purpose: to report a case of hermansky-pudlak syndrome (hps). case report: a 7-year-old boy presented with marked generalized hypopigmentation, eye deviation and nystagmus. in addition he had history of easy bruising. visual acuity was 20/200. he had markedly translucent green irides, hypermetropic astigmatism, horizontal nystagmus and marked exotropia. funduscopy revealed a hypopigmented retin...

PURPOSE Enhanced depth imaging (EDI) spectral-domain optical coherence tomography (SD OCT) has been recognized as the most sensitive tool to diagnose optic nerve head drusen (ONHD). The relationship between OCT characteristics and visual loss has not been well documented. This study compares EDI SD OCT-determined morphologic characteristics of drusen in eyes with or without visual field (VF) de...

PURPOSE To analyze the occurrence of near infrared (NIR) fluorescence in relation to NIR reflectance, blue-light-excited autofluorescence, angiograms, and funduscopy. METHODS Observational consecutive case series in patients with macular diseases. Imaging was performed with a confocal scanning laser ophthalmoscope for NIR reflectance, blue-light-excited autofluorescence, NIR fluorescence, and...

During a 2-year period, 31 cases of a hereditary retinal degeneration in dogs bred in India were found mainly suspected for progressive retinal atrophy (PRA) with typical history of initial nyctalopia followed by hemeralopia. Out of 31 PRA suspected dogs, 8 dogs (26%) were from the age group of 1-5 years, 15 (48%) 6-10 years and the rest (26%) 11-15 years. The most predominant breed was Spitz (...

Background: Neuromyelitis optica (NMO) is an in?ammatory demyelinating autoimmune disease of the central nervous system that most commonly affects optic nerves and spinal cord. Seropositive antiAQP4 differentiates NMO from MS presence manifestation in postrema, brainsteam or diencephalic areas extend to Spectrum Disorder (NMOSD). Case Description: A 18 years old male complain sudden vision loss...

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional protein leads to ectopic mineralization that most apparent elastic tissues skin, eyes, and blood vessels. Dermatologic manifestations consist small yellow papules on nape sides neck flexural areas coalesce into reticu...

PURPOSE Retinal vein occlusion (RVO) has been investigated in several laser-induced animal models using pigs, rabbits and rats. However, laser-induced RVO has been rarely reported in mice, despite the impressive number of available mutants, ease of handling and cost effectiveness. The aim of this study was to further assess the feasibility of a RVO mouse model for gene expression analysis and i...

We read with great interest the paper by McCoy et al. validating the neurological hemifield test (NHT) to detect and classify visual field loss caused by chiasmal or postchiasmal lesions. In this paper, more than 60% of glaucoma eyes misclassified as neurological according to the NHT score criterion had binasal defects. Therefore, interpreting binasal hemianopia is a particular challenge. To em...