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March 1987

Leber's Congenital AmaurosisRetrospective Review of 43 Cases and a New Fundus Finding in Two Cases

Author Affiliations

From the Department of Ophthalmology, University of Chicago Hospitals and Clinics (Drs Schroeder and Mets); and The Johns Hopkins Hospital, Baltimore (Dr Maumenee).

Arch Ophthalmol. 1987;105(3):356-359. doi:10.1001/archopht.1987.01060030076030

• Leber's congenital amaurosis is a hereditary clinical disorder that may be associated with several different diseases. This study consists of a retrospective review of 43 cases. Twenty of our patients had fundus appearances that resembled retinitis pigmentosa. Five had normal-appearing fundi. The remainder had other, previously reported fundus abnormalities, with the exception of two patients who demonstrated a new fundus finding, a nummular pigmentary pattern. Other associated eye anomalies included cataracts, keratoconus, ptosis, and strabismus. The most frequent systemic associations were mental retardation, cystic renal disease, skeletal disorders, and hydrocephalus.