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Molecular genetics and gene therapy of X-linked congenital retinoschisis

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Author:: No author available

Journal Title:: Chinese Journal of Ocular Fundus Diseases

Issue:: 6

DOI:: 10.3760/cma.j.issn.1005-1015.2016.06.027

Key Word:: 视网膜劈裂症/遗传学;基因疗法;综述;Retinoschisis/genetics;Gene Therapy;Review

Abstract： X-linked retinoschisis (XLRS) is a rare X-linked inherited retinal disorder,caused by mutations in retinoschisin 1 (RS1) gene.Three XLRS mice were established,providing ideal systems to study the mechanism and treatment methods for XLRS.RS1 gene mutations can induce abnormal secretion or adhesion function of RS1 protein.In the past year,phase Ⅰ clinical trials for XLRS has begun in USA,using adeno associated virus (AAV,AAV8 or AAV2)-mediated gene delivery.With the rapid development of new generation of AAV vector that can transduce more retinal cells through intravitreous delivery,gene therapy for XLRS will have a brighter future.

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