinic, ovoviviparous and with short life period. This study proposed an imaging method for penetrative embryo investigation using optical coherence tomography. By imaging through guppy mother’s reproduction purse, we found the embryo’s eyes were the early-developed albinism features. As human’s ocular albinism typically appear at about four weeks old, it is the time to determine if an embryo will grow into an albino.

Association of fluorescein anterior corneal mosaic and corneal K-structures by in vivo laser confocal microscopy in patients with keratoconus.

PubMed

Kobayashi, Akira; Yokogawa, Hideaki; Mori, Natsuko; Masaki, Toshinori; Sugiyama, Kazuhisa

2017-01-01

To report the in vivo laser confocal microscopy findings of corneas with keratoconus, with special attention to abnormality of Bowman's layer and sub-Bowman's fibrous structures (Kobayashi-structures [K-structures]). Sixteen keratoconic eyes in 8 consecutive patients with keratoconus (4 males, 4 females, mean age, 41.1 years) were included in this study. Slit-lamp biomicroscopic photos were taken with or without fluorescein staining. The existence of anterior corneal mosaic (ACM) after eyelid rubbing under fluorescein staining was documented. In vivo laser confocal microscopic examinations were performed for all patients in both the central cone and the peripheral cornea to examine the existence of K-structures. According to the Amsler-Krumeich scale, the eyes were graded as follows: stage 1 (n=3), stage 2 (n=1), stage 3 (n=1), and stage 4 (n=11). ACM was observed in 7 eyes (61.1%) in the cone area and 16 eyes (100%) in the peripheral cornea among all keratoconic eyes enrolled in this study. In addition, K-structures were observed in the 7 eyes (61.1%) and 16 eyes (100%) in the peripheral cornea among all keratoconic eyes. The presence of the K-structures was completely matched (100%) with the presence of ACM in both the central cone and the peripheral cornea. In 11 eyes with stage 4 keratoconus, ACM and K-structure was absent in 9 eyes (81.8%) in the cone area. On the contrary, in 5 eyes with mild-to-moderate keratoconus (grade 1 to 3), ACM and K-structure was present in all eyes (100%) in the cone area. The absent ratio of ACM and K-structures in the cone area was significantly higher in stage 4 severe keratoconus compared to mild-to-moderate keratoconus (grade 1 to 3) (Fisher, P =0.005). The existence of ACM and K-structures in both the central cone and the peripheral cornea showed perfect accord in patients with keratoconus, indicating a strong association of ACM and K-structures in patients with keratoconus. With the progress of the keratoconus, it seemed that ACM and K-structure progressively disappeared, suggesting Bowman's layer abnormalities due to keratoconus. Further study in larger groups of patients with keratoconus is required to fully understand the significance of ACM/K-structures in keratoconic eyes and their association with Bowman's layer.

Potter syndrome

MedlinePlus

... Widely separated eyes with epicanthal folds , broad nasal bridge , low set ears , and receding chin Absence of ... Names Potter phenotype Images Amniotic fluid Broad nasal bridge References Copelovitch L, Kaplan BS. Developmental abnormalities of ...

Progression of hydroxychloroquine toxic effects after drug therapy cessation: new evidence from multimodal imaging.

PubMed

Mititelu, Mihai; Wong, Brandon J; Brenner, Marie; Bryar, Paul J; Jampol, Lee M; Fawzi, Amani A

2013-09-01

Given the infrequent occurrence of hydroxychloroquine toxic effects, few data are available about the presenting features and long-term follow-up of patients with hydroxychloroquine retinopathy, making it difficult to surmise the clinical course of patients after cessation of drug treatment. To report functional and structural findings of hydroxychloroquine retinal toxic effects after drug therapy discontinuation. A retrospective medical record review was performed to identify patients taking hydroxychloroquine who were screened for toxic effects from January 1, 2009, through August 31, 2012, in the eye centers of Northwestern University and the University of Southern California. Northwestern University Sorrel Rosin Eye Center, Chicago, Illinois, and the Doheny Eye Institute at the University of Southern California, Los Angeles. Seven consecutive patients diagnosed as having hydroxychloroquine retinal toxic effects. Retinal toxic effects. Seven patients (1 man and 6 women) with a mean age of 55.9 years (age range, 25-74 years) developed retinal toxic effects after using hydroxychloroquine for a mean of 10.4 years (range, 3-19 years). Fundus examination revealed macular pigmentary changes in all 7 patients, corresponding to abnormal fundus autofluorescence (FAF). On spectral domain optical coherence tomography, there was outer retinal foveal resistance (preservation of the external limiting membrane and the photoreceptor layer) in 6 patients. After drug therapy discontinuation, 5 patients experienced outer retinal regeneration (3 subfoveally and 2 parafoveally), with associated functional visual improvement on static perimetry in 2 patients. Over time, FAF remained stable in 3 patients, whereas the remaining patients had a pattern of hypoautofluorescence that replaced areas of initial hyperautofluorescence (2 patients) and enlargement of the total area of abnormal FAF (2 patients). Preservation of the external limiting membrane carries a positive prognostic value in hydroxychloroquine toxic effects because it may be associated with regeneration of the photoreceptor layer and with potential functional visual improvement on static perimetry. The patterns of abnormal FAF persist despite cessation of the medication, with enlargement of the total area of abnormal FAF being the hallmark of severe toxic effects. Relative foveal resistance in hydroxychloroquine toxic effects was supported by this case series. These findings emphasize the importance of early detection and the need for correlating clinical observations with multimodal imaging, particularly FAF and spectral domain optical coherence tomography.

MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 Diseases.

PubMed

Politi, Letterio Salvatore; Bianchi Marzoli, Stefania; Godi, Claudia; Panzeri, Marta; Ciasca, Paola; Brugnara, Gianluca; Castaldo, Anna; Di Bella, Daniela; Taroni, Franco; Nanetti, Lorenzo; Mariotti, Caterina

2016-05-01

Spinocerebellar ataxias type 2 and 28 (SCA2, SCA28) are autosomal dominant disorders characterized by progressive cerebellar and oculomotor abnormalities. We aimed to investigate cerebellar, brainstem, and extraocular muscle involvement in the mitochondrial SCA28 disease compared with SCA2. We obtained orbital and brain 1.5 T-magnetic resonance images (MRI) in eight SCA28 subjects, nine SCA2, and nine age-matched healthy subjects. Automated segmentation of cerebellum and frontal lobe was performed using Freesurfer software. Manual segmentations for midbrain, pons, and extraocular muscles were performed using OsiriX. Eye movement abnormalities in SCA2 subjects were characterized by slow horizontal saccades. Subjects with SCA28 variably presented hypometric saccades, saccadic horizontal pursuit, impaired horizontal gaze holding, and superior eyelid ptosis. Quantitative brain MRI demonstrated that cerebellar and pons volumes were significantly reduced in both SCA2 and SCA28 subjects compared with controls (P < 0.03), and in SCA2 subjects compared with SCA28 (P < 0.01). Midbrain and frontal lobe volumes were also significantly reduced in SCA2 compared to controls (P < 0.03), whereas these volumes did not differ between SCA2 and SCA28 and between SCA28 and control subjects. The extraocular muscle areas were 37% to 48% smaller in SCA28 subjects compared with controls (P < 0.002), and 14% to 36% smaller compared with SCA2 subjects (P < 0.03). Extraocular muscle areas did not differ between SCA2 and controls. Our MRI findings support the hypothesis of different cerebellar and extraocular myopathic contributions in the eye movement abnormalities in SCA2 and SCA28 diseases. In SCA28, a myopathic defect selectively involving the extraocular muscles supports a specific impairment of mitochondrial energy metabolism.

Multifocal and pattern-reversal visual evoked potentials vs. automated perimetry frequency-doubling technology matrix in optic neuritis

PubMed Central

Nebbioso, Marcella; Steigerwalt, Robert D; Pecori-Giraldi, Josè; Vingolo, Enzo M

2013-01-01

Background: To compare the usefulness of the traditional pattern-reversal Visual Evoked Potentials (VEP) with multifocal VEP (mfVEP) and Frequency-Doubling Technology (FDT) perimetry in the evaluation of the ocular abnormalities induced by acute or subacute optic neuritis (ON). Materials and Methods: The test results of 24 ON patients were compared with those obtained in 40 normal control subjects. MfVEP recordings were obtained by using an Optoelectronic Stimulator that extracts topographic VEP using a pseudorandom m-sequence stimulus. Receiver operator characteristic (ROC) curves were calculated to determine the sensitivity and specificity of abnormal values. Results: The frequency of the abnormal ocular findings differed in the ON patients according to the used technique. Reduced visual sensitivity was demonstrated in 12 eyes (54.5%) using FDT perimetry; 17 eyes (77.2%) showed decreased amplitude and/or an increase in the implicit time of the P1 wave in mfVEP and 20 eyes (90.9%) showed an abnormal decrease in the amplitude and/or an increase in the latency of the P100 peak at VEP examination. The areas under the ROC curves ranged from 0.743 to 0.935, with VEP having the largest areas. The VEP and mfVEP amplitudes and latencies yielded the greatest sensitivity and specificity. Conclusions: The mfVEP and the FDT perimetry can be used for the evaluation and monitoring of visual impairment in patients with ON. The most sensitive and practical diagnostic tool in patients with ON is, however, the traditional VEP. The mfVEP can be utilized in those cases with doubtful or negative VEP results. PMID:23412522

Comparison of multifocal visual evoked potential, static automated perimetry, and optical coherence tomography findings for assessing visual pathways in patients with pituitary adenomas.

PubMed

Qiao, Nidan; Zhang, Yichao; Ye, Zhao; Shen, Ming; Shou, Xuefei; Wang, Yongfei; Li, Shiqi; Wang, Min; Zhao, Yao

2015-10-01

There have been no studies investigating the correlation between structural [thickness of the retinal nerve fiber layer (RNFL) as determined by optical coherence tomography (OCT)] and functional [Humphrey visual field (HVF) or visual evoked potential (VEP) amplitude] measures of optic nerve integrity in patients with pituitary adenomas (PA). Patients with PAs were recruited between September 2010 and September 2013. OCT, standard automated perimetry (SAP), and multifical VEP (mfVEP) were performed. Agreement between OCT, SAP, and mfVEP values in classifying eyes/quadrants was determined using AC1 statistics. Pearson's correlation was used to examine relationships between structural and functional data. In total, 88.7% of the eyes tested showed abnormal SAP findings and 93.7% showed abnormal mfVEP findings. Only 14.8% of the eyes showed abnormal OCT findings. The agreement between SAP and mfVEP findings was 88.9% (AC1 = 0.87). The agreement between OCT and mfVEP findings was 24.2% (AC1 = -0.52), and that between OCT and SAP findings was 21.5% (AC1 = -0.56). The correlation values between RNFL thickness and the functional measurements were -0.601 for the mfVEP score (P = 0.000) and -0.441 for the SAP score (P = 0.000). The correlation between the mfVEP and SAP scores was -0.617 (P = 0.000). mfVEP, SAP, and OCT provided complementary information for detecting visual pathway abnormalities in patients with PAs. Good agreement was demonstrated between SAP and mfVEP and quantitative analysis of structure-function measurements revealed a moderate correlation.

[Preliminary application of video head impulse test in the diagnosis of vertigo].

PubMed

Zhang, Yanmei; Chen, Siqi; Zhong, Zhen; Chen, Li; Wu, Yuanding; Zhao, Guiping; Liu, Yuhe

2015-06-01

To investigate clinical application of head impulse test with video recording eye movements in the diagnosis of vertigo. The video head impulse test(vHIT) was used to measure the eye saccades and velocity gain in 95 patients with vertigo which were divided into two groups, peripheral vertigo (47 cases) and central vertigo(48 cases); the characteristics of eye saccades and velocity gain of six semicircular canals in different patients with vertigo were analyzed, and were compared between the two groups. The vHIT result in patients with peripheral vertigo: in 22 patients (23 affected ears) with Meniere's disease, 21 ears were abnormal (91. 3%); the vHIT results in 4 patients with vestibular schwannoma, 2 patients with vestibular neuritis, 5 patients with delayed endolymphatic hydrops, 6 patients with sudden hearing loss accompanied vertigo, and 8 patients with vestibular dysfunction, were abnormal with correct saccades and/or lower velocity gain of vHIT. The abnormal vHIT results were also found in 35 of 48 patients (72. 9%) with central vertigo, which including posterior cerebral circulation ischemia(7 patients), cerebral infarction/stroke(6 patients), and dizziness with vertigo(17 patients) and others(18 patients). Abnormal rate of vHIT in patients with peripheral vertigo was 95. 7% (45/47), which was significantly higher than that (72. 9%) in patients with central vertigo. It is easy to perform the vHIT which without adverse reactions. We can record high-frequency characteristics of vestibular-ocular reflex among six semicircular canals through vHIT. The vHIT results which show the function of vestibular ocular reflex in different diseases with vertigo, can help discriminate peripheral vertigo from central vertigo, and it is a practical assessment method for vertigo.

Animal models of ocular angiogenesis: from development to pathologies.

PubMed

Liu, Chi-Hsiu; Wang, Zhongxiao; Sun, Ye; Chen, Jing

2017-11-01

Pathological angiogenesis in the eye is an important feature in the pathophysiology of many vision-threatening diseases, including retinopathy of prematurity, diabetic retinopathy, and age-related macular degeneration, as well as corneal diseases with abnormal angiogenesis. Development of reproducible and reliable animal models of ocular angiogenesis has advanced our understanding of both the normal development and the pathobiology of ocular neovascularization. These models have also proven to be valuable experimental tools with which to easily evaluate potential antiangiogenic therapies beyond eye research. This review summarizes the current available animal models of ocular angiogenesis. Models of retinal and choroidal angiogenesis, including oxygen-induced retinopathy, laser-induced choroidal neovascularization, and transgenic mouse models with deficient or spontaneous retinal/choroidal neovascularization, as well as models with induced corneal angiogenesis, are widely used to investigate the molecular and cellular basis of angiogenic mechanisms. Theoretical concepts and experimental protocols of these models are outlined, as well as their advantages and potential limitations, which may help researchers choose the most suitable models for their investigative work.-Liu, C.-H., Wang, Z., Sun, Y., Chen, J. Animal models of ocular angiogenesis: from development to pathologies. © FASEB.

Topical Administration of Somatostatin Prevents Retinal Neurodegeneration in Experimental Diabetes

PubMed Central

Hernández, Cristina; García-Ramírez, Marta; Corraliza, Lidia; Fernández-Carneado, Jimena; Farrera-Sinfreu, Josep; Ponsati, Berta; González-Rodríguez, Águeda; Valverde, Ángela M.; Simó, Rafael

2013-01-01

Retinal neurodegeneration is an early event in the pathogenesis of diabetic retinopathy (DR). Somatostatin (SST) is an endogenous neuroprotective peptide that is downregulated in the diabetic eye. The aim of the study was to test the usefulness of topical administration of SST in preventing retinal neurodegeneration. For this purpose, rats with streptozotocin-induced diabetes mellitus (STZ-DM) were treated with either SST eye drops or vehicle for 15 days. Nondiabetic rats treated with vehicle served as a control group. Functional abnormalities were assessed by electroretinography (ERG), and neurodegeneration was assessed by measuring glial activation and the apoptotic rate. In addition, proapoptotic (FasL, Bid, and activation of caspase-8 and caspase-3) and survival signaling pathways (BclxL) were examined. Intraretinal concentrations of glutamate and its main transporter glutamate/aspartate transporter (GLAST) were also determined. Treatment with SST eye drops prevented ERG abnormalities, glial activation, apoptosis, and the misbalance between proapoptotic and survival signaling detected in STZ-DM rats. In addition, SST eye drops inhibited glutamate accumulation in the retina and GLAST downregulation induced by diabetes mellitus. We conclude that topical administration of SST has a potent effect in preventing retinal neurodegeneration induced by diabetes mellitus. In addition, our findings open up a new preventive pharmacological strategy targeted to early stages of DR. PMID:23474487

Topical administration of somatostatin prevents retinal neurodegeneration in experimental diabetes.

PubMed

Hernández, Cristina; García-Ramírez, Marta; Corraliza, Lidia; Fernández-Carneado, Jimena; Farrera-Sinfreu, Josep; Ponsati, Berta; González-Rodríguez, Agueda; Valverde, Angela M; Simó, Rafael

2013-07-01

Retinal neurodegeneration is an early event in the pathogenesis of diabetic retinopathy (DR). Somatostatin (SST) is an endogenous neuroprotective peptide that is downregulated in the diabetic eye. The aim of the study was to test the usefulness of topical administration of SST in preventing retinal neurodegeneration. For this purpose, rats with streptozotocin-induced diabetes mellitus (STZ-DM) were treated with either SST eye drops or vehicle for 15 days. Nondiabetic rats treated with vehicle served as a control group. Functional abnormalities were assessed by electroretinography (ERG), and neurodegeneration was assessed by measuring glial activation and the apoptotic rate. In addition, proapoptotic (FasL, Bid, and activation of caspase-8 and caspase-3) and survival signaling pathways (BclxL) were examined. Intraretinal concentrations of glutamate and its main transporter glutamate/aspartate transporter (GLAST) were also determined. Treatment with SST eye drops prevented ERG abnormalities, glial activation, apoptosis, and the misbalance between proapoptotic and survival signaling detected in STZ-DM rats. In addition, SST eye drops inhibited glutamate accumulation in the retina and GLAST downregulation induced by diabetes mellitus. We conclude that topical administration of SST has a potent effect in preventing retinal neurodegeneration induced by diabetes mellitus. In addition, our findings open up a new preventive pharmacological strategy targeted to early stages of DR.

Effects of Foveal Ablation on Emmetropization and Form-Deprivation Myopia

PubMed Central

Smith, Earl L.; Ramamirtham, Ramkumar; Qiao-Grider, Ying; Hung, Li-Fang; Huang, Juan; Kee, Chea-su; Coats, David; Paysse, Evelyn

2009-01-01

Purpose Because of the prominence of central vision in primates, it has generally been assumed that signals from the fovea dominate refractive development. To test this assumption, the authors determined whether an intact fovea was essential for either normal emmetropization or the vision-induced myopic errors produced by form deprivation. Methods In 13 rhesus monkeys at 3 weeks of age, the fovea and most of the perifovea in one eye were ablated by laser photocoagulation. Five of these animals were subsequently allowed unrestricted vision. For the other eight monkeys with foveal ablations, a diffuser lens was secured in front of the treated eyes to produce form deprivation. Refractive development was assessed along the pupillary axis by retinoscopy, keratometry, and A-scan ultrasonography. Control data were obtained from 21 normal monkeys and three infants reared with plano lenses in front of both eyes. Results Foveal ablations had no apparent effect on emmetropization. Refractive errors for both eyes of the treated infants allowed unrestricted vision were within the control range throughout the observation period, and there were no systematic interocular differences in refractive error or axial length. In addition, foveal ablation did not prevent form deprivation myopia; six of the eight infants that experienced monocular form deprivation developed myopic axial anisometropias outside the control range. Conclusions Visual signals from the fovea are not essential for normal refractive development or the vision-induced alterations in ocular growth produced by form deprivation. Conversely, the peripheral retina, in isolation, can regulate emmetropizing responses and produce anomalous refractive errors in response to abnormal visual experience. These results indicate that peripheral vision should be considered when assessing the effects of visual experience on refractive development. PMID:17724167

Visual impairment evaluation in 119 children with congenital Zika syndrome.

PubMed

Ventura, Liana O; Ventura, Camila V; Dias, Natália de C; Vilar, Isabelle G; Gois, Adriana L; Arantes, Tiago E; Fernandes, Luciene C; Chiang, Michael F; Miller, Marilyn T; Lawrence, Linda

2018-06-01

To assess visual impairment in a large sample of infants with congenital Zika syndrome (CZS) and to compare with a control group using the same assessment protocol. The study group was composed of infants with confirmed diagnosis of CZS. Controls were healthy infants matched for age, sex, and socioeconomic status. All infants underwent comprehensive ophthalmologic evaluation including visual acuity, visual function assessment, and visual developmental milestones. The CZS group included 119 infants; the control group, 85 infants. At examination, the mean age of the CZS group was 8.5 ± 1.2 months (range, 6-13 months); of the controls, 8.4 ± 1.8 months (range, 5-12 months; P = 0.598). Binocular Teller Acuity Card (TAC) testing was abnormal in 107 CZS infants and in 4 controls (89.9% versus 5% [P < 0.001]). In the study group, abnormal monocular TAC results were more frequent in eyes with funduscopic alterations (P = 0.008); however, 104 of 123 structurally normal eyes (84.6%) also presented abnormal TAC results. Binocular contrast sensitivity was reduced in 87 of 107 CZS infants and in 8 of 80 controls (81.3% versus 10% [P < 0.001]). The visual development milestones were less achieved by infants with CZS compared to controls (P < 0.001). Infants with CZS present with severe visual impairment. A protocol for assessment of the ocular findings, visual acuity, and visual developmental milestones tested against age-matched controls is suggested. Copyright © 2018 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Retinal adaptation abnormalities in primary open-angle glaucoma.

PubMed

Dul, Mitchell; Ennis, Robert; Radner, Shira; Lee, Barry; Zaidi, Qasim

2015-01-22

Dynamic color and brightness adaptation are crucial for visual functioning. The effects of glaucoma on retinal ganglion cells (RGCs) could compromise these functions. We have previously used slow dynamic changes of light at moderate intensities to measure the speed and magnitude of subtractive adaptation in RGCs. We used the same procedure to test if RGC abnormalities cause slower and weaker adaptation for patients with glaucoma when compared to age-similar controls. We assessed adaptation deficits in specific classes of RGCs by testing along the three cardinal color axes that isolate konio, parvo, and magno RGCs. For one eye each of 10 primary open-angle glaucoma patients and their age-similar controls, we measured the speed and magnitude of adapting to 1/32 Hz color modulations along the three cardinal axes, at central fixation and 8° superior, inferior, nasal, and temporal to fixation. In all 15 comparisons (5 locations × 3 color axes), average adaptation was slower and weaker for glaucoma patients than for controls. Adaptation developed slower at central targets than at 8° eccentricities for controls, but not for patients. Adaptation speed and magnitude differed between affected and control eyes even at retinal locations showing no visual field loss with clinical perimetry. Neural adaptation is weaker in glaucoma patients for all three classes of RGCs. Since adaptation abnormalities are manifested even at retinal locations not exhibiting a visual field loss, this novel form of assessment may offer a functional insight into glaucoma and an early diagnosis tool. Copyright 2015 The Association for Research in Vision and Ophthalmology, Inc.

[Myelinated nerve fibers coexisted with epiretinal membrane in macula--case report].

PubMed

Swiech-Zubilewicz, Anna; Bieliński, Paweł; Dolar-Szczasny, Joanna; Zarnowski, Tomasz

2012-01-01

We describe a case of peripapillary myelinated retinal nerve fibers complicated by epiretinal membrane in region of macula. 72 years old man was refered to our Clinic with suspicion of retinal detachment of right eye. Visual acuity of right eye was based to 0.05, in left eye was 0.5. IOP was normal in both eyes. In biomcroscopic evaluation the slight cortical cataract was observed in both eyes. Stereoscopic evaluation of right eye revealed the presence of massive peripapillary myelinated retinal nerve fibers and epiretinal membrane in the macula. In the left eye the less intense peripapillary myelinated retinal nerve fibers were noticed as well and the macular region was unchanged. With the use of OCT examination of the retina the presence of epiretinal membrane in the right eye was confirmed. OCT in the fellow eye presented an undisturbed foveal profile without any epiretinal abnormalities. Myelinated retinal nerve fibers can be complicated by epiretinal membrane. Probably the presence of macular pathologies depends on the extensions of nerve fibers. OCT examination is very helpful to give a proper diagnosis.

Postoperative restoration of foveal inner retinal configuration in patients with epiretinal membrane and abnormally thick inner retina.

PubMed

Yang, Hyun Seung; Kim, Jee Taek; Joe, Soo Geun; Lee, Joo Yong; Yoon, Young Hee

2015-01-01

To investigate foveal inner retinal layer (IRL) restoration and its relationship with functional visual outcomes after membrane peeling in eyes with idiopathic epiretinal membrane (ERM) with foveal central thick IRL. Consecutive eyes (n = 57) with a thick foveal IRL that underwent 25-gauge vitrectomy for ERM treatment were included. Complete ophthalmic and spectral domain optical coherence tomography examinations were performed before and 1 year after surgery. Before surgery, mean best-corrected visual acuity (BCVA) was 20/48 (logMAR, 0.38); central foveal thickness, 515.0 ± 90.9 μm; and central IRL thickness (CIRLT) at the fovea, 167.7 ± 80.1 μm. One year after ERM peeling, mean BCVA improved to 20/30 (logMAR, 0.18), central foveal thickness to 404.1 ± 96.4 μm, and CIRLT to 76.8 ± 68.0 μm. In multivariate analysis, initial BCVA and CIRLT at baseline correlated well with final BCVA and BCVA improvement at 12 months. In comparison with Group B eyes (persistently thick foveal IRL at 12 months), Group A eyes (restored foveal IRL at 12 months) had thinner CIRLT at baseline and showed a significant post-surgical improvement in BCVA and metamorphopsia. In eyes with idiopathic ERM and decreased vision due to abnormally thick IRL in the foveal center, postoperative visual outcomes correlated well with preoperative CIRLT and postoperative restoration of IRL configuration after ERM peeling.

In vivo laser confocal microscopy findings of a cornea with osteogenesis imperfecta

PubMed Central

Kobayashi, Akira; Higashide, Tomomi; Yokogawa, Hideaki; Yamazaki, Natsuko; Masaki, Toshinori; Sugiyama, Kazuhisa

2014-01-01

Objective To report the in vivo laser confocal microscopy findings of a cornea with osteogenesis imperfecta (OI) with special attention to the abnormality of Bowman’s layer and sub-Bowman’s fibrous structures (K-structures). Patients and methods Two patients (67-year-old male and his 26-year-old son) with OI type I were included in this study. Slit lamp biomicroscopic and in vivo laser confocal microscopic examinations were performed for both patients. Central corneal thickness and central endothelial cell density were also measured. Results Although the corneas looked clear with normal endothelial density for both eyes in both patients, they were quite thin (386 μm oculus dexter (OD) (the right eye) and 384 μm oculus sinister (OS) (the left eye) in the father and 430 μm OD and 425 μm OS in the son). In both patients, slit lamp biomicroscopic and in vivo laser confocal microscopic examination showed similar results. Anterior corneal mosaics produced by rubbing the eyelid under fluorescein were completely absent in both eyes. In vivo laser confocal microscopy revealed an absent or atrophic Bowman’s layer; a trace of a presumed Bowman’s layer and/or basement membrane was barely visible with high intensity. Additionally, K-structures were completely absent in both eyes. Conclusion The absence of K-structures and fluorescein anterior corneal mosaics strongly suggested an abnormality of Bowman’s layer in these OI patients. PMID:24591812

What do eye movements tell us about patients with neurological disorders? — An introduction to saccade recording in the clinical setting —

PubMed Central

TERAO, Yasuo; FUKUDA, Hideki; HIKOSAKA, Okihide

2017-01-01

Non-invasive and readily implemented in the clinical setting, eye movement studies have been conducted extensively not only in healthy human subjects but also in patients with neurological disorders. The purpose of saccade studies is to “read out” the pathophysiology underlying neurological disorders from the saccade records, referring to known primate physiology. In the current review, we provide an overview of studies in which we attempted to elucidate the patterns of saccade abnormalities in over 250 patients with neurological disorders, including cerebellar ataxia and brainstem pathology due to neurodegenerative disorders, and what they tell about the pathophysiology of patients with neurological disorders. We also discuss how interventions, such as deep brain stimulation, affect saccade performance and provide further insights into the workings of the oculomotor system in humans. Finally, we argue that it is important to understand the functional significance and behavioral correlate of saccade abnormalities in daily life, which could require eye tracking methodologies to be performed in settings similar to daily life. PMID:29225306

Neural mechanisms of oculomotor abnormalities in the infantile strabismus syndrome.

PubMed

Walton, Mark M G; Pallus, Adam; Fleuriet, Jérome; Mustari, Michael J; Tarczy-Hornoch, Kristina

2017-07-01

Infantile strabismus is characterized by numerous visual and oculomotor abnormalities. Recently nonhuman primate models of infantile strabismus have been established, with characteristics that closely match those observed in human patients. This has made it possible to study the neural basis for visual and oculomotor symptoms in infantile strabismus. In this review, we consider the available evidence for neural abnormalities in structures related to oculomotor pathways ranging from visual cortex to oculomotor nuclei. These studies provide compelling evidence that a disturbance of binocular vision during a sensitive period early in life, whatever the cause, results in a cascade of abnormalities through numerous brain areas involved in visual functions and eye movements. Copyright © 2017 the American Physiological Society.

Comparison of 1000-Centistoke versus 5000-Centistoke Silicone Oil in Complex Retinal Detachment Surgery.

