Norrie's disease--differential diagnosis and treatment.
A report on six children with Norrie's disease is presented. It is shown that the diagnosis can be established in sporadic cases if the early retrolental opacities are seen, and dementia or psychosis occurs after a normal infancy. Hearing loss is an important diagnostic sign. Children with Norrie's disease are more sensitive to disruption of family relationship than most other congenitally blind children.
D000015:Abnormalities, Multiple; D001766:Blindness / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D006311:Hearing Disorders / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000628:therapy; D008297:Male; D011618:Psychotic Disorders / Q000175:diagnosis / Q000628:therapy; D013577:Syndrome