Ocular manifestations of hydroa vacciniforme in a Black child.

PURPOSE: To report the clinical presentation (systemic and ocular) of hydroa vacciniforme in a Black South African child. METHODS: Case report. RESULTS: A 14-year-old Black boy was seen at the corneal service with cutaneous erosions, varioliform scarring, corneal scarring, cicatricial conjunctivitis and central crystalline corneal opacity. CONCLUSION: We report the first case in the literature of ocular hydroa vacciniforme in a young Black South Africa boy.

Assessment of physical inactivity and locomotor dysfunction in adults with visual impairment.

To evaluate the association between vision-related quality of life (QoL), physical inactivity, and locomotor dysfunction in subjects with visual impairment.This cross-sectional study included 215 visually impaired subjects recruited from six ophthalmology departments in Japan. The physical inactivity and locomotor dysfunction associated with their visual impairment was investigated. The physical activity level was assessed using the short form of the International Physical Activity Questionnaire and classified as high, moderate, or low. Locomotor function was evaluated with the Geriatric Locomotive Function Scale. Vision-related QoL was evaluated using the 25-item National Eye Institute Visual Function Questionnaire. Background data, including for age, sex, best-corrected visual acuity for each eye, causative eye diseases, systemic comorbidities, and body mass index, were also collected.The average patient age was 69.6 (range, 20-93 years; standard deviation, 14.5 years) and 118 patients (54.9%) were men. Multivariate analysis showed that vision-related QoL and best-corrected visual acuity in the worse eye were significantly associated with physical inactivity and that vision-related QoL, female sex, age, and presence of systemic comorbidity were significantly associated with locomotor dysfunction. Vision-related quality of life is associated with physical inactivity and locomotor dysfunction.

CCDC102B confers risk of low vision and blindness in high myopia.

The incidence of high myopia is increasing worldwide with myopic maculopathy, a complication of myopia, often progressing to blindness. Our two-stage genome-wide association study of myopic maculopathy identifies a susceptibility locus at rs11873439 in an intron of CCDC102B (P = 1.77 × 10-12 and Pcorr = 1.61 × 10-10). In contrast, this SNP is not significantly associated with myopia itself. The association between rs11873439 and myopic maculopathy is further confirmed in 2317 highly myopic patients (P = 2.40 × 10-6 and Pcorr = 1.72 × 10-4). CCDC102B is strongly expressed in the retinal pigment epithelium and choroids, where atrophic changes initially occur in myopic maculopathy. The development of myopic maculopathy thus likely exhibits a unique background apart from the development of myopia itself; elucidation of the roles of CCDC102B in myopic maculopathy development may thus provide insights into preventive methods for blindness in patients with high myopia.

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.

Dominant optic atrophy (DOA) is a rare progressive and irreversible blinding disease which is one of the most frequent forms of hereditary optic neuropathy. DOA is mainly caused by dominant mutation in the OPA1 gene encoding a large mitochondrial GTPase with crucial roles in membrane dynamics and cell survival. Hereditary optic neuropathies are commonly characterized by the degeneration of retinal ganglion cells, leading to the optic nerve atrophy and the progressive loss of visual acuity. Up to now, despite increasing advances in the understanding of the pathological mechanisms, DOA remains intractable. Here, we tested the efficiency of gene therapy on a genetically-modified mouse model reproducing DOA vision loss. We performed intravitreal injections of an Adeno-Associated Virus carrying the human OPA1 cDNA under the control of the cytomegalovirus promotor. Our results provide the first evidence that gene therapy is efficient on a mouse model of DOA as the wild-type OPA1 expression is able to alleviate the OPA1-induced retinal ganglion cell degeneration, the hallmark of the disease. These results displayed encouraging effects of gene therapy for Dominant Optic Atrophy, fostering future investigations aiming at clinical trials in patients.

Retinal haemorrhages: a clue to the underlying leukaemia.

A 40-year-old man presented with a sudden onset of diminution of vision in his left eye for 2 days. Anterior segment of both eyes was within normal limits. Right eye retinal evaluation was normal. However, the left eye retinal evaluation showed isolated subinternal limiting membrane haemorrhage at the fovea along with a white-centred haemorrhage above the fovea. There was no antecedent history of trauma or valsalva. He was normotensive and his glycaemic status was also normal. His blood investigations along with peripheral smear were done, which helped to clinch the diagnosis of an underlying chronic myeloid leukaemia.

Atrophy of retinal inner layers is associated with poor vision after endophthalmitis: a spectral domain optical coherence tomography study.

