Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.

Ophthalmic genetics(2023)

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摘要
USH2A was the most commonly affected RP gene in this East Asian cohort, although sub-population analysis revealed distinct genotype prevalence patterns. While the genotypes are similar between East Asia and European cohorts, variants are specific to East Asia. The identification of several prevalent variants in USH2A and EYS provides an opportunity for the development of therapeutics that are relevant for East Asia patients.
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关键词
Retinitis pigmentosa,gene therapy,genotyping,inherited retinal disease,retinal cell therapy
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