Article
Mutational analysis and clinical correlation in Leber congenital amaurosis.
Ophthalmic genetics - 1 Sept 2000
Dharmaraj S R, Silva E R, Pina A L, Li Y Y, Yang J M, Carter C R, Loyer M K, El-Hilali H K, Traboulsi E K, Sundin O K, Zhu D K, Koenekoop R K, Maumenee I H
Abstract excerpt
UNLABELLED: Leber congenital amaurosis (LCA, MIM 204001) is a clinically and genetically heterogeneous retinal disorder characterized by severe visual loss from birth, nystagmus, poor pupillary reflexes, retinal pigmentary or atrophic changes, and a markedly diminished electroretinogram (ERG). PU...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.