PubMed

Zafar, Shakir; Shakir, Munira; Mahmood, Syed Asaad; Amin, Saima; Iqbal, Zafar

2016-01-01

To compare the efficacy and complications of using 1000-centistoke versus 5000-centistoke silicone oil for complex retinal detachment repair. Case series. LRBT Tertiary Eye Hospital, Karachi, from January 2007 to June 2013. Eighty-five eyes (85 patients) presenting with superior rhegmatogenous retinal detachments associated with PVR grades B and C (involving not more than 3 clock hours) were randomized to either 1000 centistokes (n=44) or 5000 centistokes (n=41) silicone oil group. All patients underwent 23-gauge pars plana vitrectomy surgery with silicone oil intraocular tamponade. Patient data was analysed at 18 months post-operatively. IBM SPSS 21 was used for data analysis. There were 52 male and 33 female patients aged between 22 and 70 years (45.2 ±16.2). After the first surgery, successful reattachment of the retina was achieved in 67 eyes (78.8%); of which 35 eyes were in 1000-centistoke and 32 eyes in 5000-centistoke groups. Mean pre-operative Best Corrected Visual Acuity (BCVA) was 1.63 ±0.54 which was improved to a mean post-operative BCVAof 1.46 ±0.78 (1.42 ±0.74 in 1000-centistoke group; 1.49 ±0.78 in 5000 centistoke group). The 1000-centistoke group had a significantly higher frequency of oil emulsification which necessitated early removal of silicone oil. There were 66 eyes (77%) with at least one complication (34 eyes in 1000-centistoke group; 32 eyes in 5000-centistoke group) including cataract, corneal abnormalities, raised IOP, hypotony, vitreous haemorrhage and retinal redetachment. Although visual and anatomical outcomes were comparable between the two groups, the 1000-centistoke silicone oil group developed early oil emulsification necessitating its early removal.

Polyarteritis Nodosa

MedlinePlus

... may also include skin abnormalities (rash, ulcers) and peripheral neuropathy (pain, the sensations of burning, tingling, or numbness, ... Skin Kidney Gastrointestinal tract Heart Eye Genitals Nerve Peripheral neuropathies are very common (50 to 70%). This includes ...

Linkage mapping of the primary disease locus for collie eye anomaly.

PubMed

Lowe, Jennifer K; Kukekova, Anna V; Kirkness, Ewen F; Langlois, Mariela C; Aguirre, Gustavo D; Acland, Gregory M; Ostrander, Elaine A

2003-07-01

Collie eye anomaly (cea) is a hereditary ocular disorder affecting development of the choroid and sclera segregating in several breeds of dog, including rough, smooth, and Border collies and Australian shepherds. The disease is reminiscent of the choroidal hypoplasia phenotype observed in humans in conjunction with craniofacial or renal abnormalities. In dogs, however, the clinical phenotype can vary significantly; many dogs exhibit no obvious clinical consequences and retain apparently normal vision throughout life, while severely affected animals develop secondary retinal detachment, intraocular hemorrhage, and blindness. We report genetic studies establishing that the primary cea phenotype, choroidal hypoplasia, segregates as an autosomal recessive trait with nearly 100% penetrance. We further report linkage mapping of the primary cea locus to a 3.9-cM region of canine chromosome 37 (LOD = 22.17 at theta = 0.076), in a region corresponding to human chromosome 2q35. These results suggest the presence of a developmental regulatory gene important in ocular embryogenesis, with potential implications for other disorders of ocular vascularization.

[Novel current and future therapy options for treatment of dry eye disease].

PubMed

Messmer, E M

2018-02-01

Dry eye disease was redefined by the dry eye workshop (DEWS II) in May 2017. According to the new definition "dry eye is a multifactorial disease of the ocular surface characterized by a loss of homeostasis of the tear film and accompanied by ocular symptoms". The current definition encompasses etiological factors, such as instability and hyperosmolarity of the tear film, ocular surface inflammation and damage as well as a new aspect compared to the former definition, neurosensory abnormalities. Recent and future therapeutic options for dry eye focus on treatment of the aforementioned pathogenetic events. New tear substitutes, medications and devices to stimulate tear production, innovative anti-inflammatory treatment, medications to influence corneal innervation and new methods for treatment of Meibomian gland dysfunction are already available or will be available in the near future.

Neuropathic ocular pain: an important yet underevaluated feature of dry eye

PubMed Central

Galor, A; Levitt, R C; Felix, E R; Martin, E R; Sarantopoulos, C D

2015-01-01

Dry eye has gained recognition as a public health problem given its prevalence, morbidity, and cost implications. Dry eye can have a variety of symptoms including blurred vision, irritation, and ocular pain. Within dry eye-associated ocular pain, some patients report transient pain whereas others complain of chronic pain. In this review, we will summarize the evidence that chronicity is more likely to occur in patients with dysfunction in their ocular sensory apparatus (ie, neuropathic ocular pain). Clinical evidence of dysfunction includes the presence of spontaneous dysesthesias, allodynia, hyperalgesia, and corneal nerve morphologic and functional abnormalities. Both peripheral and central sensitizations likely play a role in generating the noted clinical characteristics. We will further discuss how evaluating for neuropathic ocular pain may affect the treatment of dry eye-associated chronic pain. PMID:25376119

IncobotulinumtoxinA Injection

MedlinePlus

... tightening of the neck muscles that may cause neck pain and abnormal head positions) in adults and blepharospasm ( ... vision changes eyelid swelling eye pain or irritation neck pain shortness of breath fainting dizziness rash hives itching ...

[Role of stress in depression insomnia and sleep characteristics of commonly used animal stress models].

PubMed

Li, Yi-Ying; Hu, Zhen-Zhen; Huang, Zhi-Li; Yang, Su-Rong

2012-01-01

Depression and insomnia are intimately related. Depressed patients usually manifest sleep discontinuity and early awakening, reduced or no slow wave sleep (SWS) and shortened latency of rapid eye movement (REM) sleep. These sleep abnormalities are very similar to those caused by over activated hypothalamic-pituitary-adrenal (HPA) axis with stress. Therefore, the animal models developed by post-traumatic stress disorder or chronic unpredictable mild stress could be used to evaluate drugs which have effects of both anti-depression and improvement of sleep quality, and to provide a more reliable platform for further studis on the mechanisms of depression and accompanied insomnia. This review mainly focuses on the typical features of sleep disturbance of depression, possible pathophysiological mechanisms, establishment of animal stress models and analysis of their abnormal sleep characteristics.

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

PubMed Central

Zentner, Gabriel E.; Layman, Wanda S.; Martin, Donna M.; Scacheri, Peter C.

2010-01-01

CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities (including deafness) is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Here, we review the clinical features of 379 CHARGE patients who tested positive or negative for mutations in CHD7. We found that CHARGE individuals with CHD7 mutations more commonly have ocular colobomas, temporal bone anomalies (semicircular canal hypoplasia/dysplasia), and facial nerve paralysis compared with mutation negative individuals. We also highlight recent genetic and genomic studies that have provided functional insights into CHD7 and the pathogenesis of CHARGE syndrome. PMID:20186815

Refined localization of the Prieto-syndrome locus

DOE Office of Scientific and Technical Information (OSTI.GOV)

Martinez, F.; Prieto, F.; Gal, A.

PRS designates the locus for a syndromal form of X-linked mental retardation (Prieto syndrome) characterized by minor facial anomalies, ear malformation, abnormal growth of teeth, clinodactyly, sacral dimple, patellar luxation, malformation of lower limbs, abnormalities of the fundus of the eye, and subcortical cerebral atrophy. Linkage analysis localized the disease locus between DXS84 (Xp21.1) and DXS255. Here we present additional linkage data that provide further support and refinement of this localization. Individual III-18 gave birth to a male, currently aged 2 7/12 years, who clearly shows delayed psychomotor development. He began to walk at 23 months and his speech ismore » delayed. In addition, he shows the characteristic facial anomalies, {open_quotes}dysplastic{close_quotes} ears, sacral dimple, and clinodactyly, as do all other affected males in this family. 7 refs., 1 tab.« less

Spectral thresholds in macular degeneration.

PubMed Central

Alvarez, S L; King-Smith, P E; Bhargava, S K

1983-01-01

Spectral sensitivities were measured in 18 normal eyes, 9 eyes in patients with senile macular degeneration, 4 patients with Stargardt's juvenile macular degeneration (JMD), and 2 patients without conclusive signs--that is, genetic or morphological abnormalities--to indicate the cause of loss of central vision. Spectral sensitivity, testing for which included measurements on white, yellow, purple, and blue backgrounds, is here used as an aid in differential diagnosis for cases of macular degeneration. PMID:6871142

Infantile Nystagmus and Abnormalities of Conjugate Eye Movements in Down Syndrome.

PubMed

Weiss, Avery H; Kelly, John P; Phillips, James O

2016-03-01

Subjects with Down syndrome (DS) have an anatomical defect within the cerebellum that may impact downstream oculomotor areas. This study characterized gaze holding and gains for smooth pursuit, saccades, and optokinetic nystagmus (OKN) in DS children with infantile nystagmus (IN). Clinical data of 18 DS children with IN were reviewed retrospectively. Subjects with constant strabismus were excluded to remove any contribution of latent nystagmus. Gaze-holding, horizontal and vertical saccades to target steps, horizontal smooth pursuit of drifting targets, OKN in response to vertically or horizontally-oriented square wave gratings drifted at 15°/s, 30°/s, and 45°/s were recorded using binocular video-oculography. Seven subjects had additional optical coherence tomography imaging. Infantile nystagmus was associated with one or more gaze-holding instabilities (GHI) in each subject. The majority of subjects had a combination of conjugate horizontal jerk with constant or exponential slow-phase velocity, asymmetric or symmetric, and either monocular or binocular pendular nystagmus. Six of seven subjects had mild (Grade 0-1) persistence of retinal layers overlying the fovea, similar to that reported in DS children without nystagmus. All subjects had abnormal gains across one or more stimulus conditions (horizontal smooth pursuit, saccades, or OKN). Saccade velocities followed the main sequence. Down syndrome subjects with IN show a wide range of GHI and abnormalities of conjugate eye movements. We propose that these ocular motor abnormalities result from functional abnormalities of the cerebellum and/or downstream oculomotor circuits, perhaps due to extensive miswiring.

Assessing Binocular Interaction in Amblyopia and Its Clinical Feasibility

PubMed Central

Kwon, MiYoung; Lu, Zhong-Lin; Miller, Alexandra; Kazlas, Melanie; Hunter, David G.; Bex, Peter J.

2014-01-01

Purpose To measure binocular interaction in amblyopes using a rapid and patient-friendly computer-based method, and to test the feasibility of the assessment in the clinic. Methods Binocular interaction was assessed in subjects with strabismic amblyopia (n = 7), anisometropic amblyopia (n = 6), strabismus without amblyopia (n = 15) and normal vision (n = 40). Binocular interaction was measured with a dichoptic phase matching task in which subjects matched the position of a binocular probe to the cyclopean perceived phase of a dichoptic pair of gratings whose contrast ratios were systematically varied. The resulting effective contrast ratio of the weak eye was taken as an indicator of interocular imbalance. Testing was performed in an ophthalmology clinic under 8 mins. We examined the relationships between our binocular interaction measure and standard clinical measures indicating abnormal binocularity such as interocular acuity difference and stereoacuity. The test-retest reliability of the testing method was also evaluated. Results Compared to normally-sighted controls, amblyopes exhibited significantly reduced effective contrast (∼20%) of the weak eye, suggesting a higher contrast requirement for the amblyopic eye compared to the fellow eye. We found that the effective contrast ratio of the weak eye covaried with standard clincal measures of binocular vision. Our results showed that there was a high correlation between the 1st and 2nd measurements (r = 0.94, p<0.001) but without any significant bias between the two. Conclusions Our findings demonstrate that abnormal binocular interaction can be reliably captured by measuring the effective contrast ratio of the weak eye and quantitative assessment of binocular interaction is a quick and simple test that can be performed in the clinic. We believe that reliable and timely assessment of deficits in a binocular interaction may improve detection and treatment of amblyopia. PMID:24959842

Unsupervised Gaussian Mixture-Model With Expectation Maximization for Detecting Glaucomatous Progression in Standard Automated Perimetry Visual Fields.

PubMed

Yousefi, Siamak; Balasubramanian, Madhusudhanan; Goldbaum, Michael H; Medeiros, Felipe A; Zangwill, Linda M; Weinreb, Robert N; Liebmann, Jeffrey M; Girkin, Christopher A; Bowd, Christopher

2016-05-01

To validate Gaussian mixture-model with expectation maximization (GEM) and variational Bayesian independent component analysis mixture-models (VIM) for detecting glaucomatous progression along visual field (VF) defect patterns (GEM-progression of patterns (POP) and VIM-POP). To compare GEM-POP and VIM-POP with other methods. GEM and VIM models separated cross-sectional abnormal VFs from 859 eyes and normal VFs from 1117 eyes into abnormal and normal clusters. Clusters were decomposed into independent axes. The confidence limit (CL) of stability was established for each axis with a set of 84 stable eyes. Sensitivity for detecting progression was assessed in a sample of 83 eyes with known progressive glaucomatous optic neuropathy (PGON). Eyes were classified as progressed if any defect pattern progressed beyond the CL of stability. Performance of GEM-POP and VIM-POP was compared to point-wise linear regression (PLR), permutation analysis of PLR (PoPLR), and linear regression (LR) of mean deviation (MD), and visual field index (VFI). Sensitivity and specificity for detecting glaucomatous VFs were 89.9% and 93.8%, respectively, for GEM and 93.0% and 97.0%, respectively, for VIM. Receiver operating characteristic (ROC) curve areas for classifying progressed eyes were 0.82 for VIM-POP, 0.86 for GEM-POP, 0.81 for PoPLR, 0.69 for LR of MD, and 0.76 for LR of VFI. GEM-POP was significantly more sensitive to PGON than PoPLR and linear regression of MD and VFI in our sample, while providing localized progression information. Detection of glaucomatous progression can be improved by assessing longitudinal changes in localized patterns of glaucomatous defect identified by unsupervised machine learning.

Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis.

PubMed

Orès, Raphaëlle; Mohand-Said, Saddek; Dhaenens, Claire-Marie; Antonio, Aline; Zeitz, Christina; Augstburger, Edouard; Andrieu, Camille; Sahel, José-Alain; Audo, Isabelle

2018-05-05

To analyze the retinal structure in patients with X-linked retinoschisis (XLRS) using spectral-domain OCT and to correlate the morphologic findings with visual acuity, electroretinographic results, and patient age. Retrospective, observational study. Data from 52 consecutive male patients with molecularly confirmed XLRS were collected retrospectively. Complete clinical evaluation included best-corrected visual acuity, full-field electroretinography, fundus photography, spectral-domain OCT, and fundus autofluorescence. Spectral-domain OCT images were analyzed to determine full thickness of the retina and tomographic structural changes. Relationships between age, OCT, and visual acuity were assessed. One hundred four eyes of 52 patients were included. The mean age at inclusion was 24±15 years (range, 3-57 years). The best-corrected visual acuity ranged from no light perception to 0.1 logarithm of the minimum angle of resolution (mean, 0.6±0.38 logarithm of the minimum angle of resolution). Macular schisis was found in 88% of eyes and macular atrophy was found in 11% of eyes, whereas peripheral schisis was present in 30% of eyes. A spoke-wheel pattern of high and low intensity was the most frequently observed fundus autofluorescence abnormality (51/94 eyes [54%]). The b-to-a amplitude ratio on bright-flash dark-adapted electroretinography was reduced significantly in 45 of 64 eyes (70%). Spectral-domain OCT was available for 97 eyes and showed foveoschisis in 76 of 97 eyes (78%), parafoveal schisis in 10 of 97 eyes (10%), and foveal atrophy in 11 of 97 eyes (11%). Mean central macular thickness (CMT) was of 373.6±140 μm. Cystoid changes were localized mainly in the inner nuclear layer (85/97 eyes [88%]). Qualitative defects in photoreceptor structures were found in most eyes (79/97 eyes [81%]), and the most frequent abnormality was an interruption of the photoreceptor cell outer segment tips (79/79 eyes [100%]). Older age correlated well with lower CMT (correlation coefficient [CC], -0.44; P < 0.001) and with lower photoreceptor outer segment (PROS) length (CC, -0.42; P < 0.001). Lower visual acuity correlated strongly with lower PROS length (CC, -0.53; P < 0.001). This study underlined the wide variety of clinical features of XLRS. It highlighted the correlation between visual acuity, patient age, and OCT features, emphasizing the relevance of the latter as potential outcome measure in clinical trials. Copyright © 2018 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Computer vision syndrome: a review.

PubMed

Blehm, Clayton; Vishnu, Seema; Khattak, Ashbala; Mitra, Shrabanee; Yee, Richard W

2005-01-01

As computers become part of our everyday life, more and more people are experiencing a variety of ocular symptoms related to computer use. These include eyestrain, tired eyes, irritation, redness, blurred vision, and double vision, collectively referred to as computer vision syndrome. This article describes both the characteristics and treatment modalities that are available at this time. Computer vision syndrome symptoms may be the cause of ocular (ocular-surface abnormalities or accommodative spasms) and/or extraocular (ergonomic) etiologies. However, the major contributor to computer vision syndrome symptoms by far appears to be dry eye. The visual effects of various display characteristics such as lighting, glare, display quality, refresh rates, and radiation are also discussed. Treatment requires a multidirectional approach combining ocular therapy with adjustment of the workstation. Proper lighting, anti-glare filters, ergonomic positioning of computer monitor and regular work breaks may help improve visual comfort. Lubricating eye drops and special computer glasses help relieve ocular surface-related symptoms. More work needs to be done to specifically define the processes that cause computer vision syndrome and to develop and improve effective treatments that successfully address these causes.

Abnormalities in the meibomian glands in patients with oral administration of anticancer combination drug-capsule TS-1(®): a case report.

PubMed

Mizoguchi, Shin; Okada, Yuka; Kokado, Masahide; Saika, Shizuya

2015-10-24

The anticancer TS-1(®) combination capsules of tegafur, gimeracil, and oteracil potassium (Taiho Pharmaceutical Co. Ltd, Japan) causes side effects, i. e., corneal epithelial disorder and dacryostenosis. However, its side effect on meibomian gland had not been reported. We observed morphological changes in the meibomian gland in patients taking TS-1(®) who exhibited punctate corneal epithelial defects to examine if dysfunction of meibomian glands is involved in the corneal epitheliopathy. Patients comprised two males and one female (age, 59-81 years). After starting oral TS-1(®) administration, patients developed subjective symptoms such as decreased visual acuity. Corneal epithelial disorder was seen in all six eyes of the three subjects exhibited, and lacrimal duct disorder was seen in one eye. Furthermore, meibomian gland loss and contraction were observed in all six eyes that exhibited meibomian gland disorder upon examination by using the MeiboPen(®). Results suggested that oral administration of TS-1(®) may cause meibomian gland disorder which potentially affect corneal epithelial homeostasis.

Genetics Home Reference: Lenz microphthalmia syndrome

MedlinePlus

... eyeballs that are abnormally small ( microphthalmia ) or absent (anophthalmia), leading to vision loss or blindness. Other eye ... Lenz dysplasia Lenz syndrome MAA MCOPS1 microphthalmia or anophthalmos with associated anomalies microphthalmia, syndromic 1 Related Information ...

Genetics Home Reference: GM1 gangliosidosis

MedlinePlus

... retina ) gradually deteriorates. An eye abnormality called a cherry-red spot, which can be identified with an ... experience developmental regression but usually do not have cherry-red spots, distinctive facial features, or enlarged organs. ...

Genetics Home Reference: renal coloboma syndrome

MedlinePlus

... the back of the eye ( the retina ). The vision problems caused by these abnormalities can vary depending ... visual problems, while others may have severely impaired vision. Less common features of renal coloboma syndrome include ...

Gestational lead exposure induces developmental abnormalities and up-regulates apoptosis of fetal cerebellar cells in rats.

PubMed

Mousa, Alyaa M; Al-Fadhli, Ameera S; Rao, Muddanna S; Kilarkaje, Narayana

2015-01-01

Lead (Pb), a known environmental toxicant, adversely affects almost all organ systems. In this study, we investigated the effects of maternal lead exposure on fetal rat cerebellum. Female Sprague-Dawley rats were given lead nitrate in drinking water (0, 0.5, and 1%) for two weeks before conception, and during pregnancy. Fetuses were collected by caesarian section on gestational day 21 and observed for developmental abnormalities. The fetal cerebellar sections from control and 1% lead group were stained with cresyl violet. Immunohistochemical expressions of p53, Bax, Bcl-2, and caspase 3 were quantified by AnalySIS image analyzer (Life Science, Germany). Lead exposure induced developmental abnormalities of eyes, ear, limbs, neck and ventral abdominal wall; however, these abnormalities were commonly seen in the 1% lead-treated group. In addition, lead also caused fetal mortality and reduced body growth in both dose groups and reduced brain weight in the 1% lead-treated group. The fetal cerebella from the 1% lead-treated group showed unorganized cerebellar cortical layers, and degenerative changes in granule and Purkinje cells such as the formation of clumps of Nissl granules. An increase in Bax and caspase 3, and a decrease in Bcl-2 (p < 0.05), but not in p53, showed apoptosis of the neurons. In conclusion, gestational lead exposure in rats induces fetal toxicity and developmental abnormalities. The lead exposure also impairs development of cerebellar layers, induces structural changes, and apoptosis in the fetal cerebellar cortex. These results suggest that lead exposure during gestation is extremely toxic to developing cerebellum in rats.

Respiratory symptoms among glass bottle workers--cough and airways irritancy syndrome?

PubMed

Gordon, S B; Curran, A D; Fishwick, D; Morice, A H; Howard, P

1998-10-01

Glass bottle workers have been shown to experience an excess of respiratory symptoms. This work describes in detail the symptoms reported by a cohort of 69 symptomatic glass bottle workers. Symptoms, employment history and clinical investigations including radiology, spirometry and serial peak expiratory flow rate records were retrospectively analyzed from clinical records. The results showed a consistent syndrome of work-related eye, nose and throat irritation followed after a variable period by shortness of breath. The latent interval between starting work and first developing symptoms was typically 4 years (median = 4 yrs; range = 0-28). The interval preceding the development of dysponea was longer and much more variable (median = 16 yrs; range = 3-40). Spirometry was not markedly abnormal in the group but 57% of workers had abnormal serial peak expiratory flow rate charts. Workers in this industry experience upper and lower respiratory tract symptoms consistent with irritant exposure. The long-term functional significance of these symptoms should be formally investigated.

A review on eye movement studies in childhood and adolescent psychiatry.

PubMed

Rommelse, Nanda N J; Van der Stigchel, Stefan; Sergeant, Joseph A

2008-12-01

The neural substrates of eye movement measures are largely known. Therefore, measurement of eye movements in psychiatric disorders may provide insight into the underlying neuropathology of these disorders. Visually guided saccades, antisaccades, memory guided saccades, and smooth pursuit eye movements will be reviewed in various childhood psychiatric disorders. The four aims of this review are (1) to give a thorough overview of eye movement studies in a wide array of psychiatric disorders occurring during childhood and adolescence (attention-deficit/hyperactivity disorder, oppositional deviant disorder and conduct disorder, autism spectrum disorders, reading disorder, childhood-onset schizophrenia, Tourette's syndrome, obsessive compulsive disorder, and anxiety and depression), (2) to discuss the specificity and overlap of eye movement findings across disorders and paradigms, (3) to discuss the developmental aspects of eye movement abnormalities in childhood and adolescence psychiatric disorders, and (4) to present suggestions for future research. In order to make this review of interest to a broad audience, attention will be given to the clinical manifestation of the disorders and the theoretical background of the eye movement paradigms.

Glaucoma in a captive-bred great horned owl (Bubo virginianus virginianus).

PubMed

Rayment, L J; Williams, D

1997-05-03

A captive-bred adult great horned owl (Bubo virginianus virginianus) behaved as though it was bilaterally blind. An ophthalmological examination showed that it had an increased intraocular pressure in both eyes and gonioscopy showed an abnormality of the iridocorneal angles. Retinal changes were also observed. Treatment was not attempted and the owl was euthanased. Histopathology confirmed the abnormal iridocorneal angles, but the exact aetiology of the primary glaucoma was not identified.

Sustained ocular delivery of brimonidine tartrate using ion activated in situ gelling system.

PubMed

Geethalakshmi, A; Karki, Roopa; Jha, Sajal Kumar; Venkatesh, D P; Nikunj, B

2012-03-01

The poor bioavailability and therapeutic response exhibited by conventional eye drops due to rapid precorneal elimination of the drug may be overcome by the use of an in situ gelling systems that are instilled as drops into the eye and undergo a sol-to-gel transition in the cul-de-sac which improves patient compliance as the dosage regimen is one drop of the dosage form twice a day. The loss of drug overcomes due to the immediate gel formation between the eye membrane and the drug being entrapped simultaneously in sol-gel transition in the cul de sac. The present work describes the formulation and evaluation of an ophthalmic delivery system of an antiglaucomal agent, brimonidine tartrate based on the concept of ion-activated in situ gelation. Gelrite was used as the gelling agent, which gels in the presence of mono or divalent cations present in the lacrimal fluid. The formulations were evaluated for clarity, pH measurement, gelling capacity, drug content estimation, rheological study, in-vitro diffusion study, antibacterial activity, isotonicity testing, eye irritation testing. In the developed formulations Gelrite Brimonidine-3 (GB3) exhibited sustained release of drug from formulation over a period of 8 hrs thus increasing residence time of the drug, non-irritating with no ocular damage or abnormal clinical signs to the cornea, iris or conjunctiva, stable and sterile. These results demonstrate that the developed system is an alternative to conventional ophthalmic drops, with better patient compliance, and is industrially oriented and economical.

Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis.

PubMed

Chang, Bo

2016-01-01

Leber's congenital amaurosis (LCA) is an inherited retinal degenerative disease characterized by severe loss of vision in the first year of life. In addition to early vision loss, a variety of other eye-related abnormalities including roving eye movements, deep-set eyes, and sensitivity to bright light also occur with this disease. Many animal models of LCA are available and the study them has led to a better understanding of the pathology of the disease, and has led to the development of therapeutic strategies aimed at curing or slowing down LCA. Mouse models, with their well-developed genetics and similarity to human physiology and anatomy, serve as powerful tools with which to investigate the etiology of human LCA. Such mice provide reproducible, experimental systems for elucidating pathways of normal development, function, designing strategies and testing compounds for translational research and gene-based therapies aimed at delaying the diseases progression. In this chapter, I describe tools used in the discovery and evaluation of mouse models of LCA including a Phoenix Image-Guided Optical Coherence Tomography (OCT) and a Diagnosys Espion Visual Electrophysiology System. Three mouse models are described, the rd3 mouse model for LCA12 and LCA1, the rd12 mouse model for LCA2, and the rd16 mouse model for LCA10.

Genome-Wide Analysis Points to Roles for Extracellular Matrix Remodeling, the Visual Cycle, and Neuronal Development in Myopia

PubMed Central

Kiefer, Amy K.; Tung, Joyce Y.; Do, Chuong B.; Hinds, David A.; Mountain, Joanna L.; Francke, Uta; Eriksson, Nicholas

2013-01-01

Myopia, or nearsightedness, is the most common eye disorder, resulting primarily from excess elongation of the eye. The etiology of myopia, although known to be complex, is poorly understood. Here we report the largest ever genome-wide association study (45,771 participants) on myopia in Europeans. We performed a survival analysis on age of myopia onset and identified 22 significant associations (), two of which are replications of earlier associations with refractive error. Ten of the 20 novel associations identified replicate in a separate cohort of 8,323 participants who reported if they had developed myopia before age 10. These 22 associations in total explain 2.9% of the variance in myopia age of onset and point toward a number of different mechanisms behind the development of myopia. One association is in the gene PRSS56, which has previously been linked to abnormally small eyes; one is in a gene that forms part of the extracellular matrix (LAMA2); two are in or near genes involved in the regeneration of 11-cis-retinal (RGR and RDH5); two are near genes known to be involved in the growth and guidance of retinal ganglion cells (ZIC2, SFRP1); and five are in or near genes involved in neuronal signaling or development. These novel findings point toward multiple genetic factors involved in the development of myopia and suggest that complex interactions between extracellular matrix remodeling, neuronal development, and visual signals from the retina may underlie the development of myopia in humans. PMID:23468642

Classification of iRBD and Parkinson's disease patients based on eye movements during sleep.

PubMed

Christensen, Julie A E; Koch, Henriette; Frandsen, Rune; Kempfner, Jacob; Arvastson, Lars; Christensen, Soren R; Sorensen, Helge B D; Jennum, Poul

2013-01-01

Patients suffering from the sleep disorder idiopathic rapid-eye-movement sleep behavior disorder (iRBD) have been observed to be in high risk of developing Parkinson's disease (PD). This makes it essential to analyze them in the search for PD biomarkers. This study aims at classifying patients suffering from iRBD or PD based on features reflecting eye movements (EMs) during sleep. A Latent Dirichlet Allocation (LDA) topic model was developed based on features extracted from two electrooculographic (EOG) signals measured as parts in full night polysomnographic (PSG) recordings from ten control subjects. The trained model was tested on ten other control subjects, ten iRBD patients and ten PD patients, obtaining a EM topic mixture diagram for each subject in the test dataset. Three features were extracted from the topic mixture diagrams, reflecting "certainty", "fragmentation" and "stability" in the timely distribution of the EM topics. Using a Naive Bayes (NB) classifier and the features "certainty" and "stability" yielded the best classification result and the subjects were classified with a sensitivity of 95 %, a specificity of 80% and an accuracy of 90 %. This study demonstrates in a data-driven approach, that iRBD and PD patients may exhibit abnorm form and/or timely distribution of EMs during sleep.

Ocular static and dynamic light scattering: a noninvasive diagnostic tool for eye research and clinical practice

NASA Technical Reports Server (NTRS)

Ansari, Rafat R.

