Retinal dystrophy and macular coloboma

Abstract

Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found. The first is a congenital onset pigmentary retinopathy similar in electrophysiologic findings and symptoms to typical Leber's congenital amaurosis; the second appears to be a form of pregressive cone-rod dystrophy with pigmentary retinopathy. Review of the pertinant literature and clinical evidence suggest that both conditions are distinct entities inherited in the autosomal recessive manner.