Retinal Dystrophies and the Road to Treatment | 合法醫療器材資訊網

由MTalib著作·2020·被引用4次—Themostcommonformofmaculardystrophy,Stargardtdisease,...andisnotassociatedwithsymptomsorpigmentaryretinalchanges.

An autosomal recessive inheritance mode is observed in 50% to 60% of all RP cases,2,8 and in most cases of Leber congenital amaurosis.9 The most common form of macular dystrophy, Stargardt disease, is inherited in the autosomal recessive form.10 After the success of subretinal gene therapy in RPE65-associated RDs, which has led to the market approval of Luxturna by the Food and Drug Administration,11 preclinical and clinical (gene) therapy studies are ongoing for several genes responsible for autosomal recessive RD subtypes, such as ABCA4, CNGA3, CNGB3, PDE6B, RLBP1, MERTK, and MYO7A.12

Particularly interesting advances have been made in RDs caused by mutations in the CRB1 gene,6 which account for 3% to 9% of nonsyndromic cases of autosomal recessive RP,13 and 7% to 17% of Leber congenital amaurosis (LCA) cases.13,14 With the ongoing development of hu...