2004-01-01

The noninvasive techniques of static and dynamic light scattering are emerging as valuable diagnostic tools for the early detection of ocular and systemic diseases. These include corneal abnormalities, pigmentary dispersion syndrome, glaucoma, cataract, diabetic vitreopathy, and possibly macular degeneration. Systemic conditions such as diabetes and possibly Alzheimer's disease can potentially be detected early via ocular tissues. The current state of development of these techniques for application to ophthalmic research and ultimately clinical practice is reviewed. (c) 2004 Society of Photo-Optical Instrumentation Engineers.

Association of fluorescein anterior corneal mosaic and corneal K-structures by in vivo laser confocal microscopy in patients with keratoconus

PubMed Central

Kobayashi, Akira; Yokogawa, Hideaki; Mori, Natsuko; Masaki, Toshinori; Sugiyama, Kazuhisa

2017-01-01

Objective To report the in vivo laser confocal microscopy findings of corneas with keratoconus, with special attention to abnormality of Bowman’s layer and sub-Bowman’s fibrous structures (Kobayashi-structures [K-structures]). Methods Sixteen keratoconic eyes in 8 consecutive patients with keratoconus (4 males, 4 females, mean age, 41.1 years) were included in this study. Slit-lamp biomicroscopic photos were taken with or without fluorescein staining. The existence of anterior corneal mosaic (ACM) after eyelid rubbing under fluorescein staining was documented. In vivo laser confocal microscopic examinations were performed for all patients in both the central cone and the peripheral cornea to examine the existence of K-structures. Results According to the Amsler–Krumeich scale, the eyes were graded as follows: stage 1 (n=3), stage 2 (n=1), stage 3 (n=1), and stage 4 (n=11). ACM was observed in 7 eyes (61.1%) in the cone area and 16 eyes (100%) in the peripheral cornea among all keratoconic eyes enrolled in this study. In addition, K-structures were observed in the 7 eyes (61.1%) and 16 eyes (100%) in the peripheral cornea among all keratoconic eyes. The presence of the K-structures was completely matched (100%) with the presence of ACM in both the central cone and the peripheral cornea. In 11 eyes with stage 4 keratoconus, ACM and K-structure was absent in 9 eyes (81.8%) in the cone area. On the contrary, in 5 eyes with mild-to-moderate keratoconus (grade 1 to 3), ACM and K-structure was present in all eyes (100%) in the cone area. The absent ratio of ACM and K-structures in the cone area was significantly higher in stage 4 severe keratoconus compared to mild-to-moderate keratoconus (grade 1 to 3) (Fisher, P=0.005). Conclusion The existence of ACM and K-structures in both the central cone and the peripheral cornea showed perfect accord in patients with keratoconus, indicating a strong association of ACM and K-structures in patients with keratoconus. With the progress of the keratoconus, it seemed that ACM and K-structure progressively disappeared, suggesting Bowman’s layer abnormalities due to keratoconus. Further study in larger groups of patients with keratoconus is required to fully understand the significance of ACM/K-structures in keratoconic eyes and their association with Bowman’s layer. PMID:28794613

Acute Zonal Cone Photoreceptor Outer Segment Loss

PubMed Central

Sandhu, Harpal S.; Serrano, Leona W.; Traband, Anastasia; Lau, Marisa K.; Adamus, Grazyna; Avery, Robert A.

2017-01-01

Importance The diagnostic path presented narrows down the cause of acute vision loss to the cone photoreceptor outer segment and will refocus the search for the cause of similar currently idiopathic conditions. Objective To describe the structural and functional associations found in a patient with acute zonal occult photoreceptor loss. Design, Setting, and Participants A case report of an adolescent boy with acute visual field loss despite a normal fundus examination performed at a university teaching hospital. Main Outcomes and Measures Results of a complete ophthalmic examination, full-field flash electroretinography (ERG) and multifocal ERG, light-adapted achromatic and 2-color dark-adapted perimetry, and microperimetry. Imaging was performed with spectral-domain optical coherence tomography (SD-OCT), near-infrared (NIR) and short-wavelength (SW) fundus autofluorescence (FAF), and NIR reflectance (REF). Results The patient was evaluated within a week of the onset of a scotoma in the nasal field of his left eye. Visual acuity was 20/20 OU, and color vision was normal in both eyes. Results of the fundus examination and of SW-FAF and NIR-FAF imaging were normal in both eyes, whereas NIR-REF imaging showed a region of hyporeflectance temporal to the fovea that corresponded with a dense relative scotoma noted on light-adapted static perimetry in the left eye. Loss in the photoreceptor outer segment detected by SD-OCT co-localized with an area of dense cone dysfunction detected on light-adapted perimetry and multifocal ERG but with near-normal rod-mediated vision according to results of 2-color dark-adapted perimetry. Full-field flash ERG findings were normal in both eyes. The outer nuclear layer and inner retinal thicknesses were normal. Conclusions and Relevance Localized, isolated cone dysfunction may represent the earliest photoreceptor abnormality or a distinct entity within the acute zonal occult outer retinopathy complex. Acute zonal occult outer retinopathy should be considered in patients with acute vision loss and abnormalities on NIR-REF imaging, especially if multimodal imaging supports an intact retinal pigment epithelium and inner retina but an abnormal photoreceptor outer segment. PMID:28384671

Pseudo-Fovea Formation After Gene Therapy for RPE65-LCA

PubMed Central

Cideciyan, Artur V.; Aguirre, Geoffrey K.; Jacobson, Samuel G.; Butt, Omar H.; Schwartz, Sharon B.; Swider, Malgorzata; Roman, Alejandro J.; Sadigh, Sam; Hauswirth, William W.

2015-01-01

Purpose. The purpose of this study was to evaluate fixation location and oculomotor characteristics of 15 patients with Leber congenital amaurosis (LCA) caused by RPE65 mutations (RPE65-LCA) who underwent retinal gene therapy. Methods. Eye movements were quantified under infrared imaging of the retina while the subject fixated on a stationary target. In a subset of patients, letter recognition under retinal imaging was performed. Cortical responses to visual stimulation were measured using functional magnetic resonance imaging (fMRI) in two patients before and after therapy. Results. All patients were able to fixate on a 1° diameter visible target in the dark. The preferred retinal locus of fixation was either at the anatomical fovea or at an extrafoveal locus. There were a wide range of oculomotor abnormalities. Natural history showed little change in oculomotor abnormalities if target illuminance was increased to maintain target visibility as the disease progressed. Eleven of 15 study eyes treated with gene therapy showed no differences from baseline fixation locations or instability over an average of follow-up of 3.5 years. Four of 15 eyes developed new pseudo-foveas in the treated retinal regions 9 to 12 months after therapy that persisted for up to 6 years; patients used their pseudo-foveas for letter identification. fMRI studies demonstrated that preservation of light sensitivity was restricted to the cortical projection zone of the pseudo-foveas. Conclusions. The slow emergence of pseudo-foveas many months after the initial increases in light sensitivity points to a substantial plasticity of the adult visual system and a complex interaction between it and the progression of underlying retinal disease. The visual significance of pseudo-foveas suggests careful consideration of treatment zones for future gene therapy trials. (ClinicalTrials.gov number, NCT00481546.) PMID:25537204

Topical fundus pulsation measurement in patients with active central serous chorioretinopathy.

PubMed

Tittl, Michael; Polska, Elzbieta; Kircher, Karl; Kruger, Andreas; Maar, Noemi; Stur, Michael; Schmetterer, Leopold

2003-07-01

To determine regional pulsatile choroidal blood flow using laser interferometry in patients with active central serous chorioretinopathy (CSC). The study compared an equally sized age-, sex-, and refractive error-matched control group of healthy volunteers obtained from the Department of Clinical Pharmacology with 18 consecutive patients who had newly diagnosed active, unilateral CSC obtained from the University of Vienna Eye Clinic, Vienna, Austria. Regional fundus pulsation amplitude as assessed using laser interferometry. The median age of the patients was 40 years; the male-female ratio was 16:2. Foveal fundus pulsation amplitude was significantly higher in eyes with CSC (mean [SD], 5.5 [1.7] micro m) than in the eyes of the control subjects (4.1 [1.1] micro m; P =.005). In addition, eyes with CSC had a significantly higher variability in fundus pulsation amplitude (mean [SD], 48% [20%]) assessed at different fundus locations around the leak than the controls did (20% [9%]; P<.001). To our knowledge, this is the first study that measures topical fundus pulsations in patients who have active, unilateral CSC. These data indicate a generally increased foveal pulsatile choroidal blood flow and an abnormal distribution of fundus pulsation amplitude in the area close to the leak. Whether these findings reinforce the concept that choroidal perfusion abnormalities play a role in the pathogenesis of CSC remains to be established.

Down syndrome--genetic and nutritional aspects of accompanying disorders.

PubMed

Mazurek, Dominika; Wyka, Joanna

2015-01-01

Down syndrome (DS) is one of the more commonly occurring genetic disorders, where mental retardation is combined with nutritional diseases. It is caused by having a third copy of chromosome 21, and there exist 3 forms; Simple Trisomy 21, Translocation Trisomy and Mosaic Trisomy. Symptoms include intellectual disability/mental retardation, early onset of Alzheimer's disease and the appearance of various phenotypic features such as narrow slanted eyes, flat nose and short stature. In addition, there are other health problems throughout the body, consisting in part of cardiac defects and thyroid function abnormalities along with nutritional disorders (ie. overweight, obesity, hypercholesterolemia and deficiencies of vitamins and minerals). Those suffering DS have widespread body frame abnormalities and impaired brain development and function; the latter leading to impaired intellectual development. Many studies indicate excessive or deficient nutrient uptakes associated with making inappropriate foodstuff choices, food intolerance, (eg. celiac disease) or malabsorption. DS persons with overweight or obesity are linked with a slow metabolic rate, abnormal blood leptin concentrations and exhibit low levels of physical activity. Vitamin B group deficiencies and abnormal blood homocysteine levels decrease the rate of intellectual development in DS cases. Zinc deficiencies result in short stature, thyroid function disorders and an increased appetite caused by excessive supplementation. Scientific advances in the research and diagnosis of DS, as well as preventing any associated conditions, have significantly increased life expectancies of those with this genetic disorder. Early dietary interventions by parents or guardians of DS children afford an opportunity for decreasing the risk or delaying some of the DS associated conditions from appearing, thus beneficially impacting on their quality of life.

Amblyopia and the binocular approach to its therapy.

PubMed

Hess, Robert F; Thompson, Benjamin

2015-09-01

There is growing evidence that abnormal binocular interactions play a key role in amblyopia. In particular, stronger suppression of the amblyopic eye has been associated with poorer amblyopic eye visual acuity and a new therapy has been described that directly targets binocular function and has been found to improve both monocular and binocular vision in adults and children with amblyopia. Furthermore, non-invasive brain stimulation techniques that alter excitation and inhibition within the visual cortex have been shown to improve vision in the amblyopic eye. The aim of this review is to summarize this previous work and interpret the therapeutic effects of binocular therapy and non-invasive brain stimulation in the context of three potential neural mechanisms; active inhibition of signals from the amblyopic eye, attenuation of information from the amblyopic eye and metaplasticity of synaptic long term potentiation and long term depression. Copyright © 2015. Published by Elsevier Ltd.

Clinical analysis of anti-Ma2-associated encephalitis.

PubMed

Dalmau, Josep; Graus, Francesc; Villarejo, Alberto; Posner, Jerome B; Blumenthal, Deborah; Thiessen, Brian; Saiz, Albert; Meneses, Patricio; Rosenfeld, Myrna R

2004-08-01

Increasing experience indicates that anti-Ma2-associated encephalitis differs from classical paraneoplastic limbic or brainstem encephalitis, and therefore may be unrecognized. To facilitate its diagnosis we report a comprehensive clinical analysis of 38 patients with anti-Ma2 encephalitis. Thirty-four (89%) patients presented with isolated or combined limbic, diencephalic or brainstem dysfunction, and four with other syndromes. Considering the clinical and MRI follow-up, 95% of the patients developed limbic, diencephalic or brainstem encephalopathy. Only 26% had classical limbic encephalitis. Excessive daytime sleepiness affected 32% of the patients, sometimes with narcolepsy-cataplexy and low CSF hypocretin. Additional hormonal or MRI abnormalities indicated diencephalic-hypothalamic involvement in 34% of the patients. Eye movement abnormalities were prominent in 92% of the patients with brainstem dysfunction, but those with additional limbic or diencephalic deficits were most affected; 60% of these patients had vertical gaze paresis that sometimes evolved to total external ophthalmoplegia. Three patients developed atypical parkinsonism, and two a severe hypokinetic syndrome with a tendency to eye closure and dramatic reduction of verbal output. Neurological symptoms preceded the tumour diagnosis in 62% of the patients. Brain MRI abnormalities were present in 74% of all patients and 89% of those with limbic or diencephalic dysfunction. Among the 34 patients with cancer, 53% had testicular germ-cell tumours. Two patients without evidence of cancer had testicular microcalcification and one cryptorchidism, risk factors for testicular germ-cell tumours. After neurological syndrome development, 17 of 33 patients received oncological treatment (nine also immunotherapy), 10 immunotherapy alone, and six no treatment. Overall, 33% of the patients had neurological improvement, three with complete recovery; 21% had long-term stabilization, and 46% deteriorated. Features significantly associated with improvement or stabilization included, male gender, age <45 years, testicular tumour with complete response to treatment, absence of anti-Ma1 antibodies and limited CNS involvement. Immunosuppression was not found to be associated with improvement but was clearly effective in some patients. Fifteen patients (10 women, five men) had additional antibodies to Ma1. These patients were more likely to have tumours other than testicular cancer and to develop ataxia, and had a worse prognosis than patients with only anti-Ma2 antibodies (two women, 21 men); 67% of deceased patients had anti-Ma1 antibodies. Anti-Ma2 encephalitis (with or without anti-Ma1 antibodies) should be suspected in patients with limbic, diencephalic or brainstem dysfunction, MRI abnormalities in these regions, and inflammatory changes in the CSF. In young male patients, the primary tumour is usually in the testis, in other patients the leading neoplasm is lung cancer.

Intravitreal sirolimus for the treatment of geographic atrophy: results of a phase I/II clinical trial.

PubMed

Petrou, Philip A; Cunningham, Denise; Shimel, Katherine; Harrington, Molly; Hammel, Keri; Cukras, Catherine A; Ferris, Frederick L; Chew, Emily Y; Wong, Wai T

2014-12-18

To investigate the safety and effects of intravitreal sirolimus for the potential treatment of geographic atrophy (GA). The study was a single-center, open-label, phase I/II trial enrolling six participants with bilateral GA treated with intravitreal sirolimus in only one randomly assigned eye, with the fellow eye as control. The primary efficacy outcome measure was the change in total GA area from baseline on color fundus photography (CFP); secondary outcomes included changes in GA area on fundus autofluorescence (FAF), visual acuity, central retinal thickness (CRT), and macular sensitivity from baseline. Although no systemic adverse events were attributed to treatment, two of six participants had ocular adverse events that were possibly associated. The treated eye of one participant developed abnormal paralesional changes on FAF that were associated with accelerated retinal thinning. This accelerated retinal thinning was also seen in the treated eye of a second participant. Because of concern that these events were associated with treatment, treatment was suspended. Comparisons of treated and fellow eyes for change in visual acuity, change in GA area, and change in CRT showed no evidence of treatment benefit and generally favored the untreated fellow eye. While paralesional FAF changes and rapid retinal thinning observed are potentially part of the natural course of GA, they may possibly be related to treatment. No general evidence of anatomical or functional benefit was detected in treated eyes. Further data on intravitreal sirolimus for GA treatment will be available from a larger phase II trial. (ClinicalTrials.gov number, NCT01445548.). Copyright 2015 The Association for Research in Vision and Ophthalmology, Inc.

Challenges in sleep stage R scoring in patients with autosomal dominant spinocerebellar ataxias (SCA1, SCA2 and SCA3) and oculomotor abnormalities: a whole night polysomnographic evaluation.

PubMed

Seshagiri, Doniparthi Venkata; Sasidharan, Arun; Kumar, Gulshan; Pal, Pramod Kumar; Jain, Sanjeev; Kutty, Bindu M; Yadav, Ravi

2018-02-01

Spinocerebellar ataxias are progressive neurodegenerative disorders characterized by progressive cerebellar features with additional neuro-axis involvement. Oculomotor abnormality is one of the most frequent manifestations. This study was done to assess the polysomnographic abnormalities in patients with Spinocerebellar ataxia (SCA1, SCA2 and SCA3) and also to evaluate whether oculomotor abnormalities interfere with sleep stage R scoring. The study was carried out using 36 genetically positive SCA patients. All patients underwent neurological examination with special focus on oculomotor function (optokinetic nystagmus-OKN and extraocular movement restriction-EOM). The sleep quality was measured with Pittsburgh Sleep Quality Index (PSQI) and Epworth Sleepiness Scale (ESS). Disease severity was assessed with International Cooperative Ataxia Rating Scale (ICARS). All the patients underwent over-night video-polysomnography (VPSG). Out of 36 patients studied, the data of 34 patients [SCA1 (n = 12), SCA2 (n = 13), SCA3 (n = 9)] were used for final analysis. Patients from SCA1, SCA2, and SCA3 category did not show significant differences in age and diseases severity (ICARS). All patients had vertical OKN impairment. Oculomotor impairment was higher in SCA2 patients. Sleep macro-architecture analysis showed absent stage R sleep, predominantly in SCA2 (69%) followed by SCA3 (44%) and SCA1 (8%). Patients showed a strong negative correlation of stage R sleep percentage with disease severity and oculomotor dysfunction. Voluntary saccadic eye movement velocity and rapid eye movements (REMs) in sleep are strongly correlated. The more severe the saccadic velocity impairment, the less likely was it to generate REMs (rapid eye movements) during stage R. Accordingly 69% of SCA2 patients with severe occulomotor impairments showed absent stage R as per the AASM sleep scoring. We presume that the impaired REMs generation in sleep could be due to oculomotor abnormality and has resulted in spuriously low or absent stage R sleep percentage in SCA patients with conventional VPSG scoring rules. The present study recommends the modification of AASM scoring rules for stage R in patients with oculomotor abnormalities. Copyright © 2017 Elsevier B.V. All rights reserved.

Environmental Enrichment Promotes Plasticity and Visual Acuity Recovery in Adult Monocular Amblyopic Rats

PubMed Central

Bonaccorsi, Joyce; Cenni, Maria Cristina; Sale, Alessandro; Maffei, Lamberto

2012-01-01

Loss of visual acuity caused by abnormal visual experience during development (amblyopia) is an untreatable pathology in adults. In some occasions, amblyopic patients loose vision in their better eye owing to accidents or illnesses. While this condition is relevant both for its clinical importance and because it represents a case in which binocular interactions in the visual cortex are suppressed, it has scarcely been studied in animal models. We investigated whether exposure to environmental enrichment (EE) is effective in triggering recovery of vision in adult amblyopic rats rendered monocular by optic nerve dissection in their normal eye. By employing both electrophysiological and behavioral assessments, we found a full recovery of visual acuity in enriched rats compared to controls reared in standard conditions. Moreover, we report that EE modulates the expression of GAD67 and BDNF. The non invasive nature of EE renders this paradigm promising for amblyopia therapy in adult monocular people. PMID:22509358

Automated analysis of connected speech reveals early biomarkers of Parkinson's disease in patients with rapid eye movement sleep behaviour disorder.

PubMed

Hlavnička, Jan; Čmejla, Roman; Tykalová, Tereza; Šonka, Karel; Růžička, Evžen; Rusz, Jan

2017-02-02

For generations, the evaluation of speech abnormalities in neurodegenerative disorders such as Parkinson's disease (PD) has been limited to perceptual tests or user-controlled laboratory analysis based upon rather small samples of human vocalizations. Our study introduces a fully automated method that yields significant features related to respiratory deficits, dysphonia, imprecise articulation and dysrhythmia from acoustic microphone data of natural connected speech for predicting early and distinctive patterns of neurodegeneration. We compared speech recordings of 50 subjects with rapid eye movement sleep behaviour disorder (RBD), 30 newly diagnosed, untreated PD patients and 50 healthy controls, and showed that subliminal parkinsonian speech deficits can be reliably captured even in RBD patients, which are at high risk of developing PD or other synucleinopathies. Thus, automated vocal analysis should soon be able to contribute to screening and diagnostic procedures for prodromal parkinsonian neurodegeneration in natural environments.

[Endovascular treatment of carotid-cavernous fistula type A with platinium coils].

PubMed

Culafić, Slobodan; Juszkat, Robert; Rusović, Sinisa; Stefanović, Dara; Minić, Ljubodrag; Spaić, Milan

2008-12-01

Carotid-cavernous fistulas are abnormal communications between carotid arteries or their branches and the cavernous system caused mostly by trauma. Posttraumatic fistulas represent 70% of all carotid-cavernous fistulas and they are mostly high-flow shunts (type A). This type gives characteristic eye symptoms. This paper presents a 44-year old male patient with carotid-cavernous fistula as a result of penetrating head injury. In clinical presentation the patient had exophthalmos, conjunctival chemosis and weakening of vision on the right eye, headache and diplopia. Digital subtracted angiography showed high-flow carotid-cavernous fistula, which was vascularised from the left carotid artery and from vertebrobasilar artery. Endovascular embolization with platinum coils was performed through the transarterial route (endoarterial approach). Check angiogram confirmed that the fistula was closed and that no new communications developed. Embolization of complex carotid-cavernous fistula type A was successfully performed with platinum coils by endovascular approach.

The anatomy and physiology of the ocular motor system.

PubMed

Horn, Anja K E; Leigh, R John

2011-01-01

Accurate diagnosis of abnormal eye movements depends upon knowledge of the purpose, properties, and neural substrate of distinct functional classes of eye movement. Here, we summarize current concepts of the anatomy of eye movement control. Our approach is bottom-up, starting with the extraocular muscles and their innervation by the cranial nerves. Second, we summarize the neural circuits in the pons underlying horizontal gaze control, and the midbrain connections that coordinate vertical and torsional movements. Third, the role of the cerebellum in governing and optimizing eye movements is presented. Fourth, each area of cerebral cortex contributing to eye movements is discussed. Last, descending projections from cerebral cortex, including basal ganglionic circuits that govern different components of gaze, and the superior colliculus, are summarized. At each stage of this review, the anatomical scheme is used to predict the effects of lesions on the control of eye movements, providing clinical-anatomical correlation. Copyright © 2011 Elsevier B.V. All rights reserved.

Holistic component of image perception in mammogram interpretation: gaze-tracking study.

PubMed

Kundel, Harold L; Nodine, Calvin F; Conant, Emily F; Weinstein, Susan P

2007-02-01

To test the hypothesis that rapid and accurate performance of the proficient observer in mammogram interpretation involves a shift in the mechanism of image perception from a relatively slow search-to-find mode to a relatively fast holistic mode. This HIPAA-compliant study had institutional review board approval, and participant informed consent was obtained; patient informed consent was not required. The eye positions of three full-time mammographers, one attending radiologist, two mammography fellows, and three radiology residents were recorded during the interpretation of 20 normal and 20 subtly abnormal mammograms. The search time required to first locate a cancer, as well as the initial eye scan path, was determined and compared with diagnostic performance as measured with receiver operating characteristic (ROC) analysis. The median time for all observers to fixate a cancer, regardless of the decision outcome, was 1.13 seconds, with a range of 0.68 second to 3.06 seconds. Even though most of the lesions were fixated, recognition of them as cancerous ranged from 85% (17 of 20) to 10% (two of 20), with corresponding areas under the ROC curve of 0.87-0.40. The ROC index of detectability, d(a), was linearly related to the time to first fixate a cancer with a correlation (r(2)) of 0.81. The rapid initial fixation of a true abnormality is evidence for a global perceptual process capable of analyzing the visual input of the entire retinal image and pinpointing the spatial location of an abnormality. It appears to be more highly developed in the most proficient observers, replacing the less efficient initial search-to-find strategies. (c) RSNA, 2007.

[Abnormal of tear lipid layer and recent advances in clinical study of dry eye].

PubMed

Xiao, Xin-Ye; Liu, Zu-Guo

2012-03-01

Dry eye is a common disease in the ophthalmological clinic, which is related to the dysfunction of tear film. The tear film is composed of lipid layer, aqueous layer and mucin layer (or lipid layer, aqueous/mucin layer). The lipid of the outmost layer derived from Meibomian gland and distributed on the tear film after blinking can decrease the evaporation and stabilize the tear film. The thickness, quality, and distribution of lipid layer are impaired in many dry eye patients, hence restoring the physiological function of lipid layer may be crucial for the treatment of this kind of dry eye. The lipid artificial tears manifest great effects on increasing lipid layer thickness, stabilizing tear film, improving Meibomian gland dysfunction, and promoting tear film distribution.

[Treatment options for nystagmus].

PubMed

Tegetmeyer, H

2015-02-01

The goal of treatment for nystagmus is to reduce or to abolish the typical symptoms associated with nystagmus. These are (i) reduction of visual acuity (and amblyopia in infantile nystagmus), (ii) abnormal head posture (with possible secondary changes of cervical spine) and (iii) oscillopsia (often connected with vertigo and disorders of gait and orientation). Treatment strategies include pharmacological treatment, surgical therapy and optical devices. Choice of treatment depends on the type of nystagmus and its characteristics. The following surgical procedures were successfully used as treatment of selected symptoms: (i) unilateral recess-resect surgery of the dominant eye in infantile esotropia with latent nystagmus for the relief of abnormal head posture, (ii) Kestenbaum operation of both eyes in infantile nystagmus syndrome with excentric null zone and abnormal head posture, (iii) recess-resect surgery to produce artificial exophoria in infantile nystagmus syndrome. PHARMACOLOGICAL TREATMENT: Depending on the pathophysiology of different types of nystagmus, several drugs were effective in clinical application (off-label use): (i) gabapentin (non-selective GABAergic and anti-glutamatergic effect): up to 2400 mg/d in infantile nystagmus, acquired pendular nystagmus and oculopalatal tremor, (ii) nemantine (anti-glutamatergic effect): dosage up to 40 mg/d in infantile nystagmus, also in acquired pendular nystagmus and oculopalatal tremor, (iii) baclofen (GABA-B-receptor agonist): 3 × 5-10 mg/d in periodic alternating nystagmus and in upbeat nystagmus, (iv) 4-aminopyridine (non-selective blocker of voltage-gated potassium channels): 3 × 5 mg/d or 1-2 × 10 mg Fampridin in downbeat nystagmus and upbeat nystagmus, (v) acetazolamide (carbonic anhydrase inhibitor): in hereditary episodic ataxia type 2. OPTICAL DEVICES: (i) Contact lenses are used in infantile nystagmus in order to overcome negative effects of eye glasses in abnormal head posture, lateral gaze, and higher refractive errors, (ii) spectacle prisms are useful to induce an artificial exophoria (base-out prisms) or to shift an excentric null zone (base in direction of head posture) of infantile nystagmus with abnormal head posture, (iii) low vision aids may be necessary and should be prescribed according to magnification requirements. Georg Thieme Verlag KG Stuttgart · New York.

The clinical characteristics and new classification of sticky eyelid syndrome in East Asian patients.

PubMed

Chang, Minwook; Lee, Hwa; Park, Min Soo; Baek, Sehyun

2014-12-01

The aim of this study was to demonstrate the characteristics of sticky eyelid syndrome (SES) and to suggest a modified definition and new classification of the disease in relation to the severity of the syndrome in East Asian patients. Forty-four eyes of 31 patients with sticky eyelid syndrome were included in this study. The medical records of patients who were diagnosed with sticky eyelid syndrome were retrospectively reviewed. Sticky eyelid syndrome was defined as an abnormal adhesion between the upper and lower eyelids during blinking. We divided the subjects into four grades according to the severity of the disease. Among 31 patients, there were 10 men and 21 women. The mean age of patients was 62.5 years. A total of 13 patients had SES bilaterally. All patients had meibomian gland dysfunction (MGD). Thirty-three eyes had dermatochalasis, and 30 eyes had involutional ptosis. Horizontal lower lid laxity was observed in 23 eyes, and reverse ptosis found in 15 eyes. Patients were classified into four groups as follows: G1: 11 (25%), G2: 24 (54.5%), G3: 6 (13.6%) and G4: 3 eyes (6.8%). Patients in Grade 1 tended to improve only with medical treatment for MGD. However, surgical management was necessary for patients in Grades 3 and 4. Meibomian gland dysfunction is a fundamental risk factor for developing sticky eyelid syndrome. Further, combined upper lid ptosis or lower lid laxity may be aggravating factors. According to the grading, medical or surgical management can be chosen. © 2014 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

New screening methods for donor eye-bank eyes.

PubMed

Terry, M A; Ousley, P J

1999-07-01

Current methods of screening donor eyes for corneal transplantation are not always effective in excluding corneas with abnormal topography. We used the Orbscan to determine whether corneal-thickness maps could be used as a technique for donor tissue screening. Forty eye-bank eyes were measured with the Orbscan, and a corneal-thickness map was generated. Average central pachymetry measurements from each map were compared with the thinnest midperipheral thickness reading. Two eyes from a donor who had photorefractive keratectomy (PRK) and two eyes from a donor with keratoconus were then compared with the normal donor eye results. The average difference between the thinnest midperipheral pachymetry and the central pachymetry in the control group was 0.040 +/- 0.026 mm. The eyes from the donor with PRK showed larger disparities between the central and midperipheral thicknesses because of the thinned central cornea, with differences of 0.154 mm in the right eye and 0.106 mm in the left eye. The eyes from the donor with keratoconus had midperipheral corneas that were thinner than the center, indicating eccentric, ectatic cones. The differences in thickness between the center and midperiphery in the eyes from the donor with PRK and the donor with keratoconus differed from the control group by >2 SD. Diseases or surgery that affect the relationship between the central and midperipheral corneal thickness may be screened through Orbscan pachymetry mapping with comparison with a normal range.