PurposeTo investigate the retinal structural changes in endophthalmitis and their association with visual outcome.Patients and methodsForty-five eyes of 45 patients diagnosed with endophthalmitis were included. Spectral domain optical coherence tomography (SD-OCT) was performed after inflammation was controlled. The relationship between SD-OCT features and best-corrected visual acuity (BCVA) at the last follow-up was analyzed.ResultsThe structural changes included inner segment ellipsoid (ISe) disruption (49%), atrophy of retinal inner layers (24%), epimacular membrane (24%), and macular edema (24%). BCVA was worse in patients with ISe disruption (P=0.005) and retinal inner layers' atrophy (P=0.004) compared with those without. There was no significant difference of BCVA between the patients with and without epimacular membrane, or intraretinal cysts. Multivariate regression showed that atrophy of retinal inner layers (b=0.41±0.17, P=0.022) was the only independent factor associated with BCVA.ConclusionAtrophy of retinal inner layers is associated with visual impairment in endophthalmitis, despite successful management.

Individuals with severely impaired vision can learn useful orientation and mobility skills in virtual streets and can use them to improve real street safety.

Virtual reality has great potential in training road safety skills to individuals with low vision but the feasibility of such training has not been demonstrated. We tested the hypotheses that low vision individuals could learn useful skills in virtual streets and could apply them to improve real street safety. Twelve participants, whose vision was too poor to use the pedestrian signals were taught by a certified orientation and mobility specialist to determine the safest time to cross the street using the visual and auditory signals made by the start of previously stopped cars at a traffic-light controlled street intersection. Four participants were trained in real streets and eight in virtual streets presented on 3 projection screens. The crossing timing of all participants was evaluated in real streets before and after training. The participants were instructed to say "GO" at the time when they felt the safest to cross the street. A safety score was derived to quantify the GO calls based on its occurrence in the pedestrian phase (when the pedestrian sign did not show DON'T WALK). Before training, > 50% of the GO calls from all participants fell in the DON'T WALK phase of the traffic cycle and thus were totally unsafe. 20% of the GO calls fell in the latter half of the pedestrian phase. These calls were unsafe because one initiated crossing this late might not have sufficient time to walk across the street. After training, 90% of the GO calls fell in the early half of the pedestrian phase. These calls were safer because one initiated crossing in the pedestrian phase and had at least half of the pedestrian phase for walking across. Similar safety changes occurred in both virtual street and real street trained participants. An ANOVA showed a significant increase of the safety scores after training and there was no difference in this safety improvement between the virtual street and real street trained participants. This study demonstrated that virtual reality-based orientation and mobility training could be as efficient as real street training in improving street safety in individuals with severely impaired vision.

Síndrome de Charles Bonnet secundario a ranibizumab intravítreo en un paciente con degeneración macular asociada a la edad / Charles Bonnet syndrome secondary to intravitreal ranibizumab in a patient with exudative age-related macular degeneration

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Bilateral cloudy cornea: is the usual suspect congenital hereditary endothelial dystrophy or stromal dystrophy?

We provide the diagnosis, treatment and follow-up period of a patient with cloudy cornea in both eyes from birth. A 4-year-old girl presented with blurring in both eyes. Penetrating keratoplasty (PK) was performed with the preliminary diagnosis of congenital hereditary endothelial dystrophy in June 2012. According to the pathology report for extracted host tissue, the Descemet's membrane (DM) and endothelium were healthy and diagnosis was reported to be congenital hereditary stromal dystrophy. Deep anterior lamellar keratoplasty was performed on the left eye. The DM was transparent at follow-up. Cornea transplantation is the only choice to provide visual rehabilitation in children with congenital cloudy cornea. However, it is known that the prognosis of traditional PK in the paediatric age group is not good. Therefore, when using alternative keratoplasty (deep anterior lamellar keratoplasty, Descemet's stripping automated endothelial keratoplasty) options, pathological examination of the host tissue should be made.

CENTRAL VISUAL PHENOMENA AS CLUES TO VITREOMACULAR TRACTION IN PATIENTS WITH NORMAL FUNDUS OCULI.

PURPOSE: To report two cases where the primary visual complaints were central visual phenomena, with normal fundus biomicroscopy. METHODS: History and clinical examination, fundus autofluorescence, and spectral domain-optical coherence tomography. RESULTS: The authors report 2 patients, a 66-year-old woman and a 77-year-old woman, who complained of a central visual disturbance in one eye. Best-corrected visual acuity was normal. Ophthalmoscopy in the first case was unremarkable and showed minimal retinal pigment epithelial mottling in Case 2. Spectral domain-optical coherence tomography revealed vitreomacular traction with foveal distortion in both eyes, associated with small cysts in the inner retinal layers and in one patient disruption of photoreceptors. CONCLUSION: Central visual phenomena are important clues for central vitreomacular traction, even in the presence of a normal fundus examination. The authors highlight the importance of performing spectral domain-optical coherence tomography evaluation in this setting before considering neurologic or systemic causes.

