Leber's congenital amaurosis

Abstract

Leber's congenital amaurosis (LCA) is a genetically and clinically heterogeneous syndrome. We present 2 sporadic cases of LCA with blindness before 1 year of age. Both patients had extinguished electroretinograms of cone and rod response. Ocular fundi revealed pigmentary retinopathy. One patient had high hyperopia. No keratoconus, cataract, systemic disease, or hereditary pattern was demonstrated in either boy. This syndrome should be suspected in all congenitally blind children with a flat or markedly diminished electroretinogram.