Norrie's disease.
Norrie's disease is an X-linked disease presenting bilateral blindness at birth or during the first few months of life. A white retrolental membrane is seen initially, later the eyes usually become phthisic. Dementia or psychosis appears in about 25% and sensory hearing loss present in 1/5 or 1/4 of the blind males. Carriers are clinically unaffected. The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked microphthalmia, sex-linked cataract and congenital retinal detachment.
D000015:Abnormalities, Multiple / Q000209:etiology; D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000151:congenital* / Q000209:etiology / Q000473:pathology; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003704:Dementia / Q000150:complications; D003937:Diagnosis, Differential; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D005134:Eye Neoplasms / Q000175:diagnosis; D006311:Hearing Disorders; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D009900:Optic Nerve / Q000473:pathology; D010375:Pedigree; D011618:Psychotic Disorders / Q000150:complications; D012175:Retinoblastoma / Q000175:diagnosis; D013577:Syndrome