Congenital stationary night blindness presenting as Leber's congenital amaurosis.
Two siblings with autosomal-recessive congenital stationary night blindness were clinically blind in infancy. Both had markedly abnormal electroretinograms that, in the first child, led consultants at two university centers to make the diagnosis of Leber's congenital amaurosis. The patients had intermittent nystagmus and esotropia, but good photopic vision developed eventually. Scotopic vision was clearly defective in each child. Refractive error in both patients was close to emetropic in early infancy but became myopic by 1 year of age. Congenital stationary night blindness must be considered in the differential diagnosis of the blind infant.
D001766:Blindness / Q000151:congenital* / Q000175:diagnosis / Q000503:physiopathology; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D004596:Electroretinography; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009755:Night Blindness / Q000151:congenital* / Q000175:diagnosis / Q000503:physiopathology; D013577:Syndrome; D014785:Vision, Ocular / Q000502:physiology