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A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa.

Genetic testing and molecular biomarkers - 1 Aug 2023

Dai Chao, Ren Weiming, Wei Yao, Xie Chunbao, Duan Suyang, Li Qi, Jiang Lingxi, Shi Yi

Abstract excerpt

Background: Retinitis pigmentosa (RP) is a complex inherited and progressive degenerative retinal disease. The eyes shut homolog (EYS) is frequently associated with RP is surprisingly high. Exploring the function of EYS is quite difficult due to the unique gene size and species specificity. Gene therapy may provide a breakthrough to treat this disease. Therefore, exploring and clarifying pathogenic mutations of...

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PMID: 37643323
DOI: 10.1089/gtmb.2023.0016

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