The occurrence of visual and cognitive impairment, and eye diseases in the super-elderly in Japan: a cross-sectional single-center study.

BACKGROUND: The current state of eye diseases and treatments in the elderly as well as the relationships between dementia and systemic diseases remain unclear. Therefore, this study evaluated the prevalence of eye diseases, visual impairment, cognitive impairment, and falls (which are an important health issue and are considered one of the Geriatric Giants) in super-elderly people in Japan. METHODS: The subjects were 31 elderly people (62 eyes; mean age: 84.6 ± 8.8 years; age range 61-98 years) who were admitted to a geriatric health services facility. Eye treatment status, systemic diseases, dementia, and recent falls were investigated. Eye examinations including vision and intraocular pressure measurement, and slit-lamp biomicroscopy were conducted. RESULTS: Mean best corrected visual acuity (logMAR) was 0.51 ± 0.56, and mean intraocular pressure was 13.7 ± 3.5 mmHg. Approximately half of the subjects exhibited excavation of the optic nerve head including cataracts and glaucoma. Ten subjects had visual impairment (i.e., visual acuity of the eye with the better vision <20/40). The mean Hasegawa dementia scale scores between the visually impaired and non-visually impaired groups were 10.2 ± 6 and 16 ± 8 points, respectively (p < 0.05). Furthermore, 70% of subjects with visual impairment experienced a fall in the past year compared to 48% of those without visual impairment, although the difference was not significant. Regarding systemic diseases, there were 6, 5, and 15 cases of diabetes, hyperlipidemia, and hypertension, respectively. There was no significant difference between these systemic diseases and visual function after adjusted for age and gender. CONCLUSIONS: The percentages of patients with age-related eye diseases and poor visual acuity in a geriatric health services facility were extremely high. Compared to those without visual impairment, those with visual impairment had lower dementia scores and a higher rate of falls.

New mode for measuring axial length with an optical low-coherence reflectometer in eyes with dense cataract.

PURPOSE: To evaluate a new algorithm for measuring eyes with dense cataract using a biometer based on optical low-coherence reflectometry (OLCR). SETTING: Shammas Eye Medical Center, Lynwood, California, USA, and Augenarztpraxis EYEC, Bern, Switzerland. DESIGN: Cross-sectional retrospective study. METHODS: Data were collected from 2 sites where the new Dense Cataract Measurement mode for the OLCR optical biometer (Lenstar LS 900) had been implemented. Related ultrasound (US) data for patients whose eyes could not be measured with optical biometry were also collected where available. The percentage of eyes that were measurable in the new mode that were not measurable in the standard mode was calculated. The quality of the measurements by the new mode was evaluated using postoperative axial length measurements and/or concurrent US measurements, where available. RESULTS: Data for 4791 eyes were available for analysis. Axial length measurement was possible using the standard algorithm in 94.4% of cases. The use of the new mode allowed for measurement of an additional 4.0% of cases, a statistically significant increase (P < .001). Comparisons of AL measurements with concurrent US or postoperative optical biometry showed high correlations, with the 95% limits of agreement of -0.47 to +0.29 mm, similar to results for standard measurements. CONCLUSIONS: The new measurement mode of the OLCR system provided a significant increase in the number of eyes that could be measured with optical biometry. Axial length measurements using the new mode appeared as reliable as those made using the standard measurement mode. FINANCIAL DISCLOSURE: No author has a financial or proprietary interest in any material or method mentioned.

Bevacizumab intravítreo en neovascularización coroidea asociada a enfermedad de Best / Intravitreal bevacizumab for choroidal neovascularization associated with Best's disease

CASO CLÍNICO: Mujer de 27 años que presentaba disminución de visión en ojo derecho (20/200). El examen funduscópico reveló una hemorragia intrarretiniana macular con desprendimiento neurosensorial en ojo derecho, y un depósito de material viteliforme en el ojo izquierdo. La angiografía fluoresceínica y el electrooculograma confirmaron el diagnóstico de neovascularización coroidea asociada a enfermedad de Best. Cuatro semanas después de una única inyección de bevacizumab intravítreo, la agudeza visual a la normalidad (20/25) y se mantuvo estable tras 12 meses de seguimiento. DISCUSIÓN: El bevacizumab intravítreo puede ser una opción terapéutica eficaz en la neovascularización coroidea secundaria a enfermedad de Best

CASE REPORT: A 27-year old woman presented with loss of vision in the right eye (20/200). Ophthalmoscopic examination showed intrarretinal hemorrhage in the macular region with neurosensory detachment in the right eye, and viteliform deposit on the left eye. Fluorescein angiography and the electrooculogram confirmed the diagnosis of choroidal neovascularization associated with Best's disease. Four weeks after a single bevacizumab intravitreal injection, visual acuity was restored (20/25) and remained stable after a 12 month follow-up. DISCUSSION: Intravitreal bevacizumab appears to be an effective treatment for choroidal neovascularization associated to Best's disease

Neonatal presentation of incontinentia pigmenti with a family history extending over four generations--a case report.

