title: Norries disease.
abstract: A 2-month-old male infant was found to have Norrie's disease. The clinical presentation and detailed histological features diagnostic of the disease are discussed. This is the first authentic, histologically proven case of Norrie's disease from India. The absence of hearing loss and mental retardation at the time of presentation at the early stage of infancy and the fact that the case was sporadic do not detract from the diagnosis. However the child at the age of one year developed hearing loss.
authors: Department of Ophthalmology Postgraduate Institute of Medical Education and Research Chandigarh.
authors: J S
authors: JS
authors: Saini
authors: A
authors: A
authors: Sharma
authors: P
authors: P
authors: Pillai
authors: K
authors: K
authors: Mohan
mesh_terms: D001766:Blindness / Q000473:pathology*; D008040:Genetic Linkage; D006312:Hearing Loss, Bilateral / Q000473:pathology*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D012164:Retinal Diseases / Q000473:pathology*; D014960:X Chromosome