[The prevalence and influencing factors of eye diseases for IT industry video operation workers].

PubMed

Zhao, Liang-liang; Yu, Yan-yan; Yu, Wen-lan; Xu, Ming; Cao, Wen-dong; Zhang, Hong-bing; Han, Lei; Zhang, Heng-dong

2013-05-01

To investigate the situation of video-contact and eye diseases for IT industry video operation workers, and to analyze the influencing factors, providing scientific evidence for the make of health-strategy for IT industry video operation workers. We take the random cluster sampling method to choose 190 IT industry video operation workers in a city of Jiangsu province, analyzing the relations between video contact and eye diseases. The daily video contact time of IT industry video operation workers is 6.0-16.0 hours, whose mean value is (I 0.1 ± 1.8) hours. 79.5% of workers in this survey wear myopic lens, 35.8% of workers have a rest during their working, and 14.2% of IT workers use protective products when they feel unwell of their eyes. Following the BUT experiment, 54.7% of IT workers have the normal examine results of hinoculus, while 45.3% have the abnormal results of at least one eye. Simultaneously, 54.7% workers have the normal examine results of hinoculus in the SIT experiment, however, 42.1% workers are abnormal. According to the broad linear model, there are six influencing factors (daily mean time to video, distance between eye and displayer, the frequency of rest, whether to use protective products when they feel unwell of their eyes, the type of dis player and daily time watching TV.) have significant influence on vision, having statistical significance. At the same time, there are also six influencing factors (whether have a rest regularly,sex, the situation of diaphaneity for cornea, the shape of pupil, family history and whether to use protective products when they feel unwell of their eyes.) have significant influence on the results of BUT experiment,having statistical significance. However, there are seven influencing factors (the type of computer, sex, the shape of pupil, the situation of diaphaneity for cornea, the angle between displayer and workers' sight, the type of displayer and the height of operating floor.) have significant influence on the results of SIT experiment,having statistical significance. The health-situation of IT industry video operation workers' eye is not optimistic, most of workers are lack of protection awareness; we need to strengthen propaganda and education according to its influencing factors and to improve the level of medical control and prevention for eye diseases in relevant industries.

Deficient Binocular Combination Reveals Mechanisms of Anisometropic Amblyopia: Signal Attenuation and Interocular Inhibition

PubMed Central

Huang, Chang-Bing; Zhou, Jiawei; Lu, Zhong-Lin; Zhou, Yifeng

2012-01-01

Amblyopia is a developmental disorder that results in deficits of monocular and binocular vision. It's presently unclear whether these deficits result from attenuation of signals in the amblyopic eye, inhibition by signals in the fellow eye, or both. In this study, we characterize the mechanisms underlying anisometropic amblyopia using a binocular phase and contrast combination paradigm and a contrast-gain control model. Subjects dichoptically viewed two slightly different images and reported the perceived contrast and phase of the resulting cyclopean percept. We found that the properties of binocular combination were abnormal in many aspects, which is explained by a combination of (1) attenuated monocular signal in the amblyopic eye, (2) stronger interocular contrast-gain control from the fellow eye to the signal in amblyopic eye (direct interocular inhibition), and (3) stronger interocular contrast-gain control from the fellow eye to the contrast gain control signal from the amblyopic eye (indirect interocular inhibition). We conclude that anisometropic amblyopia led to both monocular and interocular deficits. A complete understanding of the mechanisms underlying amblyopia requires studies of both monocular deficits and binocular interactions. PMID:21546609

Visual functions of commercial drivers in relation to road accidents in Nigeria

PubMed Central

Oladehinde, M. K.; Adeoye, A. O.; Adegbehingbe, B. O.; Onakoya, A. O.

2007-01-01

Objective: To determine the effects of the visual functions on the occurrence of road traffic accidents (RTA) amongst commercial drivers in Ife central local government area (LGA) of Osun state of Nigeria. Design: A cross-sectional study. Settings: Four major motor parks located at Ife Central LGA. Materials and Methods: Of the estimated 270 commercial drivers in the four major parks of the LGA, 215 consecutive drivers were interviewed and had their eyes examined. Structured questionnaires were administered by an ophthalmologist. Results: The prevalence of visual impairment (visual acuity < 6/18) in the better eye without correction was 3.3% ± 2.4 and there was a significant association between uncorrected visual acuity impairment in the better eye and RTA (P = 0.0152). Refractive error was seen in 8.4% of the drivers, but none of these wear corrective glasses. Visual field defect, abnormal stereopsis and color vision impairment did not have any significant association with RTA. Conclusion: Poor visual acuity is strongly associated with RTA amongst Nigerian commercial drivers as opposed to visual field defect, abnormal color vision and stereopsis. A significant proportion of visual impairment was due to uncorrected refractive errors. PMID:21938219

Optical coherence tomography angiography retinal vascular network assessment in multiple sclerosis.

PubMed

Lanzillo, Roberta; Cennamo, Gilda; Criscuolo, Chiara; Carotenuto, Antonio; Velotti, Nunzio; Sparnelli, Federica; Cianflone, Alessandra; Moccia, Marcello; Brescia Morra, Vincenzo

2017-09-01

Optical coherence tomography (OCT) angiography is a new method to assess the density of the vascular networks. Vascular abnormalities are considered involved in multiple sclerosis (MS) pathology. To assess the presence of vascular abnormalities in MS and to evaluate their correlation to disease features. A total of 50 MS patients with and without history of optic neuritis (ON) and 46 healthy subjects were included. All underwent spectral domain (SD)-OCT and OCT angiography. Clinical history, Expanded Disability Status Scale (EDSS), Multiple Sclerosis Severity Score (MSSS) and disease duration were collected. Angio-OCT showed a vessel density reduction in eyes of MS patients when compared to controls. A statistically significant reduction in all SD-OCT and OCT angiography parameters was noticed both in eyes with and without ON when compared with control eyes. We found an inverse correlation between SD-OCT parameters and MSSS ( p = 0.003) and between vessel density parameters and EDSS ( p = 0.007). We report a vessel density reduction in retina of MS patients. We highlight the clinical correlation between vessel density and EDSS, suggesting that angio-OCT could be a good marker of disease and of disability in MS.

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

PubMed

Jedraszak, Guillaume; Braun, Karine; Receveur, Aline; Decamp, Matthieu; Andrieux, Joris; Rabbind Singh, Amrathlal; Copin, Henri; Bremond-Gignac, Dominique; Mathieu, Michèle; Rochette, Jacques; Morin, Gilles

2015-10-01

Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic-pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Motor neuronopathy with dropped hands and downbeat nystagmus: a distinctive disorder? A case report.

PubMed

Thakore, Nimish J; Pioro, Erik P; Rucker, Janet C; Leigh, R John

2006-01-12

Eye movements are clinically normal in most patients with motor neuron disorders until late in the disease course. Rare patients are reported to show slow vertical saccades, impaired smooth pursuit, and gaze-evoked nystagmus. We report clinical and oculomotor findings in three patients with motor neuronopathy and downbeat nystagmus, a classic sign of vestibulocerebellar disease. All patients had clinical and electrodiagnostic features of anterior horn cell disease. Involvement of finger and wrist extensors predominated, causing finger and wrist drop. Bulbar or respiratory dysfunction did not occur. All three had clinically evident downbeat nystagmus worse on lateral and downgaze, confirmed on eye movement recordings using the magnetic search coil technique in two patients. Additional oculomotor findings included alternating skew deviation and intermittent horizontal saccadic oscillations, in one patient each. One patient had mild cerebellar atrophy, while the other two had no cerebellar or brainstem abnormality on neuroimaging. The disorder is slowly progressive, with survival up to 30 years from the time of onset. The combination of motor neuronopathy, characterized by early and prominent wrist and finger extensor weakness, and downbeat nystagmus with or without other cerebellar eye movement abnormalities may represent a novel motor neuron syndrome.

Motor neuronopathy with dropped hands and downbeat nystagmus: A distinctive disorder? A case report

PubMed Central

Thakore, Nimish J; Pioro, Erik P; Rucker, Janet C; Leigh, R John

2006-01-01

Background Eye movements are clinically normal in most patients with motor neuron disorders until late in the disease course. Rare patients are reported to show slow vertical saccades, impaired smooth pursuit, and gaze-evoked nystagmus. We report clinical and oculomotor findings in three patients with motor neuronopathy and downbeat nystagmus, a classic sign of vestibulocerebellar disease. Case presentation All patients had clinical and electrodiagnostic features of anterior horn cell disease. Involvement of finger and wrist extensors predominated, causing finger and wrist drop. Bulbar or respiratory dysfunction did not occur. All three had clinically evident downbeat nystagmus worse on lateral and downgaze, confirmed on eye movement recordings using the magnetic search coil technique in two patients. Additional oculomotor findings included alternating skew deviation and intermittent horizontal saccadic oscillations, in one patient each. One patient had mild cerebellar atrophy, while the other two had no cerebellar or brainstem abnormality on neuroimaging. The disorder is slowly progressive, with survival up to 30 years from the time of onset. Conclusion The combination of motor neuronopathy, characterized by early and prominent wrist and finger extensor weakness, and downbeat nystagmus with or without other cerebellar eye movement abnormalities may represent a novel motor neuron syndrome. PMID:16409626

Analysis of 14-3-3 Family Member Function in Xenopus Embryos by Microinjection of Antisense Morpholino Oligos

NASA Astrophysics Data System (ADS)

Lau, Jeffrey M. C.; Muslin, Anthony J.

The 14-3-3 intracellular phosphoserine/threonine-binding proteins are adapter molecules that regulate signal transduction, cell cycle, nutrient sensing, apoptotic, and cytoskeletal pathways. There are seven 14-3-3 family members, encoded by separate genes, in vertebrate organisms. To evaluate the role of individual 14-3-3 proteins in vertebrate embryonic development, we utilized an antisense morpholino oligo microinjection technique in Xenopus laevis embryos. By use of this method, we showed that embryos lacking specific 14-3-3 proteins displayed unique phenotypic abnormalities. Specifically, embryos lacking 14-3-3 τ exhibited gastrulation and axial patterning defects, but embryos lacking 14-3-3 γ exhibited eye defects without other abnormalities, and embryos lacking 14-3-3 ζ appeared completely normal. These and other results demonstrate the power and specificity of the morpholino antisense oligo microinjection technique.

Signaling by ectopically expressed Drosophila Src64 requires the protein-tyrosine phosphatase corkscrew and the adapter downstream of receptor kinases.

PubMed

Cooper, J A; Simon, M A; Kussick, S J

1996-11-01

Vertebrate Src can be activated by specific mutations to become oncogenic. Analogous mutations in Drosophila Src64 (DSrc) induce abnormal differentiation of photoreceptor cells when expressed ectopically in the developing Drosophila adult eye. We have investigated the roles that the adapter protein, Downstream of receptor kinases (Drk), and the SH2 domain-containing tyrosine phosphatase, Corkscrew (Csw), play in this process. We find that dominant-negative mutations in either the drk or csw genes ameliorate the developmental abnormalities induced by activated DSrc. This suggests that Drk and Csw are required downstream of, or parallel to, DSrc. Csw does not act solely as an upstream activator of DSrc. The results are discussed in relation to potential roles for the vertebrate homologues of Drk and Csw (Grb2 and SHP2, respectively) in the transformation of fibroblasts by vertebrate Src.

Correlation between physical anomaly and behavioral abnormalities in Down syndrome

PubMed Central

Bhattacharyya, Ranjan; Sanyal, Debasish; Roy, Krishna; Bhattacharyya, Sumita

2010-01-01

Objective: The minor physical anomaly (MPA) is believed to reflect abnormal development of the CNS. The aim is to find incidence of MPA and its behavioral correlates in Down syndrome and to compare these findings with the other causes of intellectual disability and normal population. Materials and Methods: One-hundred and forty intellectually disabled people attending a tertiary care set-up and from various NGOs are included in the study. The age-matched group from normal population was also studied for comparison. MPA are assessed by using Modified Waldrop scale and behavioral abnormality by Diagnostic assessment scale for severely handicapped (DASH II scale). Results: The Down syndrome group had significantly more MPA than other two groups and most of the MPA is situated in the global head region. There is strong correlation (P < 0.001) between the various grouped items of Modified Waldrop scale. Depression subscale is correlated with anomalies in the hands (P < 0.001), feet and Waldrop total items (P < 0.005). Mania item of DASH II scale is related with anomalies around the eyes (P < 0.001). Self-injurious behavior and total Waldrop score is negatively correlated with global head. Conclusion: Down syndrome group has significantly more MPA and a pattern of correlation between MPA and behavioral abnormalities exists which necessitates a large-scale study. PMID:21559153

Naked-eye inspection of the cervix after acetic acid application may improve the predictive value of negative cytologic screening.

PubMed

Frisch, L E; Milner, F H; Ferris, D G

1994-11-01

The purpose of this study was to assess the predictive value of naked-eye inspection of the cervix (NIC) after acetic acid application as an adjunct to Papanicolaou (Pap) testing for cervical cancer screening. Study subjects were women attending a medical college student health clinic either for cervical cytologic screening (67%) or because of a recent atypical cytologic screening result (33%). All study participants received cytologic screening, cervicography, and NIC. Of the 95 patients, 71 (75%) had abnormal findings on NIC. Fifty-one patients underwent colposcopy with biopsy, including 48 of the 71 with an abnormal finding on NIC. The results of 40 of the biopsies were abnormal: 36 showed human papillomavirus or low-grade squamous intraepithelial lesions, 3 showed high-grade squamous intraepithelial lesions, and 1 showed invasive cervical cancer. Sixty-five percent (26) of the abnormal biopsy findings occurred in women with normal cytologic test results. NIC and cervicography both were effective in identifying patients with abnormalities, but the combination of NIC followed by cervicography referred fewer women for colposcopy than did a positive result on NIC alone (52% vs 75%). The combination of a negative Pap smear and a negative NIC result had a 91% predictive value for the absence of cervical intraepithelial neoplasia. This was a significant improvement over cytologic screening alone. In this study, the combination of cytologic screening (Pap smear) and NIC increased the screening yield as compared with a Pap smear alone but with some loss of positive predictive value. NIC significantly improved the predictive value of negative cytologic screening results.

Evaluation of polyesteramide (PEA) and polyester (PLGA) microspheres as intravitreal drug delivery systems in albino rats.

PubMed

Peters, Tobias; Kim, Seong-Woo; Castro, Vinicius; Stingl, Krunoslav; Strasser, Torsten; Bolz, Sylvia; Schraermeyer, Ulrich; Mihov, George; Zong, MengMeng; Andres-Guerrero, Vanessa; Herrero Vanrell, Rocio; Dias, Aylvin A; Cameron, Neil R; Zrenner, Eberhart

2017-04-01

To study the suitability of injectable microspheres based on poly(ester amide) (PEA) or poly lactic-co-glycolic acid (PLGA) as potential vehicles for intravitreal drug delivery in rat eyes. Dexamethasone-loaded PEA microspheres (PEA + DEX) were also evaluated. Forty male Sprague Dawley rats were divided into four groups that received different intravitreally injected microspheres: PEA group (n = 12); PLGA group (n = 12); PEA + DEX group (n = 8); and control group (no injection, n = 8). Electroretinography (ERG), fundus autofluorescence (FAF), and spectral domain optical coherence tomography (sdOCT) were performed at baseline, weeks 1 and 2, and months 1, 2, and 3 after intravitreal injection. Eyes were histologically examined using light microscopy and transmission electron microscopy at the end of the in vivo study. There were no statistically significant changes in ERG among the groups. Abnormal FAF pattern and abnormal deposits in OCT were observed after injection but almost completely disappeared between week 2 and month 3 in all injected groups. GFAP staining showed that Müller glia cell activation was most pronounced in PLGA-injected eyes. Increased cell death was not observed by TUNEL staining at month 1. In electron microscopy at month 3, the remnants of microparticles were found in the retinal cells of all injected groups, and loss of plasma membrane was seen in the PLGA group. Although morphological changes such as mild glial activation and material remnants were observed histologically 1 month and 3 months after injection in all injected groups, minor cell damage was noted only in the PLGA group at 3 months after injection. No evidence of functional abnormality relative to untreated eyes could be detected by ERG 3 months after injection in all groups. Changes observed in in vivo imaging such as OCT and FAF disappeared after 3 months in almost all cases. Copyright © 2017 Elsevier Ltd. All rights reserved.

Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy.

PubMed

Parodi, Maurizio Battaglia; Iacono, Pierluigi; Del Turco, Claudia; Bandello, Francesco

2014-12-01

To describe fundus autofluorescence (FAF) on short-wavelength FAF and near-infrared FAF in the subclinical form of Best vitelliform macular dystrophy. Cross-sectional prospective study. Patients affected by the subclinical form of Best vitelliform macular dystrophy (positive testing for BEST1 gene mutation, fully preserved best-corrected visual acuity, normal fundus appearance) were recruited. Each patient underwent a complete ophthalmologic examination, including electro-oculogram (EOG), short-wavelength FAF, near-infrared FAF, spectral-domain OCT (SD OCT), and microperimetry. Main outcome measure was the identification of abnormal FAF patterns. Forty-six patients showing mutations in the BEST1 gene were examined. Forty patients presented a bilateral Best vitelliform macular dystrophy, 2 patients showed a unilateral Best vitelliform macular dystrophy, and 4 patients had a bilateral subclinical form. Patients with the unilateral form (2 eyes) and patients with the subclinical form (8 eyes) were analyzed. Three BEST1 sequence variants were identified: c.73C>T (p.Arg25Trp), c.28G>A (p.Ala10Thr), and c.652C>G (p.Arg218Gly). Short-wavelength FAF was normal in all eyes. Near-infrared FAF detected a pattern consisting of a central hypo-autofluorescence surrounded by a round area of hyper-autofluorescence. A bilateral reduced EOG response was detected in 1 patient. SD OCT revealed a thicker, well-defined, and more reflective interdigitation zone in 2 patients (4 eyes, 40%). Microperimetry of the central 10 degrees revealed a slight, diffuse reduction of retinal sensitivity. Mean retinal sensitivity within the central 2 and 4 degrees was lower and matched the hypo-autofluorescent area detected on near-infrared FAF. Additional relative scotomata were detected within the 10-degree area. No change in clinical, functional, or FAF pattern was found over the follow-up. Subclinical Best vitelliform macular dystrophy is characterized by the absence of biomicroscopic fundus abnormality and fully preserved visual acuity, but shows an abnormal near-infrared FAF pattern, with central hypo-autofluorescence. Copyright © 2014 Elsevier Inc. All rights reserved.

Genetic factors and molecular mechanisms in dry eye disease.

PubMed

Lee, Ling; Garrett, Qian; Flanagan, Judith; Chakrabarti, Subhabrata; Papas, Eric

2018-04-01

Dry eye disease (DED) is a complex condition with a multifactorial etiology that can be difficult to manage successfully. While external factors are modifiable, treatment success is limited if genetic factors contribute to the disease. The purpose of this review is to compile research describing normal and abnormal ocular surface function on a molecular level, appraise genetic studies involving DED or DED-associated diseases, and introduce the basic methods used for conducting genetic epidemiology studies. Copyright © 2018 Elsevier Inc. All rights reserved.

Effects of Device on Video Head Impulse Test (vHIT) Gain.

PubMed

Janky, Kristen L; Patterson, Jessie N; Shepard, Neil T; Thomas, Megan L A; Honaker, Julie A

2017-10-01

Numerous video head impulse test (vHIT) devices are available commercially; however, gain is not calculated uniformly. An evaluation of these devices/algorithms in healthy controls and patients with vestibular loss is necessary for comparing and synthesizing work that utilizes different devices and gain calculations. Using three commercially available vHIT devices/algorithms, the purpose of the present study was to compare: (1) horizontal canal vHIT gain among devices/algorithms in normal control subjects; (2) the effects of age on vHIT gain for each device/algorithm in normal control subjects; and (3) the clinical performance of horizontal canal vHIT gain between devices/algorithms for differentiating normal versus abnormal vestibular function. Prospective. Sixty-one normal control adult subjects (range 20-78) and eleven adults with unilateral or bilateral vestibular loss (range 32-79). vHIT was administered using three different devices/algorithms, randomized in order, for each subject on the same day: (1) Impulse (Otometrics, Schaumberg, IL; monocular eye recording, right eye only; using area under the curve gain), (2) EyeSeeCam (Interacoustics, Denmark; monocular eye recording, left eye only; using instantaneous gain), and (3) VisualEyes (MicroMedical, Chatham, IL, binocular eye recording; using position gain). There was a significant mean difference in vHIT gain among devices/algorithms for both the normal control and vestibular loss groups. vHIT gain was significantly larger in the ipsilateral direction of the eye used to measure gain; however, in spite of the significant mean differences in vHIT gain among devices/algorithms and the significant directional bias, classification of "normal" versus "abnormal" gain is consistent across all compared devices/algorithms, with the exception of instantaneous gain at 40 msec. There was not an effect of age on vHIT gain up to 78 years regardless of the device/algorithm. These findings support that vHIT gain is significantly different between devices/algorithms, suggesting that care should be taken when making direct comparisons of absolute gain values between devices/algorithms. American Academy of Audiology

Adverse morphological development in embryonic zebrafish exposed to environmental concentrations of contaminants individually and in mixture.

PubMed

Kinch, Cassandra D; Kurrasch, Deborah M; Habibi, Hamid R

2016-06-01

Exposure to environmental contaminants has been linked to developmental and reproductive abnormalities leading to infertility, spontaneous abortion, reduced number of offspring, and metabolic disorders. In addition, there is evidence linking environmental contaminants and endocrine disruption to abnormal developmental rate, defects in heart and eye morphology, and alterations in behavior. Notably, these effects could not be explained by interaction with a single hormone receptor. Here, using a whole-organism approach, we investigated morphological changes to developing zebrafish caused by exposure to a number of environmental contaminants, including bisphenol A (BPA), di(2-ethylhexyl)phthalate (DEHP), nonylphenol, and fucosterol at concentrations measured in a local water body (Oldman River, AB), individually and in mixture. Exposure to nanomolar contaminant concentrations resulted in abnormal morphological development, including changes to body length, pericardia (heart), and the head. We also characterize the spatiotemporal expression profiles of estrogen, androgen, and thyroid hormone receptors to demonstrate that localization of these receptors might be mediating contaminant effects on development. Finally, we examined the effects of contaminants singly and in mixture. Combined, our results support the hypothesis that adverse effects of contaminants are not mediated by single hormone receptor signaling, and adversity of contaminants in mixture could not be predicted by simple additive effect of contaminants. The findings provide a framework for better understanding of developmental toxicity of environmental contaminants in zebrafish and other vertebrate species. Copyright © 2016 Elsevier B.V. All rights reserved.

Characteristics and Ophthalmic Manifestations of the Classic Dengue Fever Epidemic in Singapore (2005-2006).

PubMed

Koh, Yan Tong; Sanjay, Srinivasan

2013-01-01

The aim of this study was to report the characteristics and ophthalmic manifestations associated with dengue fever (DF) in the 2005-2006 DF epidemic in Singapore. A retrospective case series. Eleven patients (7 males, 4 females) who were 14 to 40 years old (mean age, 27.3 years) with visual complaints occurring 1 to 2 weeks after the onset of DF underwent a complete ophthalmologic examination. The presenting visual acuity (VA) ranged from 6/6 to counting fingers. Five patients had bilateral eye involvement. Ophthalmic findings included retinal hemorrhages (15 eyes), cotton wool spots (15 eyes), retinal pigment epithelium alterations (5 eyes), optic disc swelling (3 eyes), foveolitis (3 eyes), and hyperemia (2 eyes). Impaired color vision was noted in 12 eyes. Visual field defects were noted in 13 eyes; 4 of these eyes were asymptomatic. Fundus fluorescein angiography was done in 9 patients; the findings include choroidal hyperfluorescence (9 eyes), blocked fluorescence (8 eyes), and capillary nonperfusion (1 eye). In 2 eyes, it was normal. Electrophysiology confirmed optic neuropathy in 3 eyes and maculopathy in 1 eye. The follow-up ranged from 12 days to 12 months. The VA at the last follow-up ranged from no light perception to 6/6. Visual field abnormalities were noted in 5 eyes despite a normal VA. Dengue fever is associated with a wide spectrum of ophthalmic manifestations. Rarely, ophthalmic complications in DF can result in permanent visual impairment. Further work can be done to elucidate the relationship between systemic and ocular manifestations of DF.

Retinal abnormalities in β-thalassemia major

PubMed Central

Bhoiwala, Devang L.; Dunaief, Joshua L.

2015-01-01

Patients with beta (β)-thalassemia (β-TM: thalassemia major, β-TI: thalassemia intermedia) have a variety of complications that may affect all organs, including the eye. Ocular abnormalities include retinal pigment epithelium degeneration, angioid streaks, venous tortuosity, night blindness, visual field defects, decreased visual acuity, color vision abnormalities, and acute visual loss. Patients with β-TM are transfusion dependent and require iron chelation therapy (ICT) in order to survive. Retinal degeneration may result from either retinal iron accumulation from transfusion-induced iron overload or retinal toxicity induced by ICT. Some who were never treated with ICT exhibited retinopathy, and others receiving ICT had chelator-induced retinopathy. We will focus on retinal abnormalities present in individuals with β-TM viewed in light of new findings on the mechanisms and manifestations of retinal iron toxicity. PMID:26325202

Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development.

PubMed

Viringipurampeer, Ishaq A; Ferreira, Todd; DeMaria, Shannon; Yoon, Jookyung J; Shan, Xianghong; Moosajee, Mariya; Gregory-Evans, Kevin; Ngai, John; Gregory-Evans, Cheryl Y

2012-05-15

Tissue fusion is an essential morphogenetic mechanism in development, playing a fundamental role in developing neural tube, palate and the optic fissure. Disruption of genes associated with the tissue fusion can lead to congenital malformations, such as spina bifida, cleft lip/palate and ocular coloboma. For instance, the Pax2 transcription factor is required for optic fissure closure, although the mechanism of Pax2 action leading to tissue fusion remains elusive. This lack of information defining how transcription factors drive tissue morphogenesis at the cellular level is hampering new treatments options. Through loss- and gain-of-function analysis, we now establish that pax2 in combination with vax2 directly regulate the fas-associated death domain (fadd) gene. In the presence of fadd, cell proliferation is restricted in the developing eye through a caspase-dependent pathway. However, the loss of fadd results in a proliferation defect and concomitant activation of the necroptosis pathway through RIP1/RIP3 activity, leading to an abnormal open fissure. Inhibition of RIP1 with the small molecule drug necrostatin-1 rescues the pax2 eye fusion defect, thereby overcoming the underlying genetic defect. Thus, fadd has an essential physiological function in protecting the developing optic fissure neuroepithelium from RIP3-dependent necroptosis. This study demonstrates the molecular hierarchies that regulate a cellular switch between proliferation and the apoptotic and necroptotic cell death pathways, which in combination drive tissue morphogenesis. Furthermore, our data suggest that future therapeutic strategies may be based on small molecule drugs that can bypass the gene defects causing common congenital tissue fusion defects.

Multivariate genetic determinants of EEG oscillations in schizophrenia and psychotic bipolar disorder from the BSNIP study

PubMed Central

Narayanan, B; Soh, P; Calhoun, V D; Ruaño, G; Kocherla, M; Windemuth, A; Clementz, B A; Tamminga, C A; Sweeney, J A; Keshavan, M S; Pearlson, G D

2015-01-01

Schizophrenia (SZ) and psychotic bipolar disorder (PBP) are disabling psychiatric illnesses with complex and unclear etiologies. Electroencephalogram (EEG) oscillatory abnormalities in SZ and PBP probands are heritable and expressed in their relatives, but the neurobiology and genetic factors mediating these abnormalities in the psychosis dimension of either disorder are less explored. We examined the polygenic architecture of eyes-open resting state EEG frequency activity (intrinsic frequency) from 64 channels in 105 SZ, 145 PBP probands and 56 healthy controls (HCs) from the multisite BSNIP (Bipolar-Schizophrenia Network on Intermediate Phenotypes) study. One million single-nucleotide polymorphisms (SNPs) were derived from DNA. We assessed eight data-driven EEG frequency activity derived from group-independent component analysis (ICA) in conjunction with a reduced subset of 10 422 SNPs through novel multivariate association using parallel ICA (para-ICA). Genes contributing to the association were examined collectively using pathway analysis tools. Para-ICA extracted five frequency and nine SNP components, of which theta and delta activities were significantly correlated with two different gene components, comprising genes participating extensively in brain development, neurogenesis and synaptogenesis. Delta and theta abnormality was present in both SZ and PBP, while theta differed between the two disorders. Theta abnormalities were also mediated by gene clusters involved in glutamic acid pathways, cadherin and synaptic contact-based cell adhesion processes. Our data suggest plausible multifactorial genetic networks, including novel and several previously identified (DISC1) candidate risk genes, mediating low frequency delta and theta abnormalities in psychoses. The gene clusters were enriched for biological properties affecting neural circuitry and involved in brain function and/or development. PMID:26101851

Intra-ocular pressure normalization technique and equipment

NASA Technical Reports Server (NTRS)

Baehr, E. F. (Inventor)

1979-01-01

A method and apparatus is described for safely reducing abnormally high intraocular pressure in an eye during a predetermined time interval. This allows maintenance of normal intraocular pressure during glaucoma surgery. A pressure regulator of the spring-biassed diaphragm type is provided with additional bias by a column of liquid. The hypodermic needle can be safely inserted into the anterior chamber of the eye. Liquid is then bled out of the column to reduce the bias on the diaphragm of the pressure regulator and, consequently, the output pressure of the regulator. This lowering pressure of the regulator also occurs in the eye by means of a small second bleed path provided between the pressure regulator and the hypodermic needle.

