Neurological abnormalities in congenital amaurosis of Leber. Review of 30 cases

Abstract

A retrospective study was made of 30 children with Leber's amaurosis (congenital retinal blindness). 24 presented with severe visual impairment, typical ophthalmological findings, and absent electroretinograms, 6 other children, though presenting with marked visual loss and absent electroretinograms were later shown to be less severely affected. Some of the more severely affected children had associated neurodevelopmental or renal abnormalities.