Mutation Discovered in a Feline Model of Human Congenital Retinal Blinding Disease

Purpose.: To elucidate the gene defect in a pedigree of cats segregating for autosomal dominant rod–cone dysplasia (Rdy), a retinopathy characterized extensively from a clinical perspective. Disease expression in Rdy cats is comparable to that in young patients with congenital blindness (Leber congenital amaurosis [LCA] or retinitis pigmentosa [RP]). Methods.: A pedigree segregating for Rdy was generated and phenotyped by clinical ophthalmic...