Concurrent Acute Retinal Necrosis in a Patient With Iridocorneal Endothelial Syndrome.

PubMed

Vignesh, A P; Srinivasan, Renuka

2016-11-01

To report a rare case of concurrent acute retinal necrosis in a patient with iridocorneal endothelial syndrome (ICE). Case report. A 42-year-old woman showed acute diminution of vision in the right eye. Her fundus examination revealed features of acute retinal necrosis. She had also experienced gradual diminution of vision in her left eye for 5 years. The examination of her left eye revealed corneal edema with mild corectopia and increased intraocular pressure with abnormal endothelium on specular microscopy pointing to a diagnosis of ICE. This is a rare case where concurrent acute retinal necrosis and ICE syndrome are present in the same patient, possibly pointing to a common viral etiology causing both entities.

Detection of amblyopia utilizing generated retinal reflexes

NASA Technical Reports Server (NTRS)

Kerr, J. H.; Hay, S. H.

1981-01-01

Investigation confirmed that GRR images can be consistently obtained and that these images contain information required to detect the optical inequality of one eye compared to the fellow eye. Digital analyses, electro-optical analyses, and trained observers were used to evaluate the GRR images. Two and three dimensional plots were made from the digital analyses results. These plotted data greatly enhanced the GRR image content, and it was possible for nontrained observers to correctly identify normal vs abnormal ocular status by viewing the plots. Based upon the criteria of detecting equality or inequality of ocular status of a person's eyes, the trained observer correctly identified the ocular status of 90% of the 232 persons who participated in this program.

Vision screening of abused and neglected children by the UCLA Mobile Eye Clinic.

PubMed

Yoo, R; Logani, S; Mahat, M; Wheeler, N C; Lee, D A

1999-07-01

The purpose of our study was to present descriptive findings of ocular abnormalities in vision screening examinations of abused and neglected children. We compared the prevalence and the nature of eye diseases and refractive error between abused and neglected boys staying at the Hathaway Home, a residential facility for abused children, and boys from neighboring Boys and Girls clubs. The children in the study received vision screening examinations through the UCLA Mobile Eye Clinic following a standard format. Clinical data were analyzed by chi-square test. The children with a history of abuse demonstrated significantly higher prevalence of myopia, astigmatism, and external eye disorders. Our study suggests that children with a history of abuse may be at higher risk for visual impairment. These visual impairments may be the long-term sequelae of child abuse.

Development of the eye-movement response in the trainee radiologist

NASA Astrophysics Data System (ADS)

Wooding, David S.; Roberts, Geraint M.; Phillips-Hughes, Jane

1999-05-01

In order to explore the initial response of the visual system to radiological images in groups of individuals with increasing degrees of radiological training and experience, the locations of fixations made during visual inspection of digitized chest radiographs were examined for 4 groups of observers: 10 experienced radiologists, 9 first-year 'novice' radiologists, 11 'trainee' radiologists in the second and third years of their training, and 7 native controls. Each observer viewed 12 digitized chest radiographs (6 normal and 6 showing some abnormality) in a VDU for 8s each. Eye movements were recorded throughout and observers indicated via a button box whether they thought the radiograph to be normal or abnormal. A least squares index was utilized in order to quantify the similarity in fixation location between pairs of eye movement traces over the first 1.5 and 3 seconds of an inspection. The similarities thus produced were then averaged to give intra- and inter-group similarities in fixation location. The fixation locations of experienced radiologists were found to be highly similar as a group, as were those of the novices. While the fixation locations of controls showed less similarity, it was the fixations of trainees which were the least similar (i.e. showed the most variability) within their group. The fixation locations of novices showed a greater similarity to those of radiologists than those of controls, and a decreased similarity to those of controls than those of the controls themselves. However, rather than showing that the fixation locations of individuals become increasing similar to those of radiologists as training progresses, the data show that the more variable fixation locations of trainees are the least similar to those of radiologists than those of any of the groups, even the controls. Control observers examine every day images in a similar way and this is also true of radiological images. Experienced radiologists view radiological images in a similar way to each other, but their training has resulted in differences between them and controls. In becoming experienced radiologists, it appears that trainees may move through a developmental phase characterized by more idiosyncratic eye movements; their eye movements becoming less similar to controls or experienced radiologists than they were. With experience the eye movements of trainee radiologists may become more similar to both groups, but the transition of the trainee from novice to experienced radiologist is not a simple one: the change involves a period of some disorder.

Vitreoretinal interface abnormalities in middle-aged adults with visual impairment in the UK Biobank study: prevalence, impact on visual acuity and associations.

PubMed

McKibbin, Martin; Farragher, Tracey; Shickle, Darren

2017-01-01

The aim of this study was to determine the prevalence of vitreoretinal interface abnormalities (VRIA), the degree of visual impairment and associations with VRIA among adults, aged 40-69 years, in the UK Biobank study. Colour fundus photographs and spectral domain optical coherence tomography images were graded for 25% of the 8359 UK Biobank participants with mild visual impairment or worse (LogMAR >0.3 or Snellen <6/12) in at least one eye. The prevalence and contribution of VRIA to visual impairment was determined and multinomial logistic regression models were used to investigate association with known risk factors and other predetermined socioeconomic, biometric, lifestyle and medical variables for cases and matched controls. The minimum prevalence of any VRIA was 17.6% and 8.1% in the eyes with and without visual impairment, respectively. VRIA were identified as the primary cause of visual impairment in 3.6% of eyes. Although epiretinal membrane and vitreomacular traction were the most common VRIA, the degree of visual impairment was typically milder with these than with other VRIA. Visual impairment with a VRIA was positively associated with increasing age (relative risk ratio (RRR) 1.22 (95% CI 1.07 to 1.40)), female gender (RRR 1.28; 1.08 to 1.52) and Asian or Asian British ethnicity (RRR 1.60; 1.10 to 2.32). VRIA are common in middle-aged adults in the UK Biobank study, especially in eyes with visual impairment. VRIA were considered to be the primary cause of visual impairment in 3.6% of all eyes with visual impairment, although there was variation in the degree of visual impairment for each type of VRIA.

Vitreoretinal interface abnormalities in middle-aged adults with visual impairment in the UK Biobank study: prevalence, impact on visual acuity and associations

PubMed Central

Farragher, Tracey; Shickle, Darren

2017-01-01

Objective The aim of this study was to determine the prevalence of vitreoretinal interface abnormalities (VRIA), the degree of visual impairment and associations with VRIA among adults, aged 40–69 years, in the UK Biobank study. Methods and analysis Colour fundus photographs and spectral domain optical coherence tomography images were graded for 25% of the 8359 UK Biobank participants with mild visual impairment or worse (LogMAR >0.3 or Snellen <6/12) in at least one eye. The prevalence and contribution of VRIA to visual impairment was determined and multinomial logistic regression models were used to investigate association with known risk factors and other predetermined socioeconomic, biometric, lifestyle and medical variables for cases and matched controls. Results The minimum prevalence of any VRIA was 17.6% and 8.1% in the eyes with and without visual impairment, respectively. VRIA were identified as the primary cause of visual impairment in 3.6% of eyes. Although epiretinal membrane and vitreomacular traction were the most common VRIA, the degree of visual impairment was typically milder with these than with other VRIA. Visual impairment with a VRIA was positively associated with increasing age (relative risk ratio (RRR) 1.22 (95% CI 1.07 to 1.40)), female gender (RRR 1.28; 1.08 to 1.52) and Asian or Asian British ethnicity (RRR 1.60; 1.10 to 2.32). Conclusions VRIA are common in middle-aged adults in the UK Biobank study, especially in eyes with visual impairment. VRIA were considered to be the primary cause of visual impairment in 3.6% of all eyes with visual impairment, although there was variation in the degree of visual impairment for each type of VRIA. PMID:29354705

Optical Coherence Tomography Angiography and Ultra-widefield Fluorescein Angiography for Early Detection of Adolescent Sickle Retinopathy.

PubMed

Pahl, Daniel A; Green, Nancy S; Bhatia, Monica; Lee, Margaret T; Chang, Jonathan S; Licursi, Maureen; Briamonte, Courtney; Smilow, Elana; Chen, Royce W S

2017-11-01

Based on standard screening techniques, sickle retinopathy reportedly occurs in 10% of adolescents with sickle cell disease (SCD). We performed a prospective, observational clinical study to determine if ultra-widefield fluorescein angiography (UWFA), spectral-domain optical coherence tomography (SD-OCT), and optical coherence tomography angiography (OCT-A) detect more-frequent retinopathy in adolescents with SCD. Cross-sectional study. Setting: Institutional. Sixteen adolescents with SCD, aged 10-19 years (mean age 14.9 years), and 5 age-equivalent controls (mean age 17.4 years). Examinations including acuity, standard slit-lamp biomicroscopy, UWFA, SD-OCT, and OCT-A were performed. Sickle retinopathy defined by biomicroscopic changes, Goldberg stages I-V, Penman scale, flow void on OCT-A, or macular thinning on SD-OCT. While 22 of 32 SCD eyes (68.8%) had retinopathy on biomicroscopy, by UWFA 4 of 24 (16.7%) SCD eyes had peripheral arterial occlusion (Goldberg I), and 20 of 24 eyes (83.3%) had peripheral arteriovenous anastomoses (Goldberg II) in addition. No patients had Goldberg stages III-V. By SD-OCT and OCT-A, thinning of the macula and flow voids in both the superficial and deep retinal capillary plexus were found in 6 of 30 (20%) eyes. All 24 eyes with adequate UWFA studies demonstrated sickle retinopathy. SD-OCT and OCT-A, which have not been previously reported in the adolescent population, detected abnormal macular thinning and flow abnormalities undetected by biomicroscopy. These findings suggest that pediatric sickle retinopathy may be more prevalent than previously suspected. If these findings are confirmed with larger cross-sectional and prospective analyses, these approaches may enhance early screening for sickle retinopathy. Copyright © 2017 Elsevier Inc. All rights reserved.

Dichoptic stimulation improves detection of glaucoma with multifocal visual evoked potentials.

PubMed

Arvind, Hemamalini; Klistorner, Alexander; Graham, Stuart; Grigg, John; Goldberg, Ivan; Klistorner, Asya; Billson, Frank A

2007-10-01

To determine whether simultaneous binocular (dichoptic) stimulation for multifocal visual evoked potentials (mfVEP) detects glaucomatous defects and decreases intereye variability. Twenty-eight patients with glaucoma and 30 healthy subjects underwent mfVEP on monocular and dichoptic stimulation. Dichoptic stimulation was presented with the use of virtual reality goggles (recording time, 7 minutes). Monocular mfVEPs were recorded sequentially for each eye (recording time, 10 minutes). Comparison of mean relative asymmetry coefficient (RAC; calculated as difference in amplitudes between eyes/sum of amplitudes of both eyes at each segment) on monocular and dichoptic mfVEP revealed significantly lower RAC on dichoptic (0.003 +/- 0.03) compared with monocular testing (-0.02 +/- 0.04; P = 0.002). In all 28 patients, dichoptic mfVEP identified defects with excellent topographic correspondence. Of 56 hemifields (28 eyes), 33 had Humphrey visual field (HFA) scotomas, all of which were detected by dichoptic mfVEP. Among 23 hemifields with normal HFA, two were abnormal on monocular and dichoptic mfVEP. Five hemifields (five patients) normal on HFA and monocular mfVEP were abnormal on dichoptic mfVEP. In all five patients, corresponding rim changes were observed on disc photographs. Mean RAC of glaucomatous eyes was significantly higher on dichoptic (0.283 +/- 0.18) compared with monocular (0.199 +/- 0.12) tests (P = 0.0006). Dichoptic mfVEP not only detects HFA losses, it may identify early defects in areas unaffected on HFA and monocular mfVEP while reducing testing time by 30%. Asymmetry was tighter among healthy subjects but wider in patients with glaucoma on simultaneous binocular stimulation, which is potentially a new tool in the early detection of glaucoma.

CHARACTERIZATION OF ANTERIOR SEGMENT OPHTHALMOLOGIC LESIONS IDENTIFIED IN FREE-RANGING DOLPHINS AND THOSE UNDER HUMAN CARE.

PubMed

Colitz, Carmen M H; Walsh, Michael T; McCulloch, Stephen D

2016-03-01

Cetaceans in the wild and under human care develop a variety of ocular lesions. Although they have echolocation, cetacean species have good sight, making ocular health an important part of overall health care. The cornea is the primary site of abnormalities in both populations. Typical lesions of cetaceans under human care are characterized in this retrospective review of cases. One hundred eighty animals (n = 360 eyes) were chosen from the author's ophthalmologic examination reports from different geographic areas; they included Atlantic bottlenose dolphins (Tursiops truncatus), Pacific bottle nose dolphins (Tursiopstruncatus gilli), Indopacific bottlenose dolphins (Steno bredanensis), Indopacific humpback dolphins (Sousa chinensis), and roughtooth dolphins (Steno bredanensis). These animals were examined at least once, although most were examined numerous times over many years; lesions were categorized and are described. Seventy-seven eyes from 47 animals were normal. Medial keratopathy was the most common lesion and identified in 180 eyes from 97 animals, with 83 affected bilaterally. Horizontal keratopathy was identified in 69 eyes from 41 animals, with 28 affected bilaterally. Axial keratopathy and nonspecific axial opacities were identified in 67 eyes from 44 animals, with 21 affected bilaterally. Seventy-eight eyes from 50 animals, with 28 affected bilaterally, had more than one type of corneal lesion. Cataracts were identified in 32 eyes from 19 animals, with 13 affected bilaterally. Traumatic injuries were also common and involved eyelids and cornea. Sixteen eyes from 11 animals were blind; five dolphins were blind bilaterally due to phthisis bulbi secondary to corneal perforation or severe trauma. None of the diseases had a sex predisposition; however, medial keratopathy was significantly more common as a bilateral presentation than as a unilateral presentation. Cetaceans under human care with impaired sight can use echolocation; however, ocular health should definitely be a priority in their overall health plan.

The Relationship Between Ocular Itch, Ocular Pain, and Dry Eye Symptoms (An American Ophthalmological Society Thesis).

PubMed

Galor, Anat; Small, Leslie; Feuer, William; Levitt, Roy C; Sarantopoulos, Konstantinos D; Yosipovitch, Gil

2017-08-01

To evaluate associations between sensations of ocular itch and dry eye (DE) symptoms, including ocular pain, and DE signs. A cross-sectional study of 324 patients seen in the Miami Veterans Affairs eye clinic was performed. The evaluation consisted of questionnaires regarding ocular itch, DE symptoms, descriptors of neuropathic-like ocular pain (NOP), and evoked pain sensitivity testing on the forehead and forearm, followed by a comprehensive ocular surface examination including corneal mechanical sensitivity testing. Analyses were performed to examine for differences between those with and without subjective complaints of ocular itch. The mean age was 62 years with 92% being male. Symptoms of DE and NOP were more frequent in patients with moderate-severe ocular itch compared to those with no or mild ocular itch symptoms. With the exception of ocular surface inflammation (abnormal matrix metalloproteinase 9 testing) which was less common in those with moderate-severe ocular itch symptoms, DE signs were not related to ocular itch. Individuals with moderate-severe ocular itch also demonstrated greater sensitivity to evoked pain on the forearm and had higher non-ocular pain, depression, and post-traumatic stress disorders scores, compared to those with no or mild itch symptoms. Subjects with moderate-severe ocular itch symptoms have more severe symptoms of DE, NOP, non-ocular pain and demonstrate abnormal somatosensory testing in the form of increased sensitivity to evoked pain at a site remote from the eye, consistent with generalized hypersensitivity.

The Relationship Between Ocular Itch, Ocular Pain, and Dry Eye Symptoms (An American Ophthalmological Society Thesis)

PubMed Central

Galor, Anat; Small, Leslie; Feuer, William; Levitt, Roy C.; Sarantopoulos, Konstantinos D.; Yosipovitch, Gil

2017-01-01

Purpose To evaluate associations between sensations of ocular itch and dry eye (DE) symptoms, including ocular pain, and DE signs. Methods A cross-sectional study of 324 patients seen in the Miami Veterans Affairs eye clinic was performed. The evaluation consisted of questionnaires regarding ocular itch, DE symptoms, descriptors of neuropathic-like ocular pain (NOP), and evoked pain sensitivity testing on the forehead and forearm, followed by a comprehensive ocular surface examination including corneal mechanical sensitivity testing. Analyses were performed to examine for differences between those with and without subjective complaints of ocular itch. Results The mean age was 62 years with 92% being male. Symptoms of DE and NOP were more frequent in patients with moderate-severe ocular itch compared to those with no or mild ocular itch symptoms. With the exception of ocular surface inflammation (abnormal matrix metalloproteinase 9 testing) which was less common in those with moderate-severe ocular itch symptoms, DE signs were not related to ocular itch. Individuals with moderate-severe ocular itch also demonstrated greater sensitivity to evoked pain on the forearm and had higher non-ocular pain, depression, and post-traumatic stress disorders scores, compared to those with no or mild itch symptoms. Conclusions Subjects with moderate-severe ocular itch symptoms have more severe symptoms of DE, NOP, non-ocular pain and demonstrate abnormal somatosensory testing in the form of increased sensitivity to evoked pain at a site remote from the eye, consistent with generalized hypersensitivity. PMID:29391860

Multifocal blue-on-yellow visual evoked potentials in early glaucoma.

PubMed

Klistorner, Alexander; Graham, Stuart L; Martins, Alessandra; Grigg, John R; Arvind, Hemamalini; Kumar, Rajesh S; James, Andrew C; Billson, Francis A

2007-09-01

To determine the sensitivity and specificity of blue-on-yellow multifocal visual evoked potentials (mfVEPs) in early glaucoma. Cross-sectional study. Fifty patients with a confirmed diagnosis of early glaucoma and 60 normal participants. Black-and-white mfVEPs and blue-on-yellow mfVEPs were recorded using the Accumap version 2.0 (ObjectiVision Pty. Ltd., Sydney, Australia). All patients also underwent achromatic standard automated perimetry (SAP). Multifocal VEP amplitude and latency values in glaucoma patients were analyzed and compared with those of the normal controls. Based on the definition of visual field defect, in the group of glaucomatous eyes with SAP defects, amplitude of blue-on-yellow mfVEP was abnormal in all 64 cases (100% sensitivity), whereas black-and-white mfVEP missed 5 cases (92.2% sensitivity). Generally, larger scotomata were noted on blue-on-yellow mfVEP compared with black-and-white mfVEP for the same eyes. There was high topographic correspondence between SAP and amplitude of blue-on-yellow mfVEP and significant (P<0.0001) correlation between them (correlation coefficient, 0.73). Abnormal amplitude was detected in 3 of 60 eyes of control subjects (95% specificity). There was, however, no correlation between visual field defect and latency delay in glaucoma patients. Although there was a significant difference between averaged latency of control and glaucoma eyes, values considerably overlapped. The blue-on-yellow mfVEP is a sensitive and specific tool for detecting early glaucoma based on amplitude analysis.

Non-Invasive Health Diagnostics using Eye as a 'Window to the Body'

NASA Technical Reports Server (NTRS)

Ansari, Rafat R.

2002-01-01

As a 'window to the body', the eye offers the opportunity to use light in various forms to detect ocular and systemic abnormalities long before clinical symptoms appear and help develop preventative/therapeutic countermeasures early. The effects of space travel on human body are similar to those of normal aging. For example, radiation exposure in space could lead to formation of cataracts and cancer by damaging the DNA and causing gene mutation. Additionally, the zero-gravity environment causes fluid shifts in the upper extremities of the body and changes the way blood flows and organ system performs. Here on Earth, cataract, age-related macular degeneration (AMD), diabetic retinopathy (DR), and glaucoma are major eye diseases and are expected to double in next two decades. To detect, prevent, and treat untoward effects of prolonged space travel in real-time requires the development of non-invasive diagnostic technologies that are compact and powerful. We are developing fiber-optic sensors to evaluate the ocular tissues in health, aging, and disease employing the techniques of dynamic light scattering (cataract, uveitis, Alzheimer's, glaucoma, DR, radiation damage, refractive surgery outcomes), auto-fluorescence (aging, DR), laser-Doppler flowmetry (choroidal blood flow), Raman spectroscopy (AMD), polarimetry (diabetes), and retinal oximetry (occult blood loss). The non-invasive feature of these technologies integrated in a head-mounted/goggles-like device permits frequent repetition of tests, enabling evaluation of the results to therapy that may ultimately be useful in various telemedicine applications on Earth and in space.

Unilateral microphthalmia or anophthalmia in eight pythons (Pythonidae).

PubMed

Da Silva, Mari-Ann O; Bertelsen, Mads F; Wang, Tobias; Pedersen, Michael; Lauridsen, Henrik; Heegaard, Steffen

2015-01-01

To provide morphological descriptions of microphthalmia or anophthalmia in eight pythons using microcomputerized tomography (μCT), magnetic resonance imaging (MRI), and histopathology. Seven Burmese pythons (Python bivittatus) and one ball python (P. regius) with clinically normal right eyes and an abnormal or missing left eye. At the time of euthanasia, four of the eight snakes underwent necropsy. Hereafter, the heads of two Burmese pythons and one ball python were examined using μCT, and another Burmese python was subjected to MRI. Following these procedures, the heads of these four pythons along with the heads of an additional three Burmese pythons were prepared for histology. All eight snakes had left ocular openings seen as dermal invaginations between 0.2 and 2.0 mm in diameter. They also had varying degrees of malformations of the orbital bones and a limited presence of nervous, glandular, and muscle tissue in the posterior orbit. Two individuals had small but identifiable eyes. Furthermore, remnants of the pigmented embryonic framework of the hyaloid vessels were found in the anophthalmic snakes. Necropsies revealed no other macroscopic anomalies. Eight pythons with unilateral left-sided microphthalmia or anophthalmia had one normal eye and a left orbit with malformed or incompletely developed ocular structures along with remnants of fetal structures. These cases lend further information to a condition that is often seen in snakes, but infrequently described. © 2014 American College of Veterinary Ophthalmologists.

In Six-month-old Infants, Prenatal Exposure to Maternal Anxiety is Associated with Less Developed Smooth Pursuit Eye Movements: An Initial Study.

PubMed

Pellegrino, Laurel; Ross, Randal G; Hunter, Sharon K

2013-01-01

There are an increasing number of reports suggesting an association between maternal anxiety experienced during pregnancy and adverse outcomes of the offspring. However, exploration of the biological changes in the brain that mediate that relationship has been hampered by the lack of appropriate biomarkers. This report represents an initial step exploring whether a potential infant biomarker, smooth pursuit eye movements, may be associated with prenatal exposure to maternal anxiety. Blinded cross-sectional study. Department of Psychiatry, University of Colorado School of Medicine. Data collected from July 2011 to May 2012. Forty-three infants including 34 whose prenatal maternal anxiety status was identified (12 with a known maternal prenatal anxiety diagnosis and 22 without) had eye movements recorded during a smooth pursuit eye movement task at four and/or six months of age. At 6 months of age, infants with prenatal exposure to maternal anxiety, compared to infants without such exposure, spent a higher percentage of time utilizing smooth pursuit (t=2.7, df=24, P =.013), had longer duration of smooth pursuit uninterrupted by saccades (t=2.5, df=24, P =.019), and had decreased frequency of forward saccades (t=3.8, df=24, P =.001). No differences between groups were identified at 4 months of age. Smooth pursuit abnormalities may, at six months of age, be a potential biomarker for prenatal maternal anxiety exposure.

Efficacy of the Amsler Grid Test in Evaluating Glaucomatous Central Visual Field Defects.

PubMed

Su, Daniel; Greenberg, Andrew; Simonson, Joseph L; Teng, Christopher C; Liebmann, Jeffrey M; Ritch, Robert; Park, Sung Chul

2016-04-01

To investigate the efficacy of the Amsler grid test in detecting central visual field (VF) defects in glaucoma. Prospective, cross-sectional study. Patients with glaucoma with reliable Humphrey 10-2 Swedish Interactive Threshold Algorithm standard VF on the date of enrollment or within the previous 3 months. Amsler grid tests were performed for each eye and were considered "abnormal" if there was any perceived scotoma with missing or blurry grid lines within the central 10 degrees ("Amsler grid scotoma"). An abnormal 10-2 VF was defined as ≥3 adjacent points at P < 0.01 with at least 1 point at P < 0.005 in the same hemifield on the pattern deviation plot. Sensitivity, specificity, and positive and negative predictive values of the Amsler grid scotoma area were calculated with the 10-2 VF as the clinical reference standard. Among eyes with an abnormal 10-2 VF, regression analyses were performed between the Amsler grid scotoma area and the 10-2 VF parameters (mean deviation [MD], scotoma extent [number of test points with P < 0.01 in total deviation map] and scotoma mean depth [mean sensitivity of test points with P < 0.01 in total deviation map]). Sensitivity, specificity, and positive and negative predictive values of the Amsler grid scotoma area. A total of 106 eyes (53 patients) were included (mean ± standard deviation age, 24-2 MD and 10-2 MD = 66±12 years, -9.61±8.64 decibels [dB] and -9.75±9.00 dB, respectively). Sensitivity, specificity, and positive and negative predictive values of the Amsler grid test were 68%, 92%, 97%, and 46%, respectively. Sensitivity was 40% in eyes with 10-2 MD better than -6 dB, 58% in eyes with 10-2 MD between -12 and -6 dB, and 92% in eyes with 10-2 MD worse than -12 dB. The area under the receiver operating characteristic curve of the Amsler grid scotoma area was 0.810 (95% confidence interval, 0.723-0.880, P < 0.001). The Amsler grid scotoma area had the strongest relationship with 10-2 MD (quadratic R(2)=0.681), followed by 10-2 scotoma extent (quadratic R(2)=0.611) and 10-2 scotoma mean depth (quadratic R(2)=0.299) (all P < 0.001). The Amsler grid can be used to screen for moderate to severe central vision loss from glaucoma. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Intact unconscious processing of eye contact in schizophrenia.

PubMed

Seymour, Kiley; Rhodes, Gillian; Stein, Timo; Langdon, Robyn

2016-03-01

The perception of eye gaze is crucial for social interaction, providing essential information about another person's goals, intentions, and focus of attention. People with schizophrenia suffer a wide range of social cognitive deficits, including abnormalities in eye gaze perception. For instance, patients have shown an increased bias to misjudge averted gaze as being directed toward them. In this study we probed early unconscious mechanisms of gaze processing in schizophrenia using a technique known as continuous flash suppression. Previous research using this technique to render faces with direct and averted gaze initially invisible reveals that direct eye contact gains privileged access to conscious awareness in healthy adults. We found that patients, as with healthy control subjects, showed the same effect: faces with direct eye gaze became visible significantly faster than faces with averted gaze. This suggests that early unconscious processing of eye gaze is intact in schizophrenia and implies that any misjudgments of gaze direction must manifest at a later conscious stage of gaze processing where deficits and/or biases in attributing mental states to gaze and/or beliefs about being watched may play a role.

MACULAR HOLES, VITELLIFORM LESIONS, AND MIDPERIPHERAL RETINOSCHISIS IN ALPORT SYNDROME.

PubMed

Thomas, Akshay S; Baynham, Justin T; Flaxel, Christina J

2016-01-01

To describe the retinal findings in two cases of Alport syndrome. Observational case series. The clinical findings of the two patients were documented with color fundus photography and high resolution spectral domain optical coherence tomography. Patient 1 was found to have fleck retinopathy in both eyes, inner retinal thinning in the right eye and a full-thickness macular hole in the left eye. Patient 2 was found to have a full-thickness macular hole in the right eye as well as retinoschisis in the temporal macula in the right eye. The left eye revealed inner retinal thinning involving the fovea, a vitelliform lesion of the temporal macula and midperipheral retinoschisis involving multiple retinal layers. Retinal abnormalities including fleck retinopathy, retinal thinning, macular holes, retinoschisis, and vitelliform lesions are variably present in Alport syndrome. This is only the second report of a vitelliform lesion in a patient with Alport syndrome and the first report of midperipheral retinoschisis. The array of retinal findings is believed to reflect a dysfunctional Type IV collagen present in the internal limiting membrane and Bruch membrane.

Single-plane compensatory phase shift of head and eye oscillations in infantile nystagmus syndrome.

PubMed

Anagnostou, Evangelos; Spengos, Konstantinos; Anastasopoulos, Dimitri

2011-09-15

A 43-year-old man with infantile nystagmus syndrome complained of "head tremor" that would occur during attempted reading. Three-dimensional, combined eye and head recordings were performed with the magnetic search coil technique in two conditions: 1) looking straight-ahead under photopic conditions without a particular attentional focus and 2) reading a simple text held one meter away. A mainly vertical-horizontal spontaneous nystagmus was evident in both conditions, whereas head nodding emerged in the second condition. The head oscillated only in the vertical plane and concomitant analysis of eye and head displacement revealed a counterphase, compensatory pattern of the first harmonic of the INS waveform. This was verified by the significant negative peak of the crosscorrelogram at zero lag. Eye-in-space (gaze) displacement during nystagmic oscillations was thereby reduced suggesting a central adaptive behavior that may have evolved to partly compensate for the abnormal eye movements during reading. Copyright © 2011 Elsevier B.V. All rights reserved.

