Article
Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations.
Ophthalmic genetics - 1 Jan 2000
Cassiman Catherine, Spileers Werner, De Baere Elfride, de Ravel Thomy, Casteels Ingele
Abstract excerpt
Enhanced S-cone syndrome is a rare, slowly progressive autosomal recessively inherited retinal degeneration related to mutations in the NR2E3 gene. Patients often present with night blindness, visual loss and visual field abnormalities. Patients with enhanced S-cone syndrome exhibit a variable clinical phenotype associated with various degrees of pigmentary changes and foveal schisis. We report a 14-month-old boy...
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