Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases
R. Schroeder, M. B. Mets and I. H. Maumenee
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.
