Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration

Abstract

BackgroundDefects in retinol dehydrogenase 12 (RDH12) account for 3.4%–10.5 % of Leber congenital amaurosis and early-onset severe retinal dystrophy (EOSRD) and are a potential target for gene therapy. Clinical trials...