Norrie's disease: a study of two families.
Norrie's disease, or congenital progressive oculo-acoustico-cerebral degeneration, is a rare X-linked recessive syndrome of retinal malformation, deafness, and mental retardation and/or deterioration. The natural history of the disorder in two families with five affected males, four living and one deceased, is described. The histopathology of two patients, one from each family, is reported. Differential diagnosis, treatment, and genetic counseling are discussed.
D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D005123:Eye / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree