Novel RDH12 sequence variations in Leber congenital amaurosis.

Leber congenital amaurosis (LCA) designates a severe congenital retinal dystrophy generally inherited in an autosomal-recessive manner and accounting for 5% of inherited retinopathies. Its main clinical features are severe visual loss, sensory nystagmus, amaurotic pupils, and unrecordable electroretinographic response. LCA has been associated with sequence variations of 14 different genes; in approximately 30% of all cases pathogenic mutations remain to be determined. We report 2 patients with a clinical phenotype of LCA associated with novel mutations of the RDH12 gene. Copyright (c) 2010 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.