We report a case of Incontinentia pigmenti (IP). A day 2 female presented to the special care nursery with seizures. EEG showed multifocal epileptiform discharges and cranial MRI revealed extensive cerebral infarction. A rash appeared shortly after birth. Eye examination revealed changes of IP. There is a strong family history of IP. Genetic testing excluded the most common mutation. Follow-up reveals significant development delay.

Ganglion cell layer-inner plexiform layer thickness and vision loss in young children with optic pathway gliomas.

PURPOSE: To determine if measures of macular ganglion cell layer-inner plexiform layer (GCL-IPL) thickness can discriminate between children with and without vision loss (visual acuity or field) from their optic pathway glioma (OPG) using spectral-domain optical coherence tomography (SD-OCT). METHODS: Children with OPGs (sporadic or secondary to neurofibromatosis type 1) enrolled in a prospective study of SD-OCT were included if they were cooperative for vision testing and macular SD-OCT images were acquired. Manual segmentation of the macular GCL-IPL and macular retinal nerve fiber layer (RNFL) was performed using elliptical annuli with diameters of 1.5, 3.0, and 4.5 mm. Logistic regression assessed the ability of GCL-IPL and RNFL thickness measures (micrometers) to differentiate between the normal and abnormal vision groups. RESULTS: Forty-seven study eyes (normal vision = 31, abnormal vision = 16) from 26 children with OPGs were included. Median age was 5.3 years (range, 2.5-12.8). Thickness of all GCL-IPL and RNFL quadrants differed between the normal and abnormal vision groups (P < 0.01). All GCL-IPL measures demonstrated excellent discrimination between groups (area under the curve [AUC] > 0.90 for all diameters). Using the lower fifth percentile threshold, the number of abnormal GCL-IPL inner macula (3.0 mm) quadrants achieved the highest AUC (0.989) and was greater than the macula RNFL AUCs (P < 0.05). CONCLUSIONS: Decreased GCL-IPL thickness (

Focal damage to macaque photoreceptors produces persistent visual loss.

Insertion of light-gated channels into inner retina neurons restores neural light responses, light evoked potentials, visual optomotor responses and visually-guided maze behavior in mice blinded by retinal degeneration. This method of vision restoration bypasses damaged outer retina, providing stimulation directly to retinal ganglion cells in inner retina. The approach is similar to that of electronic visual protheses, but may offer some advantages, such as avoidance of complex surgery and direct targeting of many thousands of neurons. However, the promise of this technique for restoring human vision remains uncertain because rodent animal models, in which it has been largely developed, are not ideal for evaluating visual perception. On the other hand, psychophysical vision studies in macaque can be used to evaluate different approaches to vision restoration in humans. Furthermore, it has not been possible to test vision restoration in macaques, the optimal model for human-like vision, because there has been no macaque model of outer retina degeneration. In this study, we describe development of a macaque model of photoreceptor degeneration that can in future studies be used to test restoration of perception by visual prostheses. Our results show that perceptual deficits caused by focal light damage are restricted to locations at which photoreceptors are damaged, that optical coherence tomography (OCT) can be used to track such lesions, and that adaptive optics retinal imaging, which we recently used for in vivo recording of ganglion cell function, can be used in future studies to examine these lesions.

Autoimmune hypophysitis presenting with intracranial multi-organ involvement: three case reports and review of the literature.

BACKGROUND: Autoimmune hypophysitis very rarely spreads to nearby organs outside the pituitary tissue, for unknown reasons, with only 5 reported cases of hypophysitis spreading over the cavernous sinus. CASE PRESENTATION: Three patients presented with cases of non-infectious hypophysitis spreading outside the pituitary tissue over the cavernous sinus. All three cases were diagnosed with histological confirmation by transsphenoidal surgery, and the patients showed remarkable improvement with postoperative pulse dose steroid therapy, including disappearance of abnormal signal intensities in the bilateral hypothalami on magnetic resonance imaging, resolution of severe stenosis of the internal carotid artery, and normalization of swollen pituitary tissues. Two of 3 cases fulfilled the histological criteria of immunoglobulin G4-related disease, although none of the patients had high serum immunoglobulin G4 level. CONCLUSION: The true implications of such unusual spreading of hypophysitis to nearby organs are not fully understood, but the mechanism of occurrence might vary according to the timing of inflammation in this unusual mode of spreading. Pulse dose steroid therapy achieved remarkably good outcomes even in the patient with progressive severe stenosis of the internal carotid artery and rapid visual deterioration.