title: Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis.
abstract: We reexamined 75 children in whom Leber's congenital amaurosis had been previously diagnosed. On review, 30 of these patients had an ocular or systemic disorder other than Leber's congenital amaurosis. The most common of these revised diagnoses were congenital stationary night blindness, achromatopsia, infantile-onset retinitis pigmentosa, Joubert's syndrome, Zellweger syndrome, and infantile Refsum's disease. Of the 45 patients with Leber's congenital amaurosis, mental retardation occurred in six patients, and visual deterioration in six patients. Leber's congenital amaurosis should only be diagnosed if other known ocular and systemic disorders have been carefully excluded.
authors.affiliation: Departments of Ophthalmology, Hospitals for Sick Children, London, England.
authors.forename: S R
authors.initials: SR
authors.lastname: Lambert
authors.forename: A
authors.initials: A
authors.lastname: Kriss
authors.forename: D
authors.initials: D
authors.lastname: Taylor
authors.forename: R
authors.initials: R
authors.lastname: Coffey
authors.forename: M
authors.initials: M
authors.lastname: Pembrey
mesh_terms: D001766:Blindness / Q000151:congenital* / Q000175:diagnosis / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D009755:Night Blindness / Q000175:diagnosis; D012164:Retinal Diseases / Q000175:diagnosis; D014792:Visual Acuity