Congenital stationary night blindness (CSNB), apparently inherited in an autosomal recessive manner, was observed in a litter of Briard dogs in Sweden. Of nine litter mates five had nyctalopia. The results of different clinical tests, including electroretinography (ERG), were compared with the results found in four human cases of CSNB, three of which were most probably associated with autosomal...

Vitamin A deficiency is the leading cause of childhood blindness worldwide. It is most prevalent in developing countries, with the World Health Organization estimates of approximately 228 million children affected by moderate to severe deficiency. At greatest risk are the malnourished children born to vitamin A–deficient mothers, particularly if they are affected concurrently by other biologica...

Retinitis pigmentosa (RP) is a progressive inherited retinal disease characterized by nyctalopia, visual field constriction, and reduced full-field electroretinograms. The progressive loss of photoreceptors leads to vision loss at the end stage of RP. The prevalence of RP is approximately 1/4,000. Since it is one of the major causes of visual impairment worldwide, morphological and functional a...

Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...

OBJECTIVE To assess the relationship between the phenotype of the "visual snow" syndrome, comorbid migraine, and typical migraine aura on a clinical basis and using functional brain imaging. BACKGROUND Patients with "visual snow" suffer from continuous TV-static-like tiny flickering dots in the entire visual field. Most patients describe a syndrome with additional visual symptoms of the follo...

The approval of voretigene neparvovec-rzyl by the US Food and Drug Administration (FDA), in December 2017, marked the beginning of a new era in medicine in which many inherited diseases will be essentially corrected by gene therapy. Voretigene neparvovec-rzyl, with the trade name of Luxturna, is the first gene therapy for an inherited disease. It is intended for the treatment of RPE65 mutation-...

It is sometimes helpful to investigate the etiology of lesions of the visual path centripetally, starting at the periphery. This ap­ proach enabled Carr and Ripps to show that Oguchi's disease cannot be due to a failure in visual pigment kinetics, and Carr and as­ sociateshave similarly established that le­ sions causing congenital nyctalopia are situ­ ated on the central side of the receptor o...

Report of a Case. A 73-year-old man was referred for nyctalopia in January 1994. He denied having photopsias. His medical history was significant for metastatic cutaneous melanoma that was in remission. His bestcorrected visual acuity was 20/30 OU. Slitlamp examination results were unremarkable. Funduscopic examination showed multiple neurosensory and retinal pigment epithelial (RPE) detachment...

BACKGROUND Classic retinitis pigmentosa (RP) and other syndromic variants have previously been associated to Fuchs' heterochromic iridocyclitis (FHI). Common immunogenic and inflammatory pathways have been proposed to explain the higher incidence of this uveitic phenomenon in patients with retinal dystrophies without definitive answers. Infrequent variants of RP such as inverse RP have not been...

Introduction: Hunter syndrome or mucopolysaccharidosis type II is a rare progressive multi-systemic disorder, caused by an abnormal storage of glycosaminoglycans (GAGs) in almost every cell type, including most ocular tissues [1,2]. Patients have a short life expectancy and ocular manifestations can be present early in the course of disease [1,2]. Purpose: To report the fundus autofluorescence ...