Varenicline and Abnormal Sleep Related Events

PubMed Central

Savage, Ruth L.; Zekarias, Alem; Caduff-Janosa, Pia

2015-01-01

Study Objectives: To assess adverse drug reaction reports of “abnormal sleep related events” associated with varenicline, a partial agonist to the α4β2 subtype of nicotinic acetylcholine receptors on neurones, indicated for smoking cessation. Design: Twenty-seven reports of “abnormal sleep related events” often associated with abnormal dreams, nightmares, or somnambulism, which are known to be associated with varenicline use, were identified in the World Health Organisation (WHO) Global Individual Case Safety Reports Database. Original anonymous reports were obtained from the four national pharmacovigilance centers that submitted these reports and assessed for reaction description and causality. Measurements and Results: These 27 reports include 10 of aggressive activity occurring during sleep and seven of other sleep related harmful or potentially harmful activities, such as apparently deliberate self-harm, moving a child or a car, or lighting a stove or a cigarette. Assessment of these 17 reports of aggression or other actual or potential harm showed that nine patients recovered or were recovering on varenicline withdrawal and there were no consistent alternative explanations. Thirteen patients experienced single events, and two had multiple events. Frequency was not stated for the remaining two patients. Conclusions: The descriptions of the reports of aggression during sleep with violent dreaming are similar to those of rapid eye movement sleep behavior disorder and also nonrapid eye movement (NREM) sleep parasomnias in some adults. Patients who experience somnambulism or dreams of a violent nature while taking varenicline should be advised to consult their health providers. Consideration should be given to clarifying the term sleep disorders in varenicline product information and including sleep related harmful and potentially harmful events. Citation: Savage RL, Zekarias A, Caduff-Janosa P. Varenicline and abnormal sleep related events. SLEEP 2015;38(5):833–837. PMID:25409105

Baseline Prevalence of Birth Defects Associated with Congenital Zika Virus Infection - Massachusetts, North Carolina, and Atlanta, Georgia, 2013-2014.

PubMed

Cragan, Janet D; Mai, Cara T; Petersen, Emily E; Liberman, Rebecca F; Forestieri, Nina E; Stevens, Alissa C; Delaney, Augustina; Dawson, April L; Ellington, Sascha R; Shapiro-Mendoza, Carrie K; Dunn, Julie E; Higgins, Cathleen A; Meyer, Robert E; Williams, Tonya; Polen, Kara N D; Newsome, Kim; Reynolds, Megan; Isenburg, Jennifer; Gilboa, Suzanne M; Meaney-Delman, Dana M; Moore, Cynthia A; Boyle, Coleen A; Honein, Margaret A

2017-03-03

Zika virus infection during pregnancy can cause serious brain abnormalities, but the full range of adverse outcomes is unknown (1). To better understand the impact of birth defects resulting from Zika virus infection, the CDC surveillance case definition established in 2016 for birth defects potentially related to Zika virus infection* (2) was retrospectively applied to population-based birth defects surveillance data collected during 2013-2014 in three areas before the introduction of Zika virus (the pre-Zika years) into the World Health Organization's Region of the Americas (Americas) (3). These data, from Massachusetts (2013), North Carolina (2013), and Atlanta, Georgia (2013-2014), included 747 infants and fetuses with one or more of the birth defects meeting the case definition (pre-Zika prevalence = 2.86 per 1,000 live births). Brain abnormalities or microcephaly were the most frequently recorded (1.50 per 1,000), followed by neural tube defects and other early brain malformations † (0.88), eye abnormalities without mention of a brain abnormality (0.31), and other consequences of central nervous system (CNS) dysfunction without mention of brain or eye abnormalities (0.17). During January 15-September 22, 2016, the U.S. Zika Pregnancy Registry (USZPR) reported 26 infants and fetuses with these same defects among 442 completed pregnancies (58.8 per 1,000) born to mothers with laboratory evidence of possible Zika virus infection during pregnancy (2). Although the ascertainment methods differed, this finding was approximately 20 times higher than the proportion of one or more of the same birth defects among pregnancies during the pre-Zika years. These data demonstrate the importance of population-based surveillance for interpreting data about birth defects potentially related to Zika virus infection.

Sleep abnormalities in children with Dravet syndrome.

PubMed

Dhamija, Radhika; Erickson, Maia K; St Louis, Erik K; Wirrell, Elaine; Kotagal, Suresh

2014-05-01

Mutations in the voltage-gated sodium channel SCN1A gene are responsible for the majority of Dravet syndrome cases. There is evidence that the Nav1.1 channel coded by the SCN1A gene is involved in sleep regulation. We evaluated sleep abnormalities in children with Dravet syndrome using nocturnal polysomnography. We identified six children at our institution with genetically confirmed Dravet syndrome who had also undergone formal sleep consultation with nocturnal polysomnography. Indications for polysomnography were parental concern of daytime fatigue or sleepiness, hyperactivity, inattention, disruptive behavior, nighttime awakenings, or nocturnal seizures. Sleep studies were scored according to guidelines of the American Academy of Sleep Medicine and non-rapid eye movement cyclic alternating pattern was visually identified and scored according to established methods. The mean age of the subjects at the time of polysomnography was 6 years. Standard polysomnography did not show any consistent abnormalities in the obstructive or central apnea index, arousal index, sleep efficiency, or architecture. Cyclic alternating pattern analysis on five patients showed an increased mean rate of 50.3% (vs 31% to 34% in neurological normal children) with a mild increase in A1 subtype of 89.4% (vs 84.5%). A2/A3 subtype (5.3% vs 7.3%) and B phase duration (22.4 vs 24.7 seconds) were similar to previously reported findings in neurologically normal children. Despite parental concerns for sleep disturbance in patients with Dravet syndrome, we could not identify abnormalities in sleep macroarchitecture. Non-rapid eye movement sleep microarchitecture was, however, abnormal, with increased A1 subtype, somewhat resembling a tracé alternant pattern of neonates and possibly suggestive of cortical synaptic immaturity in Dravet syndrome. Larger studies are needed to replicate these results. Copyright © 2014 Elsevier Inc. All rights reserved.

Relationship Between Rates of Binocular Visual Field Loss and Vision-Related Quality of Life in Glaucoma

PubMed Central

Lisboa, Renato; Chun, Yeoun Sook; Zangwill, Linda M.; Weinreb, Robert N.; Rosen, Peter N.; Liebmann, Jeffrey M.; Girkin, Christopher A.; Medeiros, Felipe A.

2013-01-01

Objective To evaluate the relationship between binocular rates of visual field change and vision-related quality of life (VRQOL) in glaucoma. Methods The study included 796 eyes of 398 participants that had diagnosed or suspected glaucoma followed for an average of 7.3 ± 2.0 years. Subjects were recruited from the Diagnostic Innovations in Glaucoma Study (DIGS) and the African Descent and Glaucoma Evaluation Study (ADAGES). VRQOL was evaluated using the National Eye Institute Visual Function Questionnaire (NEI VFQ-25) at the last follow-up visit. Integrated binocular visual fields (BVF) were calculated from the monocular fields of each patient. Linear regression of mean deviation (MD) values was used to evaluate rates of visual field change during the follow-up period. Logistic regression models were used to investigate the relationship between abnormal VRQOL and rates of visual field change, while adjusting for potentially confounding socio-economic and demographic variables. Results Thirty-two patients (8.0%) had abnormal VRQOL as determined by the results of the NEI VFQ-25 questionnaire. Subjects with abnormal VRQOL had significantly faster rates of BVF change than those with normal VRQOL (−0.18 db/year vs. −0.06 dB/year, respectively; P < 0.001). Rates of BVF change were significantly associated with abnormality in VRQOL (OR = 1.31 per 0.1dB/year faster; P = 0.038), after adjustment for confounding variables. Conclusions Patients with faster rates of BVF change were at higher risk of reporting abnormal VRQOL. Assessment of rates of BVF change may provide useful information in determining risk of functional impairment in glaucoma. PMID:23450425

Fundus autofluorescence patterns in primary intraocular lymphoma.

PubMed

Casady, Megan; Faia, Lisa; Nazemzadeh, Maryam; Nussenblatt, Robert; Chan, Chi-Chao; Sen, H Nida

2014-02-01

To evaluate fundus autofluorescence (FAF) patterns in patients with primary intraocular (vitreoretinal) lymphoma. Records of all patients with primary intraocular lymphoma who underwent FAF imaging at the National Eye Institute were reviewed. Fundus autofluorescence patterns were evaluated with respect to clinical disease status and the findings on fluorescein angiography and spectral-domain optical coherence tomography. There were 18 eyes (10 patients) with primary intraocular lymphoma that underwent FAF imaging. Abnormal autofluorescence in the form of granular hyperautofluorescence and hypoautofluorescence was seen in 11 eyes (61%), and blockage by mass lesion was seen in 2 eyes (11%). All eyes with granular pattern on FAF had active primary intraocular lymphoma at the time of imaging, but there were 5 eyes with unremarkable FAF, which were found to have active lymphoma. The most common pattern on fluorescein angiography was hypofluorescent round spots with a "leopard spot" appearance (43%). These hypofluorescent spots on fluorescein angiography correlated with hyperautofluorescent spots on FAF in 5 eyes (36%) (inversion of FAF). Nodular hyperreflective spots at the level of retinal pigment epithelium on optical coherence tomography were noted in 43% of eyes. The hyperautofluorescent spots on FAF correlated with nodular hyperreflective spots on optical coherence tomography in 6 eyes (43%). Granularity on FAF was associated with active lymphoma in majority of the cases. An inversion of FAF (hyperautofluorescent spots on FAF corresponding to hypofluorescent spots on fluorescein angiography) was observed in less than half of the eyes.

Psychogenic Blepharospasm: A Diagnostic Dilemma.

PubMed

DAS, Soumitra; Sreedharan, Roopchand Pandrantil; Remadevi, Prasanth Sudhakaran; Saji, Cheruvallil Velayudhan

2016-12-25

Blepharospasm is an uncontrolled spasmodic contraction of the orbicularis muscles of the eye resulting in an abnormal tic or twitch of eyes. It usually lasts for seconds to minutes but in severe cases eyes may be closed for hours. It may be essentially benign or secondary due to a lesion in basal ganglia, pyramidal tract, and trauma, local pathology in the eyes or drug induced. Here we are presenting a case of psychogenic blepharospasm. A 65 year old woman presented with a history of episodic inability of opening her eyes for the past 6 months. She had repeated abrupt closure of eyes which would persist for 1 hour. It made her socially and interpersonally disabled. Systemic and neurological causes were ruled out by detailed physical examinations and investigations including neuroimaging. Following poor response to oral medications she was injected with 7 units of Botox only in the muscles of the right eye. But within seconds she received relief in both eyes. During the next session she received a needle prick in one eye with no medication and immediately both of her eyes opened from a tightly closed position. In this case the patient reported stress due to increased workload around the house. From our case it depicts that a true movement disorder is often difficult to distinguish from functional disorder. So evaluation and management of patient's external and internal stress will be of immense help before conducting any invasive treatment.

Ocular Sarcoidosis

PubMed Central

Pasadhika, Sirichai; Rosenbaum, James T

2015-01-01

Sarcoidosis is one of the leading causes of inflammatory eye disease. Ocular sarcoidosis can involve any part of the eye and its adnexal tissues, and may cause uveitis, episcleritis/scleritis, eyelid abnormalities, conjunctival granuloma, optic neuropathy, lacrimal gland enlargement and orbital inflammation. Glaucoma and cataract can be complications from inflammation itself or adverse effects from therapy. Ophthalmic manifestations can be isolated, or associated with other organ involvement. Patients with ocular sarcoidosis can present with a wide range of clinical presentations and severity. Multi-disciplinary approaches are required to achieve the best treatment outcomes for both ocular and systemic manifestations. PMID:26593141

CAPILLARY NETWORK ANOMALIES IN BRANCH RETINAL VEIN OCCLUSION ON OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

PubMed

Rispoli, Marco; Savastano, Maria Cristina; Lumbroso, Bruno

2015-11-01

To analyze the foveal microvasculature features in eyes with branch retinal vein occlusion (BRVO) using optical coherence tomography angiography based on split spectrum amplitude decorrelation angiography technology. A total of 10 BRVO eyes (mean age 64.2 ± 8.02 range between 52 years and 76 years) were evaluated by optical coherence tomography angiography (XR-Avanti; Optovue). The macular angiography scan protocol covered a 3 mm × 3 mm area. The focus of angiography analysis were two retinal layers: superficial vascular network and deep vascular network. The following vascular morphological congestion parameters were assessed in the vein occlusion area in both the superficial and deep networks: foveal avascular zone enlargement, capillary non-perfusion occurrence, microvascular abnormalities appearance, and vascular congestion signs. Image analyses were performed by 2 masked observers and interobserver agreement of image analyses was 0.90 (κ = 0.225, P < 0.01). In both superficial and deep network of BRVO, a decrease in capillary density with foveal avascular zone enlargement, capillary non-perfusion occurrence, and microvascular abnormalities appearance was observed (P < 0.01). The deep network showed the main vascular congestion at the boundary between healthy and nonperfused retina. Optical coherence tomography angiography in BRVO allows to detect foveal avascular zone enlargement, capillary nonperfusion, microvascular abnormalities, and vascular congestion signs both in the superficial and deep capillary network in all eyes. Optical coherence tomography angiography technology is a potential clinical tool for BRVO diagnosis and follow-up, providing stratigraphic vascular details that have not been previously observed by standard fluorescein angiography. The normal retinal vascular nets and areas of nonperfusion and congestion can be identified at various retinal levels. Optical coherence tomography angiography provides noninvasive images of the retinal capillaries and vascular networks.

Dry eye syndrome. Etiological and therapeutic aspects.

PubMed

Apostol, Silvia; Filip, M; Dragne, Carmen; Filip, A

2003-01-01

"Dry eye syndrome" is a common disorder of the tear film that results from inadequate tear production, excessive tear evaporation or abnormality in mucin or lipid components of the tear film. A number of 53 patients suffering from dry eye syndrome were followed up for a period of 18 months. The study group was heterogeneous, including a lot of conditions accompanied by dry eye syndrome: Syogren's syndrome, lupus erythematous, ocular rosacea, patients with systemic treatments with antidepressants, betablockers, diuretics, oral contraceptives, glaucomatous patients with topical beta-blockers, postmenopausal women, aging people, computer users and long-term contact lens wearers. The therapeutical options were dictated by the severity of the syndrome: substitution therapy, treatment of the underlying eyelid diseases, modifying of the environmental conditions and treatment of the complications in the most severe cases. The new pathological approach is innovative and it may provide a real therapeutical measure for this condition: topical A Cyclosporine and androgen drops.

Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome.

PubMed

Herwig, Martina C; Loeffler, Karin U; Gembruch, Ulrich; Kuchelmeister, Klaus; Müller, Annette M

2014-01-01

We report anterior segment abnormalities in both eyes of a 33-week-old fetus endorsing the diagnosis of MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome. After abortion, the fetus was examined by a standard pediatric autopsy that included macroscopic and microscopic examination of both eyes. Postmortem findings included craniofacial stigmata (such as hypertelorism, a flat nose and low-set ears) and an agenesis of the corpus callosum. Array comparative genomic hybridization revealed a deletion of the short arm of the X chromosome (region Xp22.2 to p22.32). Ophthalmopathologic examination of the eyes revealed microphthalmia with anterior segment developmental anomalies, in particular sclerocornea and Peters' anomaly, respectively. General pathology findings plus the ocular findings allowed the diagnosis of MIDAS syndrome. A discussion of differential diagnoses is provided. This case report indicates that ophthalmopathologic investigation of fetal eyes can be of great value for the further classification of syndromes.

Treatment of Phthiriasis Palpebrarum and Crab Louse: Petrolatum Jelly and 1% Permethrin Shampoo.

PubMed

Karabela, Yunus; Yardimci, Gurkan; Yildirim, Isik; Atalay, Eray; Karabela, Semsi Nur

2015-01-01

Phthiriasis palpebrarum is an uncommon cause of blepharoconjunctivitis in which Pthirus pubis infest the eyelashes. We report a case of unilateral phthiriasis palpebrarum with crab louse. A 45-year-old man presented with conjunctival hyperaemia and moderate itching associated with irritation, and crusty excretions of the eyelashes in the left eye. Careful slit-lamp examination revealed many lice and nits in left eye and mild conjunctival hyperaemia. No abnormality was found in the right eye. On dermatologic examination, only one louse was found at the pubic area. The patient was treated effectively with petrolatum jelly (Vaseline) and 1% permethrin shampoo (Kwellada 1% shampoo). At the end of the first week no louse or nit was present on eyelashes and pubic area.

RADIATION MALFORMATIONS BELONGING TO THE CYCLOPIA-ARRHINENCEPHALIA- OTECEPHALIA GROUP IN THE MOUSE FETUS

DOE Office of Scientific and Technical Information (OSTI.GOV)

Marakami, U.; Kameyana, Y.; Majima, A.

1962-03-01

Pregnant mice on the 8.5th day of gestation were subjected to 200-r whole-body irradiation and the fetuses were examined on the l3th to l9th day of gestation. Incidence of fetal death (23.0%) was much higher than in the controls (8.2%1, and malformations of the nose, eyes, and ears cecurred in 32%. These malformations included alterations leading to a beaklike snout (19%), a univentricular telencephalon with cyclopia (6%), and forms transitional between these two (6%). These malformations were specific for irradiation on the 8.5th day of gestation; in previous studies they were not prominent when irradiation was carried out on themore » 8th, lOth, or llth day. During this most sensitive developmental stsge at 8.5 days, 3 to 5 brain vesicles are formed and the anterior neuropore is closed, which may account for the greater effect of teratogenic agents on the central nervous system at this time. Other abnormalities included exencephalia 12%), hydrocephalus (4%), microcephalia 10.7%), abnormally shaped head (5%), spinal cord anomalies (6%), eye anomalies (29%1, harelip and cleft palate (12%), tail abnormalities (6%), and thoraco- abdominal hernia (5%). (H.H.D.)« less

RADIATION MALFORMATIONS BELONGING TO THE CYCLOPIA-ARRHINECEPHALIA- OCTOCEPHALIA GROUP IN THE MOUSE FETUS

DOE Office of Scientific and Technical Information (OSTI.GOV)

Murakami, U.; Kameyama, Y.; Majima, A.

1962-03-01

Pregnant mice on the 8 1/2th day of gestation were subjected to 200 r whole-body irradiation and the fetuses were examined on the l3th to l9th day of gestation. Incidence of fetal death (23.0%) was much higher than in the controls (8.2%), and malformations of the nose, eyes, and ears occurred in 32%. These malformations included alterations leading to a beaklike snout (19%), a univentricular telencephalon with cyclopia (6%), and fomas transitional between these two (6%). These malformations were specific for irradiation on the 8 1/2th day of gestation. In previous studies they were not prominent when irradiation was carriedmore » out on the 8th, l0th, or llth day. During this most sensitive developmental stage at 8 1/2 days, 3 to 5 brain vesicles are formed and the anterior neuropore is closed, which may account for the greater effect of teratogenic agents on the central nervous system at this time. Other abnormalities included exencephalia (2%), hydrocephalus (4%), microcephalia (0.7%), abnormally shaped head (5%), spinal cord anomalies (6%), eye anomalies (29%), harelip and cleft palate (l2%), tail abnormalities (6%), and thoraco- abdominal hennia (5%). (H.H.D.)« less

Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature.

PubMed

Tortora, Domenico; Severino, Mariasavina; Accogli, Andrea; Martinetti, Carola; Vercellino, Nadia; Capra, Valeria; Rossi, Andrea; Pavanello, Marco

2017-12-01

PHACE syndrome (Posterior fossa malformations, large cervicofacial infantile Hemangiomas, Arterial anomalies, aortic coarctation and Cardiac abnormalities, and Eye abnormalities) is a neurocutaneous disorder including posterior fossa malformations, hemangiomas, arterial lesions, cardiac defects, and eye abnormalities. PHACE arteriopathies may be progressive and recently have been categorized based on the risk of acute ischemic stroke, increasing attention to the potentially devastating consequences of cerebrovascular complications in this syndrome. In contrast, the natural history of arteriopathy in PHACE syndrome remains poorly understood. At the moment, there are no established surgical guidelines for high-risk vasculopathies, including quasi-moyamoya, in this syndrome. We described the clinicoradiologic features of a small series of 6 patients with PHACE syndrome and quasi-moyamoya (5 female, age range 4 months to 12 years), focusing on the clinical course and surgical outcome of 3 children who were treated with encephaloduroarteriosynangiosis and encephalomyosynangiosis. In addition, we reviewed the radiologic, clinical, and surgical aspects of moyamoya vasculopathy in PHACE syndrome, providing information on 15 additional published cases. Although the natural history of arteriopathy in PHACE syndrome is poorly understood, patients with high-risk vasculopathies, such as quasi-moyamoya disease, may benefit of revascularization by using encephaloduroarteriosynangiosis and encephalomyosynangiosis. Copyright © 2017 Elsevier Inc. All rights reserved.

Trunk Accelerometry Reveals Postural Instability in Untreated Parkinson's Disease

PubMed Central

Mancini, Martina; Horak, Fay B.; Zampieri, Cris; Carlson-Kuhta, Patricia; Nutt, John G.; Chiari, Lorenzo

2017-01-01

While several studies have shown that subjects with advanced Parkinson's disease (PD) exhibit abnormalities in sway parameters during quiet standing, abnormalities of postural sway associated with untreated PD have not been reported. Although not clinically apparent, we hypothesized that spontaneous sway in quiet stance is abnormal in people with untreated PD. We examined 13 subjects, recently diagnosed with PD, who were not yet taking any anti-parkinsonian medications and 12 healthy, age-matched control subjects. Postural sway was measured with a linear accelerometer on the posterior trunk (L5 level) and compared with traditional forceplate measures of sway. Subjects stood for two minutes under two conditions: eyes open (EO) and eyes closed (EC). One of the most discriminative measures of postural changes in subjects with untreated PD was the increased ‘JERK’ of lower trunk in the EO condition, measured with the accelerometer. Root mean square and the frequency dispersion of postural sway in the EO condition also discriminated sway in untreated PD subjects compared to controls subjects. We conclude that accelerometer-based sway metrics could be used as objective measures of postural instability in untreated PD. Accelerometer-based analysis of spontaneous sway may provide a powerful tool for early clinical trials and for monitoring the effects of treatment of balance disorders in subjects with PD. PMID:21641263

Vascular changes on fluorescein angiography of premature infants with low risk of retinopathy of prematurity after high oxygen exposure.

PubMed

Martinez-Castellanos, Maria Ana; Velez-Montoya, Raul; Price, Kenneth; Henaine-Berra, Andree; García-Aguirre, Gerardo; Morales-Canton, Virgilio; Cernichiaro-Espinosa, Linda Alejandra

2017-01-01

To describe a wide array of peripheral vascular changes using fluorescein angiography in preterm neonates, without high risk characteristics for developing retinopathy of prematurity, that were exposed to high oxygen concentration. Retrospective, two center, case series. Newborns at two different hospitals with ≥1500 g or gestational age of ≥32 weeks, fluorescein angiography performed, and with high oxygen exposure without adequate control were included. 294 infants diagnosed with ROP were analyzed. Only 28 eyes from 14 patients with peripheral vascular abnormalities in older and heavier babies were included. Two distinct type of peripheral vascular changes were observed: group 1 or non-proliferative: areas of capillary non-perfusion along with widespread arteriovenous shunting between adjacent primary vessels, tortuosity of primary vessels, abnormal budding of tertiary vessels and capillaries, abnormal capillary tufts and absence of foveal avascular zone; group 2 or proliferative: all of the characteristics of group 1 plus leakage of dye from the boundary between perfused and non-perfused retina and/or optic disc. Peripheral vascular abnormalities different from retinopathy of prematurity are observed in older than 32 weeks of gestational age, and heavier than 1500 g babies. This makes the authors classify these patients as having a disease caused solely by oxygen dysregulation at the neonatal intensive care unit similarly to the oxygen induced retinopathy in experimental studies.

Axial level-specific regulation of neuronal development: lessons from PITX2.

PubMed

Waite, Mindy R; Martin, Donna M

2015-02-01

Transcriptional regulation of gene expression is vital for proper control of proliferation, migration, differentiation, and survival of developing neurons. Pitx2 encodes a homeodomain transcription factor that is highly expressed in the developing and adult mammalian brain. In humans, mutations in PITX2 result in Rieger syndrome, characterized by defects in the development of the eyes, umbilicus, and teeth and variable abnormalities in the brain, including hydrocephalus and cerebellar hypoplasia. Alternative splicing of Pitx2 in the mouse results in three isoforms, Pitx2a, Pitx2b, and Pitx2c, each of which is expressed symmetrically along the left-right axis of the brain throughout development. Here, we review recent evidence for axial and brain region-specific requirements for Pitx2 during neuronal migration and differentiation, highlighting known isoform contributions. © 2014 Wiley Periodicals, Inc.

Clinical impact of migraine for the management of glaucoma patients.

PubMed

Nguyen, Bao N; Lek, Jia Jia; Vingrys, Algis J; McKendrick, Allison M

2016-03-01

Migraine is a common and debilitating primary headache disorder that affects 10-15% of the general population, particularly people of working age. Migraine is relevant to providers of clinical eye-care because migraine attacks are associated with a range of visual sensory symptoms, and because of growing evidence that the results of standard tests of visual function necessary for the diagnosis and monitoring of glaucoma (visual fields, electrophysiology, ocular imaging) can be abnormal due to migraine. These abnormalities are measureable in-between migraine events (the interictal period), despite patients being asymptomatic and otherwise healthy. This picture is further complicated by epidemiological data that suggests an increased prevalence of migraine in patients with glaucoma, particularly in patients with normal tension glaucoma. We discuss how migraine, as a co-morbidity, can confound the results and interpretation of clinical tests that form part of contemporary glaucoma evaluation, and provide practical evidence-based recommendations for the clinical testing and management of patients with migraine who attend eye-care settings. Copyright © 2015 Elsevier Ltd. All rights reserved.

Outer Retinal and Choroidal Evaluation in Multiple Evanescent White Dot Syndrome (MEWDS): An Enhanced Depth Imaging Optical Coherence Tomography Study.

PubMed

Fiore, Tito; Iaccheri, Barbara; Cerquaglia, Alessio; Lupidi, Marco; Torroni, Giovanni; Fruttini, Daniela; Cagini, Carlo

2018-01-01

To perform an analysis of optical coherence tomography (OCT) abnormalities in patients with MEWDS, during the acute and recovery stages, using enhanced depth imaging-OCT (EDI-OCT). A retrospective case series of five patients with MEWDS was included. EDI-OCT imaging was evaluated to detect retinal and choroidal features. In the acute phase, focal impairment of the ellipsoid zone and external limiting membrane, hyperreflective dots in the inner choroid, and full-thickness increase of the choroidal profile were observed in the affected eye; disappearance of these findings and restoration of the choroidal thickness (p = 0.046) was appreciated in the recovery phase. No OCT abnormalities were assessed in the unaffected eye. EDI-OCT revealed transient outer retinal layer changes and inner choroidal hyperreflective dots. A transient increased thickness of the whole choroid was also identified. This might confirm a short-lasting inflammatory involvement of the whole choroidal tissue in the active phase of MEWDS.

Reliability of unaided naked-eye examination as a screening test for cervical lesions in a developing country setup.

PubMed

Darwish, Atef M; Abdulla, Sayed A; Zahran, Kamal M; Abdel-Fattah, Nermat A

2013-04-01

This study aimed to test the reliability of unaided naked-eye examination (UNEE) of the cervix as a sole cervical cancer screening test in a developing country setup compared with the standard cervical cytology. A total of 3,500 nonpregnant women aged between 25 and 55 years were included. An unlubricated bivalve speculum was inserted into the vagina under good light to visualize the cervix. A thorough UNEE of the cervix was done to detect any apparent lesions. Cervical smears were obtained using the long tip of an Ayre spatula. An additional endocervical sample was obtained by cytobrush. Women with abnormal Pap smears or visible cervical lesions by UNEE were scheduled for colposcopic examination. A biopsy specimen was obtained in every abnormal colposcopic examination. Of 3,500 cases, there were 9 (2.57%) preinvasive cervical lesions (cervical intraepithelial neoplasia 1-3) diagnosed with various diagnostic tools used in the study and confirmed by histopathologic examination. Of 3,500 cases, invasive cervical lesions were diagnosed in 6 (1.71%). The sensitivity of UNEE is much better than that of Pap smear (80% vs 60%) but less than that of colposcopy (86.7%). However, the specificity of UNEE (100%) is lower than that of Pap smear (91.16%) and better than that colposcopy (83.12%). The UNEE has a poor positive predictive value (3.75%) when compared with Pap smear (100%) and colposcopy (20%). The negative predictive values of the 3 tests were nearly comparable. Whenever access to Pap smear is limited, UNEE performed by general gynecologists and well-trained nurses is an acceptable alternative for detecting cervical premalignant or malignant lesions especially in low-resource settings.

