Sub-Retinal AAV-RS1 Gene Therapy for X Linkage Retinoschisis: One Year Follow Up (Pre-recorded video)

Fang LuChina Speaker Sub-retinal AAV-RS1 gene therapy for X linkage retinoschisis: one year follow upDepartment of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, China State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, Sichuan University and Collaborative Innovation Center, Chengdu, Sichuan, China X-linked retinoschisis (XLRS) is a rare congenital disease of the retina caused by mutations in the RS1 gene, which encodes retinoschisin, a protein involved in intercellular adhesion and likely retinal cellular organization. With a prevalence of about 1 in 15,000 to 30,000, XLRS is one of the main causes of juvenile macular degeneration in males. Previous gene therapy showed significant structure and function promotion in animal research, however, failed to achieve significant efficacy in clinical trials in XLRS patients with intra-vitreal delivery. Here we report the efficacy and safety of a small sample trial with sub-retinal delivery of AAV carrying human RS1 gene in 12 pediatric XLRS patients.