A Novel Missense Norrie Disease Mutation Associated With a Severe Ocular Phenotype

Clinical findings and pedigree analysis led to the diagnosis of severe Norrie disease in two brothers. DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. Less severe retinal developmental disease may be associated with milder mutations in the Norrie disease gene. J Pediatr Ophthalmol Strabismus 2004;41:361–363.