Oculomotor Deficits in Aryl Hydrocarbon Receptor Null Mouse

PubMed Central

Chevallier, Aline; Mialot, Antoine; Petit, Jean-Maurice; Fernandez-Salguero, Pedro; Barouki, Robert

2013-01-01

The Aryl hydrocarbon Receptor or AhR, a ligand-activated transcription factor, is known to mediate the toxic and carcinogenic effects of various environmental pollutants such as 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD). Recent studies in Caenorhabditis elegans and Drosophila melanogaster show that the orthologs of the AhR are expressed exclusively in certain types of neurons and are implicated in the development and the homeostasis of the central nervous system. While physiological roles of the AhR were demonstrated in the mammalian heart, liver and gametogenesis, its ontogenic expression and putative neural functions remain elusive. Here, we report that the constitutive absence of the AhR in adult mice (AhR−/−) leads to abnormal eye movements in the form of a spontaneous pendular horizontal nystagmus. To determine if the nystagmus is of vestibular, visual, or cerebellar origin, gaze stabilizing reflexes, namely vestibulo-ocular and optokinetic reflexes (VOR and OKR), were investigated. The OKR is less effective in the AhR−/− mice suggesting a deficit in the visuo-motor circuitry, while the VOR is mildly affected. Furthermore, the AhR is expressedin the retinal ganglion cells during the development, however electroretinograms revealed no impairment of retinal cell function. The structure of the cerebellum of the AhR−/− mice is normal which is compatible with the preserved VOR adaptation, a plastic process dependent on cerebellar integrity. Finally, intoxication with TCDD of control adults did not lead to any abnormality of the oculomotor control. These results demonstrate that the absence of the AhR leads to acquired central nervous system deficits in the adults. Given the many common features between both AhR mouse and human infantile nystagmus syndromes, the AhR−/− mice might give insights into the developmental mechanisms which lead to congenital eye disorders. PMID:23301081

α-Melanocyte-stimulating hormone ameliorates ocular surface dysfunctions and lesions in a scopolamine-induced dry eye model via PKA-CREB and MEK-Erk pathways.

PubMed

Ru, Yusha; Huang, Yue; Liu, Huijuan; Du, Juan; Meng, Zhu; Dou, Zexia; Liu, Xun; Wei, Rui Hua; Zhang, Yan; Zhao, Shaozhen

2015-12-21

Dry eye is a highly prevalent, chronic, and multifactorial disease that compromises quality of life and generates socioeconomic burdens. The pathogenic factors of dry eye disease (DED) include tear secretion abnormalities, tear film instability, and ocular surface inflammation. An effective intervention targeting the pathogenic factors is needed to control this disease. Here we applied α-Melanocyte-stimulating hormone (α-MSH) twice a day to the ocular surface of a scopolamine-induced dry eye rat model. The results showed that α-MSH at different doses ameliorated tear secretion, tear film stability, and corneal integrity, and corrected overexpression of proinflammatory factors, TNF-α, IL-1β, and IFN-γ, in ocular surface of the dry eye rats. Moreover, α-MSH, at 10(-4) μg/μl, maintained corneal morphology, inhibited apoptosis, and restored the number and size of conjunctival goblet cells in the dry eye rats. Mechanistically, α-MSH activated both PKA-CREB and MEK-Erk pathways in the dry eye corneas and conjunctivas; pharmacological blockade of either pathway abolished α-MSH's protective effects, suggesting that both pathways are necessary for α-MSH's protection under dry eye condition. The peliotropic protective functions and explicit signaling mechanism of α-MSH warrant translation of the α-MSH-containing eye drop into a novel and effective intervention to DED.

α-Melanocyte-stimulating hormone ameliorates ocular surface dysfunctions and lesions in a scopolamine-induced dry eye model via PKA-CREB and MEK-Erk pathways

PubMed Central

Ru, Yusha; Huang, Yue; Liu, Huijuan; Du, Juan; Meng, Zhu; Dou, Zexia; Liu, Xun; Wei, Rui Hua; Zhang, Yan; Zhao, Shaozhen

2015-01-01

Dry eye is a highly prevalent, chronic, and multifactorial disease that compromises quality of life and generates socioeconomic burdens. The pathogenic factors of dry eye disease (DED) include tear secretion abnormalities, tear film instability, and ocular surface inflammation. An effective intervention targeting the pathogenic factors is needed to control this disease. Here we applied α-Melanocyte-stimulating hormone (α-MSH) twice a day to the ocular surface of a scopolamine-induced dry eye rat model. The results showed that α-MSH at different doses ameliorated tear secretion, tear film stability, and corneal integrity, and corrected overexpression of proinflammatory factors, TNF-α, IL-1β, and IFN-γ, in ocular surface of the dry eye rats. Moreover, α-MSH, at 10−4 μg/μl, maintained corneal morphology, inhibited apoptosis, and restored the number and size of conjunctival goblet cells in the dry eye rats. Mechanistically, α-MSH activated both PKA-CREB and MEK-Erk pathways in the dry eye corneas and conjunctivas; pharmacological blockade of either pathway abolished α-MSH’s protective effects, suggesting that both pathways are necessary for α-MSH’s protection under dry eye condition. The peliotropic protective functions and explicit signaling mechanism of α-MSH warrant translation of the α-MSH-containing eye drop into a novel and effective intervention to DED. PMID:26685899

Coexistence of primary biliary cirrhosis and myasthenia gravis: a case study.

PubMed

Horigome, H; Nomura, T; Saso, K; Joh, T; Ohara, H; Akita, S; Sobue, S; Mizuno, Y; Kato, Y; Itoh, M

2000-01-01

We present a case that suggests a relationship between primary biliary cirrhosis and myasthenia gravis. A 43-year-old Japanese woman was admitted to the Nagoya City University Medical School, First Department of Internal Medicine with abnormal liver function in August 1991. She had had ptosis of the right eye since 1990. She had not been treated for liver disease. Ptosis of the right eye and hepatomegaly were present. Serum laboratory examinations revealed elevated biliary enzymes and IgM levels; tests were positive for antimitochondrial antibody and antiacetylcholine antibody. Liver histology revealed chronic non-suppurative destructive cholangitis and led to a diagnosis of primary biliary cirrhosis. The tensilon test was positive. Electromyography with repetitive motor nerve stimulation revealed a neuromuscular junction defect; i.e., the primary characteristic of myasthenia gravis. The patient was diagnosed with myasthenia gravis. Although the development of myasthenia gravis has previously been reported in patients with primary biliary cirrhosis during D-penicillamine administration, this is a very rare case of the coexistence of both diseases before such treatment.

Morning glory disk anomaly with ipsilateral capillary hemangioma, agenesis of the internal carotid artery, and Horner syndrome: a variant of PHACES syndrome?

PubMed

Puvanachandra, Narman; Heran, Manraj K; Lyons, Christopher J

2008-10-01

We describe a 6-week-old girl with a right upper lid capillary hemangioma, ipsilateral morning glory disk anomaly, microphthalmos, Mittendorf dot, and Horner syndrome. The ipsilateral internal carotid artery was also found to be absent. To our knowledge, this is the first patient to be reported with this group of findings. We suggest that this represents an overlap between morning glory disk and intracranial vascular abnormalities, a recognized association, and PHACES syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye, and sternal abnormalities). We discuss the common embryological basis for these abnormalities, which point to a widespread but highly variable disorder of mesodermal differentiation.

Emulation of Physician Tasks in Eye-Tracked Virtual Reality for Remote Diagnosis of Neurodegenerative Disease.

PubMed

Orlosky, Jason; Itoh, Yuta; Ranchet, Maud; Kiyokawa, Kiyoshi; Morgan, John; Devos, Hannes

2017-04-01

For neurodegenerative conditions like Parkinson's disease, early and accurate diagnosis is still a difficult task. Evaluations can be time consuming, patients must often travel to metropolitan areas or different cities to see experts, and misdiagnosis can result in improper treatment. To date, only a handful of assistive or remote methods exist to help physicians evaluate patients with suspected neurological disease in a convenient and consistent way. In this paper, we present a low-cost VR interface designed to support evaluation and diagnosis of neurodegenerative disease and test its use in a clinical setting. Using a commercially available VR display with an infrared camera integrated into the lens, we have constructed a 3D virtual environment designed to emulate common tasks used to evaluate patients, such as fixating on a point, conducting smooth pursuit of an object, or executing saccades. These virtual tasks are designed to elicit eye movements commonly associated with neurodegenerative disease, such as abnormal saccades, square wave jerks, and ocular tremor. Next, we conducted experiments with 9 patients with a diagnosis of Parkinson's disease and 7 healthy controls to test the system's potential to emulate tasks for clinical diagnosis. We then applied eye tracking algorithms and image enhancement to the eye recordings taken during the experiment and conducted a short follow-up study with two physicians for evaluation. Results showed that our VR interface was able to elicit five common types of movements usable for evaluation, physicians were able to confirm three out of four abnormalities, and visualizations were rated as potentially useful for diagnosis.

Sensory interaction on static balance: a comparison concerning the history of falls of community-dwelling elderly.

PubMed

Ricci, Natalia Aquaroni; de Faria Figueiredo Gonçalves, Daniele; Coimbra, Arlete Maria Valente; Coimbra, Ibsen Bellini

2009-06-01

To determine whether elderly subjects with distinct histories of falls presented differences concerning the influence of sensory interaction on balance. Cross-sectional research. Ninety-six community-dwelling elderly subjects were divided into three groups, according to the history of falls within the past year (group 1, no falls; group 2, one fall; and group 3, recurrent falls). The Clinical Test of Sensory Interaction and Balance was used to evaluate the influence of sensory inputs on standing balance. The test required the subject to maintain stability during 30 s, under six conditions: (i) firm surface with eyes open; (ii) firm surface with eyes closed; (iii) firm surface with visual conflict; (iv) unstable surface with eyes open; (v) unstable surface with eyes closed; and (vi) unstable surface with visual conflict. The time expended on conditions and the number of abnormal cases were compared between groups. Each group was evaluated in relation to its performance in the progression of conditions. More abnormal cases occurred in group 3 compared to group 1 for conditions (iv) and (v); and compared to group 2 for condition (iv). Group 3 remained less time than group 1 under conditions (iv), (v) and (vi). Groups 1, 2 and 3 presented relevant decrements in trial duration from conditions (iv) to (v). For group 3, a significant decay was also noted from condition (i) to (ii). Sensorial interaction in the elderly varies according to their history of falls. Thus, it is possible to correctly guide the rehabilitation process and to prevent sensorial decays according to an individual's history of falls.

Visual Processing during Short-Term Memory Binding in Mild Alzheimer's Disease.

PubMed

Fernández, Gerardo; Orozco, David; Agamennoni, Osvaldo; Schumacher, Marcela; Sañudo, Silvana; Biondi, Juan; Parra, Mario A

2018-01-01

Patients with Alzheimer's disease (AD) typically present with attentional and oculomotor abnormalities that can have an impact on visual processing and associated cognitive functions. Over the last few years, we have witnessed a shift toward the analyses of eye movement behaviors as a means to further our understanding of the pathophysiology of common disorders such as AD. However, little work has been done to unveil the link between eye moment abnormalities and poor performance on cognitive tasks known to be markers for AD patients, such as the short-term memory-binding task. We analyzed eye movement fixation behaviors of thirteen healthy older adults (Controls) and thirteen patients with probable mild AD while they performed the visual short-term memory binding task. The short-term memory binding task asks participants to detect changes across two consecutive arrays of two bicolored object whose features (i.e., colors) have to be remembered separately (i.e., Unbound Colors), or combined within integrated objects (i.e., Bound Colors). Patients with mild AD showed the well-known pattern of selective memory binding impairments. This was accompanied by significant impairments in their eye movements only when they processed Bound Colors. Patients with mild AD remarkably decreased their mean gaze duration during the encoding of color-color bindings. These findings open new windows of research into the pathophysiological mechanisms of memory deficits in AD patients and the link between its phenotypic expressions (i.e., oculomotor and cognitive disorders). We discuss these findings considering current trends regarding clinical assessment, neural correlates, and potential avenues for robust biomarkers.

Bisphenol A causes malformation of the head region in embryos of Xenopus laevis and decreases the expression of the ESR-1 gene mediated by Notch signaling.

PubMed

Imaoka, Susumu; Mori, Tomohiro; Kinoshita, Tsutomu

2007-02-01

Bisphenol A (BpA) is widely used in industry and dentistry. Its effects on the embryonic development of Xenopus laevis were investigated. Xenopus embryos at stage 10.5 were treated with BpA. Developmental abnormalities were observed at stage 35; malformation of the head region including eyes and scoliosis. The expression of several markers of embryonic development was investigated by reverse transcription-polymerase chain reaction (RT-PCR). The pan-neural marker SOX-2, the neural stem cell marker nrp-1, the mesodermal marker MyoD, and the endodermal marker sox17alpha, were used. Although the expression of marker genes was not changed by treatment with BpA, that of Pax-6, a key regulator of the morphogenesis of the eyes, was decreased by BpA. Pax-6 is a downstream factor of Notch signaling. So, the expression of a typical Notch-dependent factor, ESR-1, was investigated in the presence of BpA. The expression of ESR-1 was efficiently suppressed by BpA. In whole mount in situ hybridization (WISH), Pax-6 was expressed in the central nervous system and eyes. The expression was lost completely on treatment with BpA. The expression of ESR-1 in the central nervous system and eyes also disappeared with BpA treatment. Injection of the intracellular domain of Notch efficiently recovered ESR-1 expression in the presence of BpA although injection of a ligand for notch, Delta, did not. These results suggest that BpA decreased the expression of ESR-1 by disrupting the Notch signal.

Peripheral Vision Can Influence Eye Growth and Refractive Development in Infant Monkeys

PubMed Central

Smith, Earl L.; Kee, Chea-su; Ramamirtham, Ramkumar; Qiao-Grider, Ying; Hung, Li-Fang

2006-01-01

PURPOSE Given the prominence of central vision in humans, it has been assumed that visual signals from the fovea dominate emmetropization. The purpose of this study was to examine the impact of peripheral vision on emmetropization. METHODS Bilateral, peripheral form deprivation was produced in 12 infant monkeys by rearing them with diffusers that had either 4- or 8-mm apertures centered on the pupils of each eye, to allow 24° or 37° of unrestricted central vision, respectively. At the end of the lens-rearing period, an argon laser was used to ablate the fovea in one eye of each of seven monkeys. Subsequently, all the animals were allowed unrestricted vision. Refractive error and axial dimensions were measured along the pupillary axis by retinoscopy and A-scan ultrasonography, respectively. Control data were obtained from 21 normal monkeys and 3 infants reared with binocular plano lenses. RESULTS Nine of the 12 treated monkeys had refractive errors that fell outside the 10th- and 90th-percentile limits for the age-matched control subjects, and the average refractive error for the treated animals was more variable and significantly less hyperopic/more myopic (+0.03 ± 2.39 D vs. +2.39 ± 0.92 D). The refractive changes were symmetric in the two eyes of a given animal and axial in nature. After lens removal, all the treated monkeys recovered from the induced refractive errors. No interocular differences in the recovery process were observed in the animals with monocular foveal lesions. CONCLUSIONS On the one hand, the peripheral retina can contribute to emmetropizing responses and to ametropias produced by an abnormal visual experience. On the other hand, unrestricted central vision is not sufficient to ensure normal refractive development, and the fovea is not essential for emmetropizing responses. PMID:16249469

A Comparison of Functional and Structural Measures for Identifying Progression of Glaucoma

PubMed Central

Xin, Daiyan; Greenstein, Vivienne C.; Ritch, Robert; Liebmann, Jeffrey M.; De Moraes, Carlos Gustavo

2011-01-01

Purpose. To compare glaucoma progression by functional and structural tests. Methods. The authors prospectively studied 33 glaucoma patients (55 eyes); 20 eyes (15 patients) had disc hemorrhage, and 35 eyes (18 patients) had exfoliation glaucoma. The following tests were performed at two baseline and three follow-up examinations: frequency doubling perimetry (FDT), 24-2 Humphrey visual fields (HVF), multifocal visual evoked potentials (mfVEP), and optical coherence tomography (OCT). To identify progression, the baseline measurements were averaged and compared to those obtained at the final examination. Stereophotographs of the optic disc were obtained at baseline and compared with those at the final examination. Results. Patients were followed up for 21.1 ± 1.8 months. For HVF there were significant changes in mean deviation (MD) in eight (14.5%) eyes but in pattern standard deviation (P/SD) in only two (3.6%) eyes. For FDT, there were significant changes in MD in 13 (23.6%) eyes. Five eyes showed changes in MD for HVF and FDT. For mfVEP, there was an increase in abnormal points in nine (16.4%) eyes. Six of these eyes did not show significant HVF or FDT changes. For OCT, RNFL average thickness values were significantly decreased in nine (16.4%) eyes. Nine (16.4%) eyes showed progression on stereophotography; four of these eyes did not show significant changes on OCT and functional tests. Conclusions. Each test showed evidence of progression in some eyes. However, agreement among tests and stereophotography regarding which eyes showed progression was poor, illustrating the importance of following up patients with a combination of functional and structural tests. PMID:20847115

Retinal abnormalities in β-thalassemia major.

PubMed

Bhoiwala, Devang L; Dunaief, Joshua L

2016-01-01

Patients with beta (β)-thalassemia (β-TM: β-thalassemia major, β-TI: β-thalassemia intermedia) have a variety of complications that may affect all organs, including the eye. Ocular abnormalities include retinal pigment epithelial degeneration, angioid streaks, venous tortuosity, night blindness, visual field defects, decreased visual acuity, color vision abnormalities, and acute visual loss. Patients with β-thalassemia major are transfusion dependent and require iron chelation therapy to survive. Retinal degeneration may result from either retinal iron accumulation from transfusion-induced iron overload or retinal toxicity induced by iron chelation therapy. Some who were never treated with iron chelation therapy exhibited retinopathy, and others receiving iron chelation therapy had chelator-induced retinopathy. We will focus on retinal abnormalities present in individuals with β-thalassemia major viewed in light of new findings on the mechanisms and manifestations of retinal iron toxicity. Copyright © 2016 Elsevier Inc. All rights reserved.

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Greenberg, F.; Lewis, R.A.; Potocki, L.

1996-03-29

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic neurologic, developmental, ophthalmologic, otolaryngologic, and audiologic evaluations were performed on 27 SMS patients. Significant findings include otolaryngologic abnormalities in 94%, eye abnormalities in 85%, sleep abnormalities (especially reduced REM sleep) in 75%, hearing impairment in 68% (approximately 65% conductive and 35% sensorineural), scoliosis in 65% brain abnormalities (predominantly ventriculomegaly) in 52%, cardiac abnormalities in at least 37%, renal anomalies (especially duplication of themore » collecting system) in 35%, low thyroxine levels in 29%, low immunoglobulin levels in 23%, and forearm abnormalities in 16%. The measured IQ ranged between 20-78, most patients falling in the moderate range of mental retardation at 40-54, although several patients scored in the mild or borderline range. The frequency of these many abnormalities in SMS suggests that patients should be evaluated thoroughly for associated complications both at the time of diagnosis and at least annually thereafter. 42 refs., 2 figs., 3 tabs.« less

Critical Endothelial Regulation by LRP5 during Retinal Vascular Development.

PubMed

Huang, Wei; Li, Qing; Amiry-Moghaddam, Mahmood; Hokama, Madoka; Sardi, Sylvia H; Nagao, Masashi; Warman, Matthew L; Olsen, Bjorn R

2016-01-01

Vascular abnormalities in the eye are the leading cause of many forms of inherited and acquired human blindness. Loss-of-function mutations in the Wnt-binding co-receptor LRP5 leads to aberrant ocular vascularization and loss of vision in genetic disorders such as osteoporosis-pseudoglioma syndrome. The canonical Wnt-β-catenin pathway is known to regulate retinal vascular development. However, it is unclear what precise role LPR5 plays in this process. Here, we show that loss of LRP5 function in mice causes retinal hypovascularization during development as well as retinal neovascularization in adulthood with disorganized and leaky vessels. Using a highly specific Flk1-CreBreier line for vascular endothelial cells, together with several genetic models, we demonstrate that loss of endothelium-derived LRP5 recapitulates the retinal vascular defects in Lrp5-/- mice. In addition, restoring LRP5 function only in endothelial cells in Lrp5-/- mice rescues their retinal vascular abnormalities. Furthermore, we show that retinal vascularization is regulated by LRP5 in a dosage dependent manner and does not depend on LRP6. Our study provides the first direct evidence that endothelium-derived LRP5 is both necessary and sufficient to mediate its critical role in the development and maintenance of retinal vasculature.

Critical Endothelial Regulation by LRP5 during Retinal Vascular Development

PubMed Central

Huang, Wei; Li, Qing; Amiry-Moghaddam, Mahmood; Hokama, Madoka; Sardi, Sylvia H.; Nagao, Masashi; Warman, Matthew L.; Olsen, Bjorn R.

2016-01-01

Vascular abnormalities in the eye are the leading cause of many forms of inherited and acquired human blindness. Loss-of-function mutations in the Wnt-binding co-receptor LRP5 leads to aberrant ocular vascularization and loss of vision in genetic disorders such as osteoporosis-pseudoglioma syndrome. The canonical Wnt-β-catenin pathway is known to regulate retinal vascular development. However, it is unclear what precise role LPR5 plays in this process. Here, we show that loss of LRP5 function in mice causes retinal hypovascularization during development as well as retinal neovascularization in adulthood with disorganized and leaky vessels. Using a highly specific Flk1-CreBreier line for vascular endothelial cells, together with several genetic models, we demonstrate that loss of endothelium-derived LRP5 recapitulates the retinal vascular defects in Lrp5-/- mice. In addition, restoring LRP5 function only in endothelial cells in Lrp5-/- mice rescues their retinal vascular abnormalities. Furthermore, we show that retinal vascularization is regulated by LRP5 in a dosage dependent manner and does not depend on LRP6. Our study provides the first direct evidence that endothelium-derived LRP5 is both necessary and sufficient to mediate its critical role in the development and maintenance of retinal vasculature. PMID:27031698

Ocular Fixation Abnormality in Patients with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Shirama, Aya; Kanai, Chieko; Kato, Nobumasa; Kashino, Makio

2016-01-01

We examined the factors that influence ocular fixation control in adults with autism spectrum disorder (ASD) including sensory information, individuals' motor characteristics, and inhibitory control. The ASD group showed difficulty in maintaining fixation especially when there was no fixation target. The fixational eye movement characteristics of…

Characteristics of eyes with inner retinal cleavage.

PubMed

Hwang, Young Hoon; Kim, Yong Yeon; Kim, Hwang Ki; Sohn, Yong Ho

2015-02-01

Inner retinal cleavage can be misdiagnosed as a glaucomatous retinal nerve fiber layer (RNFL) defect. This study was performed to characterize eyes with inner retinal cleavage. Inner retinal cleavage is defined as the appearance of a dark spindle-shaped space between the nerve fibers. Patients who presented at our institution with inner retinal cleavage were enrolled in the study. All participants were evaluated by fundus examination, visual field testing with standard automated perimetry, and optical coherence tomography (OCT) imaging. A total of 15 eyes of 11 subjects with inner retinal cleavage were included in the study. The median age of the subjects was 57 years (age range, 30-67 years). In each case, inner retinal cleavage was located adjacent to retinal blood vessels. Tissue bridging the cleavage area was observed in ten eyes. Six eyes had epiretinal membranes (ERMs), two eyes had glaucoma, and one eye had ERM in addition to glaucoma. Six eyes with inner retinal cleavage without combined ocular abnormalities had highly myopic refractive error (-6.50 to -8.50 diopters). Cross-sectional OCT images of the areas of inner retinal cleavage demonstrated defects with irregular margins and empty spaces in the inner layers of the retina. During the follow-up period, no eye showed changes in inner retinal layer cleavage or visual field sensitivity. Inner retinal cleavage was found in eyes with high myopia or ERMs. Inner retinal cleavage was associated with structural changes distinct from those associated with glaucomatous RNFL defects.

Correcting highly aberrated eyes using large-stroke adaptive optics.

PubMed

Sabesan, Ramkumar; Ahmad, Kamran; Yoon, Geunyoung

2007-11-01

To investigate the optical performance of a large-stroke deformable mirror in correcting large aberrations in highly aberrated eyes. A large-stroke deformable mirror (Mirao 52D; Imagine Eyes) and a Shack-Hartmann wavefront sensor were used in an adaptive optics system. Closed-loop correction of the static aberrations of a phase plate designed for an advanced keratoconic eye was performed for a 6-mm pupil. The same adaptive optics system was also used to correct the aberrations in one eye each of two moderate keratoconic and three normal human eyes for a 6-mm pupil. With closed-loop correction of the phase plate, the total root-mean-square (RMS) over a 6-mm pupil was reduced from 3.54 to 0.04 microm in 30 to 40 iterations, corresponding to 3 to 4 seconds. Adaptive optics closed-loop correction reduced an average total RMS of 1.73+/-0.998 to 0.10+/-0.017 microm (higher order RMS of 0.39+/-0.124 to 0.06+/-0.004 microm) in the three normal eyes and 2.73+/-1.754 to 0.10+/-0.001 microm (higher order RMS of 1.82+/-1.058 to 0.05+/-0.017 microm) in the two keratoconic eyes. Aberrations in both normal and highly aberrated eyes were successfully corrected using the large-stroke deformable mirror to provide almost perfect optical quality. This mirror can be a powerful tool to assess the limit of visual performance achievable after correcting the aberrations, especially in eyes with abnormal corneal profiles.

Psychogenic Blepharospasm: A Diagnostic Dilemma

PubMed Central

DAS, Soumitra; SREEDHARAN, Roopchand Pandrantil; REMADEVI, Prasanth Sudhakaran; SAJI, Cheruvallil Velayudhan

2016-01-01

Summary Blepharospasm is an uncontrolled spasmodic contraction of the orbicularis muscles of the eye resulting in an abnormal tic or twitch of eyes. It usually lasts for seconds to minutes but in severe cases eyes may be closed for hours. It may be essentially benign or secondary due to a lesion in basal ganglia, pyramidal tract, and trauma, local pathology in the eyes or drug induced. Here we are presenting a case of psychogenic blepharospasm. A 65 year old woman presented with a history of episodic inability of opening her eyes for the past 6 months. She had repeated abrupt closure of eyes which would persist for 1 hour. It made her socially and interpersonally disabled. Systemic and neurological causes were ruled out by detailed physical examinations and investigations including neuroimaging. Following poor response to oral medications she was injected with 7 units of Botox only in the muscles of the right eye. But within seconds she received relief in both eyes. During the next session she received a needle prick in one eye with no medication and immediately both of her eyes opened from a tightly closed position. In this case the patient reported stress due to increased workload around the house. From our case it depicts that a true movement disorder is often difficult to distinguish from functional disorder. So evaluation and management of patient’s external and internal stress will be of immense help before conducting any invasive treatment. PMID:28638211

The relationship between scleral staphyloma and choroidal thinning in highly myopic eyes: The Beijing Eye Study.

PubMed

Zhou, Ling Xiao; Shao, Lei; Xu, Liang; Wei, Wen Bin; Wang, Ya Xing; You, Qi Sheng

2017-08-29

Based on the Beijing Eye Study 2011, a detailed ophthalmic examination was performed including spectral-domain optical coherence tomography (SD-OCT) with enhanced depth imaging for measurement of subfoveal choroidal thickness (SFCT) and relative height of posterior scleral staphyloma. OCT images were obtained in 103 highly myopic eyes (≤-6.00 diopters) and 227 normal eyes. The mean SFCT in highly myopic eyes was 110.6 ± 85.2 μm (range, 3 to 395 μm). The SFCT of high myopia without posterior scleral staphyloma(55 eyes) was 157.79 ± 85.18 μm, which was significantly greater than that (54.94 ± 49.96 μm) of high myopia with posterior scleral staphyloma (48 eyes) (P < 0.001). In multivariate analysis, posterior scleral staphyloma was the most important factor of choroidal thinning in high myopia (F = 22.63; P < 0.001), then age (F = 19.14; P < 0.001), axial length (F = 17.37; P < 0.001) and gender (F = 17.31; P < 0.001). The SFCT in highly myopic eyes is very thin and undergoes further thinning with increasing age and axial length (refractive error). Posterior staphyloma formation was a key factor in choroidal thinning in highly myopic eyes and to be a good indicator for risk management of choroidal thinning. Abnormalities of the choroid may play a role in the pathogenesis of myopic degeneration.

Endothelial Progenitor Cells in Diabetic Microvascular Complications: Friends or Foes?

PubMed

Yu, Cai-Guo; Zhang, Ning; Yuan, Sha-Sha; Ma, Yan; Yang, Long-Yan; Feng, Ying-Mei; Zhao, Dong

2016-01-01

Despite being featured as metabolic disorder, diabetic patients are largely affected by hyperglycemia-induced vascular abnormality. Accumulated evidence has confirmed the beneficial effect of endothelial progenitor cells (EPCs) in coronary heart disease. However, antivascular endothelial growth factor (anti-VEGF) treatment is the main therapy for diabetic retinopathy and nephropathy, indicating the uncertain role of EPCs in the pathogenesis of diabetic microvascular disease. In this review, we first illustrate how hyperglycemia induces metabolic and epigenetic changes in EPCs, which exerts deleterious impact on their number and function. We then discuss how abnormal angiogenesis develops in eyes and kidneys under diabetes condition, focusing on "VEGF uncoupling with nitric oxide" and "competitive angiopoietin 1/angiopoietin 2" mechanisms that are shared in both organs. Next, we dissect the nature of EPCs in diabetic microvascular complications. After we overview the current EPCs-related strategies, we point out new EPCs-associated options for future exploration. Ultimately, we hope that this review would uncover the mysterious nature of EPCs in diabetic microvascular disease for therapeutics.

