Disease relevance of Rpgrip1

• Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP [1].
• METHODS: An RPGRIP expression cassette, driven by a mouse opsin promoter, was packaged into recombinant adeno-associated virus (AAV) [1].

High impact information on Rpgrip1

• Mice lacking RPGRIP elaborate grossly oversized outer segment disks resembling a cytochalasin D-induced defect and have a more severe disease than mice lacking RPGR [2].
• CONCLUSIONS: AAV-mediated RPGRIP gene replacement preserves photoreceptor structure and function in a mouse model of LCA, despite ongoing cell loss at the time of intervention [1].

Anatomical context of Rpgrip1

• We show that RPGR is absent in the CC of photoreceptors lacking RPGRIP, but not vice versa [2].

Analytical, diagnostic and therapeutic context of Rpgrip1

• These results indicate that gene replacement therapy may be effective in patients with LCA due to a defect in RPGRIP and suggest that further preclinical development of gene therapy for this disorder is warranted [1].

References