Neurological abnormalities in congenital amaurosis of Leber. Review of 30 cases.
A retrospective study was made of 30 children with Leber's amaurosis (congenital retinal blindness). 24 presented with severe visual impairment, typical ophalmological findings, and absent electroretinograms. 6 other children, though presenting with marked visual loss and absent electroetinograms were later shown to be less severely affected. Some of the more severely affected children had associated neurodevelopmental or renal abnormalities.
D001766:Blindness / Q000151:congenital*; D004596:Electroretinography; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D008297:Male; D001523:Mental Disorders / Q000150:complications; D009422:Nervous System Diseases / Q000150:complications; D012164:Retinal Diseases / Q000150:complications*; D013577:Syndrome