Electrophysiological signatures of atypical intrinsic brain connectivity networks in autism

NASA Astrophysics Data System (ADS)

Shou, Guofa; Mosconi, Matthew W.; Wang, Jun; Ethridge, Lauren E.; Sweeney, John A.; Ding, Lei

2017-08-01

Objective. Abnormal local and long-range brain connectivity have been widely reported in autism spectrum disorder (ASD), yet the nature of these abnormalities and their functional relevance at distinct cortical rhythms remains unknown. Investigations of intrinsic connectivity networks (ICNs) and their coherence across whole brain networks hold promise for determining whether patterns of functional connectivity abnormalities vary across frequencies and networks in ASD. In the present study, we aimed to probe atypical intrinsic brain connectivity networks in ASD from resting-state electroencephalography (EEG) data via characterizing the whole brain network. Approach. Connectivity within individual ICNs (measured by spectral power) and between ICNs (measured by coherence) were examined at four canonical frequency bands via a time-frequency independent component analysis on high-density EEG, which were recorded from 20 ASD and 20 typical developing (TD) subjects during an eyes-closed resting state. Main results. Among twelve identified electrophysiological ICNs, individuals with ASD showed hyper-connectivity in individual ICNs and hypo-connectivity between ICNs. Functional connectivity alterations in ASD were more severe in the frontal lobe and the default mode network (DMN) and at low frequency bands. These functional connectivity measures also showed abnormal age-related associations in ICNs related to frontal, temporal and motor regions in ASD. Significance. Our findings suggest that ASD is characterized by the opposite directions of abnormalities (i.e. hypo- and hyper-connectivity) in the hierarchical structure of the whole brain network, with more impairments in the frontal lobe and the DMN at low frequency bands, which are critical for top-down control of sensory systems, as well as for both cognition and social skills.

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.

PubMed

Lohmann, Katja; Redin, Claire; Tönnies, Holger; Bressman, Susan B; Subero, Jose Ignacio Martin; Wiegers, Karin; Hinrichs, Frauke; Hellenbroich, Yorck; Rakovic, Aleksandar; Raymond, Deborah; Ozelius, Laurie J; Schwinger, Eberhard; Siebert, Reiner; Talkowski, Michael E; Saunders-Pullman, Rachel; Klein, Christine

2017-07-01

Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum. To elucidate the causal genetic variant in a large US family with co-occurrence of dopa-responsive dystonia as well as skeletal and eye abnormalities (ie, ptosis, myopia, and retina detachment). We examined 10 members of a family, including 5 patients with dopa-responsive dystonia and skeletal and/or eye abnormalities, from a US tertiary referral center for neurological diseases using multiple conventional molecular methods, including fluorescence in situ hybridization and array comparative genomic hybridization as well as large-insert whole-genome sequencing to survey multiple classes of genomic variations. Of note, there was a seemingly implausible transmission pattern in this family due to a mutation-negative obligate mutation carrier. Genetic diagnosis in affected family members and insight into the formation of large deletions. Four members were diagnosed with definite and 1 with probable dopa-responsive dystonia. All 5 affected individuals carried a large heterozygous deletion encompassing all 6 exons of GCH1. Additionally, all mutation carriers had congenital ptosis requiring surgery, 4 had myopia, 2 had retinal detachment, and 2 showed skeletal abnormalities of the hands, ie, polydactyly or syndactyly or missing a hand digit. Two individuals were reported to be free of any disease. Analyses revealed complex chromosomal rearrangements on chromosome 14q21-22 in unaffected individuals that triggered the expansion to a larger deletion segregating with affection status. The expansion occurred recurrently, explaining the seemingly non-mendelian inheritance pattern. These rearrangements included a deletion of GCH1, which likely contributes to the dopa-responsive dystonia, as well as a deletion of BMP4 as a potential cause of digital and eye abnormalities. Our findings alert neurologists to the importance of clinical red flags, ie, unexpected co-occurrence of clinical features that may point to the presence of chromosomal rearrangements as the primary disease cause. The clinical management and diagnostics of such patients requires an interdisciplinary approach in modern clinical-diagnostic care.

Ganglion cell complex scan in the early prediction of glaucoma.

PubMed

Ganekal, S

2012-01-01

To compare the macular ganglion cell complex (GCC) with peripapillary retinal fiber layer (RNFL) thickness map in glaucoma suspects and patients. Forty participants (20 glaucoma suspects and 20 glaucoma patients) were enrolled. Macular GCC and RNFL thickness maps were performed in both eyes of each participant in the same visit. The sensitivity and specificity of a color code less than 5% (red or yellow) for glaucoma diagnosis were calculated. Standard Automated Perimetry was performed with the Octopus 3.1.1 Dynamic 24-2 program. The statistical analysis was performed with the SPSS 10.1 (SPSS Inc. Chicago, IL, EUA). Results were expressed as mean +/- standard deviation and a p value of 0.05 or less was considered significant. Provide absolute numbers of these findings with their units of measurement. There was a statistically significant difference in average RNFL thickness (p=0.004), superior RNFL thickness (p=0.006), inferior RNFL thickness (p=0.0005) and average GCC (p=0.03) between the suspects and glaucoma patients. There was no difference in optic disc area (p=0.35) and vertical cup/disc ratio (p=0.234) in both groups. While 38% eyes had an abnormal GCC and 13% had an abnormal RNFL thickness in the glaucoma suspect group, 98% had an abnormal GCC and 90% had an abnormal RNFL thickness in the glaucoma group. The ability to diagnose glaucoma with macular GCC thickness is comparable to that with peripapillary RNFL thickness . Macular GCC thickness measurements may be a good alternative or a complementary measurement to RNFL thickness assessment in the clinical evaluation of glaucoma. © NEPjOPH.

Varenicline and abnormal sleep related events.

PubMed

Savage, Ruth L; Zekarias, Alem; Caduff-Janosa, Pia

2015-05-01

To assess adverse drug reaction reports of "abnormal sleep related events" associated with varenicline, a partial agonist to the α4β2 subtype of nicotinic acetylcholine receptors on neurones, indicated for smoking cessation. Twenty-seven reports of "abnormal sleep related events" often associated with abnormal dreams, nightmares, or somnambulism, which are known to be associated with varenicline use, were identified in the World Health Organisation (WHO) Global Individual Case Safety Reports Database. Original anonymous reports were obtained from the four national pharmacovigilance centers that submitted these reports and assessed for reaction description and causality. These 27 reports include 10 of aggressive activity occurring during sleep and seven of other sleep related harmful or potentially harmful activities, such as apparently deliberate self-harm, moving a child or a car, or lighting a stove or a cigarette. Assessment of these 17 reports of aggression or other actual or potential harm showed that nine patients recovered or were recovering on varenicline withdrawal and there were no consistent alternative explanations. Thirteen patients experienced single events, and two had multiple events. Frequency was not stated for the remaining two patients. The descriptions of the reports of aggression during sleep with violent dreaming are similar to those of rapid eye movement sleep behavior disorder and also nonrapid eye movement (NREM) sleep parasomnias in some adults. Patients who experience somnambulism or dreams of a violent nature while taking varenicline should be advised to consult their health providers. Consideration should be given to clarifying the term sleep disorders in varenicline product information and including sleep related harmful and potentially harmful events. © 2015 Associated Professional Sleep Societies, LLC.

Baseline Risk Factors that Predict the Development of Open-angle Glaucoma in a Population: The Los Angeles Latino Eye Study

PubMed Central

Jiang, Xuejuan; Varma, Rohit; Wu, Shuang; Torres, Mina; Azen, Stanley P; Francis, Brian A.; Chopra, Vikas; Nguyen, Betsy Bao-Thu

2012-01-01

Objective To determine which baseline socio-demographic, lifestyle, anthropometric, clinical, and ocular risk factors predict the development of open-angle glaucoma (OAG) in an adult population. Design A population-based, prospective cohort study. Participants A total of 3,772 self-identified Latinos aged 40 years and older from Los Angeles, California who were free of OAG at baseline. Methods Participants from the Los Angeles Latino Eye Study had standardized study visits at baseline and 4-year follow-up with structured interviews and a comprehensive ophthalmologic examination. OAG was defined as the presence of an open angle and a glaucomatous visual field abnormality and/or evidence of glaucomatous optic nerve damage in at least one eye. Multivariate logistic regression with stepwise selection was performed to determine which potential baseline risk factors independently predict the development of OAG. Main Outcome Measure Odds ratios for various risk factors. Results Over the 4-year follow-up, 87 participants developed OAG. The baseline risk factors that predict the development of OAG include: older age (odds ratio [OR] per decade, 2.19; 95% confidence intervals [CI], 1.74-2.75; P<0.001), higher intraocular pressure (OR per mmHg, 1.18; 95% CI, 1.10-1.26; P<0.001), longer axial length (OR per mm, 1.48; 95% CI, 1.22-1.80; P<0.001), thinner central cornea (OR per 40 μm thinner, 1.30; 95% CI, 1.00-1.70; P=0.050) higher waist to hip ratio (OR per 0.05 higher, 1.21; 95% CI, 1.05-1.39; P=0.007) and lack of vision insurance (OR, 2.08; 95% CI, 1.26-3.41; P=0.004). Conclusions Despite a mean baseline IOP of 14 mmHg in Latinos, higher intraocular pressure is an important risk factor for developing OAG. Biometric measures suggestive of less structural support such as longer axial length and thin CCT were identified as important risk factors. Lack of health insurance reduces access to eye care and increases the burden of OAG by reducing the likelihood of early detection and treatment of OAG. PMID:22796305

Treatment of Phthiriasis Palpebrarum and Crab Louse: Petrolatum Jelly and 1% Permethrin Shampoo

PubMed Central

Karabela, Yunus; Yardimci, Gurkan; Yildirim, Isik; Karabela, Semsi Nur

2015-01-01

Phthiriasis palpebrarum is an uncommon cause of blepharoconjunctivitis in which Pthirus pubis infest the eyelashes. We report a case of unilateral phthiriasis palpebrarum with crab louse. A 45-year-old man presented with conjunctival hyperaemia and moderate itching associated with irritation, and crusty excretions of the eyelashes in the left eye. Careful slit-lamp examination revealed many lice and nits in left eye and mild conjunctival hyperaemia. No abnormality was found in the right eye. On dermatologic examination, only one louse was found at the pubic area. The patient was treated effectively with petrolatum jelly (Vaseline) and 1% permethrin shampoo (Kwellada 1% shampoo). At the end of the first week no louse or nit was present on eyelashes and pubic area. PMID:26451147

Diagnostic riddles

USGS Publications Warehouse

Sileo, L.; Greiner, E.C.

1993-01-01

A bridled white-eye (Zosterops conspicillata) was captured in a mist net on the island of Saipan and transported to the island of Guam for an experimental study. Beginning on day three, it was immunosuppressed by intramuscular injections of dexamethasone. It was unexpectedly found dead on day 20, at which time it had lost 0.9 g (12.9% of initial body weight). Gross Pathology: Despite the weight loss, the white-eye was in good flesh, with abundant subcutaneous and visceral fat. The spleen was 3 x 11 mm, about 5 times normal size. The striatum of the forebrain was congested. There were no other lesions. Histopathology: There were microscopic abnormalities in skeletal muscle, brain, and gizzard (Figs. 1 and 2; Figure 2 is from a different white-eye which had virtually identical gizzard lesions).

Ultrastructural effects of silicone oil on the clear crystalline lens of the human eye.

PubMed

Soliman, Wael; Sharaf, Mohamed; Abdelazeem, Khaled; El-Gamal, Dalia; Nafady, Allam

2018-03-01

To evaluate light and electron microscopic changes of the anterior capsule and its epithelium after clear lens extraction of vitrectomized myopic eyes with silicone oil tamponade. This prospective, controlled, non-randomized, interventional study included 20 anterior lens capsular specimens that were excised during combined clear lens extraction and silicone oil removal from previously vitrectomized highly myopic patients with silicone oil tamponade for previous retinal detachment surgeries. The specimens were examined via light microscopy and electron microscopy and compared with 20 anterior capsule specimens removed during clear lens extraction of non-vitrectomized highly myopic eyes. Light microscopic examination of clear lens anterior capsule specimens of vitrectomized myopic eyes filled with silicone oil showed relatively more flat cells with irregular outline of lens' epithelial cells with wide intercellular spaces, deeply stained nuclei, and multiple intracytoplasmic vacuoles. Scanning electron microscopy revealed collagenous surfaces filled with multiple pits, depressions, and abnormal deposits. Transmission electron microscopy revealed lens epithelial cells with apoptotic changes, many cytoplasmic vacuoles, and filopodia-like protrusions between lens epithelial cells and the capsule. Epithelial proliferation and multilayering were also observed. silicone oil may play a role in the development of apoptotic and histopathological changes in clear lens epithelial cells. Clarity of the lens at the time of silicone oil removal does not indicate an absence of cataractous changes. We found justification of combined clear lens extraction and silicone oil removal or combined phacovitrectomy when silicone oil injection is planned, but further long-term studies with larger patient groups are required.

In Vivo Confocal Intrinsic Optical Signal Identification of Localized Retinal Dysfunction

PubMed Central

Zhang, Qiu-Xiang; Lu, Rong-Wen; Curcio, Christine A.; Yao, Xin-Cheng

2012-01-01

Purpose. The purposes of this study were to investigate the physiological mechanism of stimulus-evoked fast intrinsic optical signals (IOSs) recorded in dynamic confocal imaging of the retina, and to demonstrate the feasibility of in vivo confocal IOS mapping of localized retinal dysfunctions. Methods. A rapid line-scan confocal ophthalmoscope was constructed to achieve in vivo confocal IOS imaging of frog (Rana pipiens) retinas at cellular resolution. In order to investigate the physiological mechanism of confocal IOS, comparative IOS and electroretinography (ERG) measurements were made using normal frog eyes activated by variable-intensity stimuli. A dynamic spatiotemporal filtering algorithm was developed to reject the contamination of hemodynamic changes on fast IOS recording. Laser-injured frog eyes were employed to test the potential of confocal IOS mapping of localized retinal dysfunctions. Results. Comparative IOS and ERG experiments revealed a close correlation between the confocal IOS and retinal ERG, particularly the ERG a-wave, which has been widely used to evaluate photoreceptor function. IOS imaging of laser-injured frog eyes indicated that the confocal IOS could unambiguously detect localized (30 μm) functional lesions in the retina before a morphological abnormality is detectable. Conclusions. The confocal IOS predominantly results from retinal photoreceptors, and can be used to map localized photoreceptor lesion in laser-injured frog eyes. We anticipate that confocal IOS imaging can provide applications in early detection of age-related macular degeneration, retinitis pigmentosa, and other retinal diseases that can cause pathological changes in the photoreceptors. PMID:23150616

Prenatal Exposure to Maternal Anxiety is Associated with Less Developed Smooth Pursuit Eye Movements in Six-Month-Old Infants: An Initial Study

PubMed Central

Pellegrino, Laurel; Ross, Randal G.; Hunter, Sharon K.

2014-01-01

Aims There are an increasing number of reports suggesting an association between maternal anxiety experienced during pregnancy and adverse outcomes of the offspring. However, exploration of the biological changes in the brain that mediate that relationship has been hampered by the lack of appropriate biomarkers. This report represents an initial step exploring whether a potential infant biomarker, smooth pursuit eye movements, may be associated with prenatal exposure to maternal anxiety. Study Design Blinded cross-sectional study. Place and Duration of Study Department of Psychiatry, University of Colorado School of Medicine. Data collected from July 2011 to May 2012. Methodology Forty-three infants including 34 whose prenatal maternal anxiety status was identified (12 with a known maternal prenatal anxiety diagnosis and 22 without) had eye movements recorded during a smooth pursuit eye movement task at four and/or six months of age. Results At 6 months of age, infants with prenatal exposure to maternal anxiety, compared to infants without such exposure, spent a higher percentage of time utilizing smooth pursuit (t=2.7, df=24, P=.013), had longer duration of smooth pursuit uninterrupted by saccades (t=2.5, df=24, P=.019), and had decreased frequency of forward saccades (t=3.8, df=24, P=.001). No differences between groups were identified at 4 months of age. Conclusion Smooth pursuit abnormalities may, at six months of age, be a potential biomarker for prenatal maternal anxiety exposure. PMID:25558459

Patterns of glaucomatous visual field loss in sita fields automatically identified using independent component analysis.

PubMed

Goldbaum, Michael H; Jang, Gil-Jin; Bowd, Chris; Hao, Jiucang; Zangwill, Linda M; Liebmann, Jeffrey; Girkin, Christopher; Jung, Tzyy-Ping; Weinreb, Robert N; Sample, Pamela A

2009-12-01

To determine if the patterns uncovered with variational Bayesian-independent component analysis-mixture model (VIM) applied to a large set of normal and glaucomatous fields obtained with the Swedish Interactive Thresholding Algorithm (SITA) are distinct, recognizable, and useful for modeling the severity of the field loss. SITA fields were obtained with the Humphrey Visual Field Analyzer (Carl Zeiss Meditec, Inc, Dublin, California) on 1,146 normal eyes and 939 glaucoma eyes from subjects followed by the Diagnostic Innovations in Glaucoma Study and the African Descent and Glaucoma Evaluation Study. VIM modifies independent component analysis (ICA) to develop separate sets of ICA axes in the cluster of normal fields and the 2 clusters of abnormal fields. Of 360 models, the model with the best separation of normal and glaucomatous fields was chosen for creating the maximally independent axes. Grayscale displays of fields generated by VIM on each axis were compared. SITA fields most closely associated with each axis and displayed in grayscale were evaluated for consistency of pattern at all severities. The best VIM model had 3 clusters. Cluster 1 (1,193) was mostly normal (1,089, 95% specificity) and had 2 axes. Cluster 2 (596) contained mildly abnormal fields (513) and 2 axes; cluster 3 (323) held mostly moderately to severely abnormal fields (322) and 5 axes. Sensitivity for clusters 2 and 3 combined was 88.9%. The VIM-generated field patterns differed from each other and resembled glaucomatous defects (eg, nasal step, arcuate, temporal wedge). SITA fields assigned to an axis resembled each other and the VIM-generated patterns for that axis. Pattern severity increased in the positive direction of each axis by expansion or deepening of the axis pattern. VIM worked well on SITA fields, separating them into distinctly different yet recognizable patterns of glaucomatous field defects. The axis and pattern properties make VIM a good candidate as a preliminary process for detecting progression.

Fundus autofluorescence in chronic essential hypertension.

PubMed

Ramezani, Alireza; Saberian, Peyman; Soheilian, Masoud; Parsa, Saeed Alipour; Kamali, Homayoun Koohi; Entezari, Morteza; Shahbazi, Mohammad-Mehdi; Yaseri, Mehdi

2014-01-01

To evaluate fundus autofluorescence (FAF) changes in patients with chronic essential hypertension (HTN). In this case-control study, 35 eyes of 35 patients with chronic essential HTN (lasting >5 years) and 31 eyes of 31 volunteers without history of HTN were included. FAF pictures were taken from right eyes of all cases with the Heidelberg retina angiography and then were assessed by two masked retinal specialists. In total, FAF images including 35 images of hypertensive patients and 31 pictures of volunteers, three apparently abnormal patterns were detected. A ring of hyper-autofluorescence in the central macula (doughnut-shaped) was observed in 9 (25.7%) eyes of the hypertensive group but only in 2 (6.5%) eyes of the control group. This difference was statistically significant (P = 0.036) between two groups. Hypo- and/or hyper-autofluorescence patches outside the fovea were the other sign found more in the hypertensive group (22.9%) than in the control group (6.5%); however, the difference was not statistically significant (P = 0.089). The third feature was hypo-autofluorescence around the disk noticed in 11 (31.4%) eyes of hypertensive patients compared to 8 (25.8%) eyes of the controls (P = 0.615). A ring of hyper-autofluorescence in the central macula forming a doughnut-shaped feature may be a FAF sign in patients with chronic essential HTN.

Postural stability changes during large vertical diplopia induced by prism wear in normal subjects.

PubMed

Matsuo, Toshihiko; Yamasaki, Hanako; Yasuhara, Hirotaka; Hasebe, Kayoko

2013-01-01

To test the effect of double vision on postural stability, we measured postural stability by electric stabilometry before prism-wearing and immediately, 15, 30, and 60min after continuous prism-wearing with 6 prism diopters in total (a 3-prism-diopter prism placed with the base up in front of one eye and with the base down in front of the other eye) in 20 normal adult individuals with their eyes open or closed. Changes in stabilometric parameters in the time course of 60min were analyzed statistically by repeated-measure analysis of variance. When subjectsｾ eyes were closed, the total linear length (cm) and the unit-time length (cm/sec) of the sway path were significantly shortened during the 60-minute prism-wearing (p＜0.05). No significant change was noted in any stabilometric parameters obtained with the eyes open during the time course. In conclusion, postural stability did not change with the eyes open in the condition of large vertical diplopia, induced by prism-wearing for 60min, while the stability became better when measured with the eyes closed. A postural control mechanism other than that derived from visual input might be reinforced under abnormal visual input such as non-fusionable diplopia.

Effect of diabetic retinopathy and panretinal photocoagulation on retinal nerve fiber layer and optic nerve appearance.

PubMed

Lim, Michele C; Tanimoto, Suzana A; Furlani, Bruno A; Lum, Brent; Pinto, Luciano M; Eliason, David; Prata, Tiago S; Brandt, James D; Morse, Lawrence S; Park, Susanna S; Melo, Luiz A S

2009-07-01

To determine if panretinal photocoagulation (PRP) alters retinal nerve fiber layer (RNFL) thickness and optic nerve appearance. Patients with diabetes who did and did not undergo PRP and nondiabetic control subjects were enrolled in a prospective study. Participants underwent optical coherence tomography of the peripapillary retina and optic nerve. Stereoscopic optic nerve photographs were graded in a masked fashion. Ninety-four eyes of 48 healthy individuals, 89 eyes of 55 diabetic patients who did not undergo PRP, and 37 eyes of 24 subjects with diabetes who underwent PRP were included in this study. Eyes that had been treated with PRP had thinner peripapillary RNFL compared with the other groups; this was statistically significantly different in the inferior (P = .004) and nasal (P = .003) regions. Optic nerve cupping did not increase with severity of disease classification, but the proportion of optic nerves graded as suspicious for glaucoma or as having nonglaucomatous optic neuropathy did (P = .008). These grading categories were associated with thinner RNFL measurements. Diabetic eyes that have been treated with PRP have thinner RNFL than nondiabetic eyes. Optic nerves in eyes treated with PRP are more likely to be graded as abnormal, but their appearance is not necessarily glaucomatous and may be related to thinning of the RNFL.

Ultrasonographic biometry of the normal eye of the Persian cat.

PubMed

Mirshahi, A; Shafigh, S H; Azizzadeh, M

2014-07-01

To describe the normal ultrasonographic biometry of the Persian cat's eyes using B-mode ultrasonography. In a cross-sectional study, 20 healthy Persian cats with no history of previous ophthalmic disease were examined. Ocular biometry of the left and right eyes was measured using B-mode ultrasonography. Comparison of the average measurements between left and right eyes and between vertical and horizontal planes was performed using paired-sample t test. Correlation of ocular parameters with sex, age, head circumference and eye colour was evaluated. Mean ± standard deviation (SD) measurements of the ocular structures of anterior chamber, lens thickness, vitreous chamber and anterior to posterior dimension of the globe in 40 eyes were 4.1 ± 0.7, 7.7 ± 0.5, 8.2 ± 0.4 and 20.7 ± 1.0 mm, respectively. No significant difference was found between the ocular biometry of the left and right eyes or the horizontal and vertical planes. Of the ocular parameters, the following had a significant positive correlation with head circumference: axial globe length, anterior chamber and lens thickness. The vitreous body had a positive correlation with age. Regarding the breed predisposition of Persian cats to ocular problems, the present study provides baseline information for further clinical investigations of ocular abnormalities using B-mode ultrasonography. © 2014 Australian Veterinary Association.

Green Light-emitting Diodes Light Stimuli during Incubation Enhances Posthatch Growth without Disrupting Normal Eye Development of Broiler Embryos and Hatchlings.

PubMed

Zhang, L; Zhu, X D; Wang, X F; Li, J L; Gao, F; Zhou, G H

2016-11-01

Monochromatic green light-emitting diodes (LED) light stimuli influences the posthatch growth performance of chicks. This study was undertaken with the following objectives: i) to examine whether the green LED light stimuli induces an overheating effect by determining weight loss rate of fertile eggs during incubation period; ii) to look for the development of eyes and other primary organs at different ages of embryos and newly hatched chicks. Arbor Acres fertile broiler eggs (n = 480) were randomly assigned to 3 incubation groups and exposed to continuous white light, green light, or a dark environment (control) from the first day to 19 d of incubation. The light sourced from LED lamps with the intensity of 30 lx at eggshell level. The results showed that either green or white light stimuli during incubation did not significantly affect the weight loss rate of fertile eggs, hatching time, hatchability, chick embryo, or body weight (BW), the weight percentage of heart, liver, and eyes, as well as obvious systematic abnormalities in eye weight, side-to-side, back-to-front, or corneal diameter from 15 d of embryogenesis to 6 d of posthatch (p>0.05). Compared with the dark condition, green light stimuli during incubation tended to increase feed intake (p = 0.080), improved the BW gain of chicks during 0 to 6 day posthatch (p<0.05), and increased the percentage of pectoral muscle to the BW on 3- and 6-day-old chicks. In addition, embryos or chicks in green light had lower weight percentage of yolk retention on 19 d of embryogenesis and 1 d of posthatch in comparison to those in dark or white group (p<0.05). These results suggest that providing 30 lx green LED light stimuli during incubation has no detrimental effect on the development of eyes, heart and liver of embryos and hatchlings, but does have potential benefits in terms of enhancement of the chick growth during the early posthatch stages. In addition, the fertile broiler eggs stimulated with 30 lx green LED light during incubation does not cause an overheating effect.

Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.

PubMed

Reid, Shaina N; Ziermann, Janine M; Gondré-Lewis, Marjorie C

2015-07-01

Craniofacial malformations are common congenital defects caused by failed midline inductive signals. These midline defects are associated with exposure of the fetus to exogenous teratogens and with inborn genetic errors such as those found in Down, Patau, Edwards' and Smith-Lemli-Opitz syndromes. Yet, there are no studies that analyze contributions of synchronous neurocranial and neural development in these disorders. Here we present the first in-depth analysis of malformations of the basicranium of a holoprosencephalic (HPE) trisomy 18 (T18; Edwards' syndrome) fetus with synophthalmic cyclopia and alobar HPE. With a combination of traditional gross dissection and state-of-the-art computed tomography, we demonstrate the deleterious effects of T18 caused by a translocation at 18p11.31. Bony features included a single developmentally unseparated frontal bone, and complete dual absence of the anterior cranial fossa and ethmoid bone. From a superior view with the calvarium plates removed, there was direct visual access to the orbital foramen and hard palate. Both the eyes and the pituitary gland, normally protected by bony structures, were exposed in the cranial cavity and in direct contact with the brain. The middle cranial fossa was shifted anteriorly, and foramina were either missing or displaced to an abnormal location due to the absence or misplacement of its respective cranial nerve (CN). When CN development was conserved in its induction and placement, the respective foramen developed in its normal location albeit with abnormal gross anatomical features, as seen in the facial nerve (CNVII) and the internal acoustic meatus. More anteriorly localized CNs and their foramina were absent or heavily disrupted compared with posterior ones. The severe malformations exhibited in the cranial fossae, orbital region, pituitary gland and sella turcica highlight the crucial involvement of transcription factors such as TGIF, which is located on chromosome 18 and contributes to neural patterning, in the proper development of neural and cranial structures. Our study of a T18 specimen emphasizes the intricate interplay between bone and brain development in midline craniofacial abnormalities in general. © 2015 Anatomical Society.

A modulatory role of the Rax homeobox gene in mature pineal gland function: Investigating the photoneuroendocrine circadian system of a Rax conditional knockout mouse.

PubMed

Rohde, Kristian; Bering, Tenna; Furukawa, Takahisa; Rath, Martin Fredensborg

2017-10-01

The retinal and anterior neural fold homeobox gene (Rax) controls development of the eye and the forebrain. Postnatal expression of Rax in the brain is restricted to the pineal gland, a forebrain structure devoted to melatonin synthesis. The role of Rax in pineal function is unknown. In order to investigate the role of Rax in pineal function while circumventing forebrain abnormalities of the global Rax knockout, we generated an eye and pineal-specific Rax conditional knockout mouse. Deletion of Rax in the pineal gland did not affect morphology of the gland, suggesting that Rax is not essential for pineal gland development. In contrast, deletion of Rax in the eye generated an anophthalmic phenotype. In addition to the loss of central visual pathways, the suprachiasmatic nucleus of the hypothalamus housing the circadian clock was absent, indicating that the retinohypothalamic tract is required for the nucleus to develop. Telemetric analyses confirmed the lack of a functional circadian clock. Arylalkylamine N-acetyltransferase (Aanat) transcripts, encoding the melatonin rhythm-generating enzyme, were undetectable in the pineal gland of the Rax conditional knockout under normal conditions, whereas the paired box 6 homeobox gene, known to regulate pineal development, was up-regulated. By injecting isoproterenol, which mimics a nocturnal situation in the pineal gland, we were able to induce pineal expression of Aanat in the Rax conditional knockout mouse, but Aanat transcript levels were significantly lower than those of Rax-proficient mice. Our data suggest that Rax controls pineal gene expression and via Aanat may modulate melatonin synthesis. © 2017 International Society for Neurochemistry.