Replacement Gene Therapy with a Human RPGRIP1 Sequence Slows Photoreceptor Degeneration in a Murine Model of Leber Congenital Amaurosis

摘要

Genetic defect in RPGR-interacting protein 1 (RPGRIP1) is a known cause of Leber congenital amaurosis (LCA), a severe, inherited form of retinal degeneration. Here, Pawlyk et al. report results from studies evaluating the efficacy of AAV8-mediated replacement gene therapy in a mouse model of LCA carrying a targeted disruption of RPGRIP1.