• 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.
Schroeder R, Mets MB, Maumenee IH. Leber's Congenital AmaurosisRetrospective Review of 43 Cases and a New Fundus Finding in Two Cases. Arch Ophthalmol. 1987;105(3):356-359. doi:10.1001/archopht.1987.01060030076030