Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy.

ABSTRACT: Early-onset severe retinal dystrophy (EOSRD) is a genetically heterogeneous group of diseases resulting in serious visual disability in children. A significant number of EOSRD cases, often diagnosed as Leber congenital amaurosis (LCA13), are associated with mutations in the gene encoding retinol dehydrogenase 12 (RDH12). RDH12 is a member of the enzyme family of short-chain dehydrogenases/reductases. In the retina, RDH12 plays a critical role in reducing toxic retinaldehydes generated by visual cycle activity that is required for the light response of the photoreceptor cells. Individuals with RDH12 deficiency exhibit widespread retinal degeneration impacting both rods and cones. Although Rdh12-deficient (Rdh12^-/-) mice do not exhibit retinal degeneration, funct

SUBMITTER: Feathers KL 

PROVIDER: S-EPMC6854515 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature