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Gene replacement therapy restores RCBTB1 expression and cilium length in patient‐derived retinal pigment epithelium

7 Oct 2021

Abstract excerpt

Biallelic mutations in the RCBTB1 gene cause retinal dystrophy. Here, we characterized the effects of RCBTB1 gene deficiency in retinal pigment epithelial (RPE) cells derived from a patient with RCBTB1-associated retinopathy and restored RCBTB1 expression in these cells using adeno-associated viral (AAV) vectors. Induced pluripotent stem cells derived from a patient with compound heterozygous RCBTB1 mutations...

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PMID: 34617687
DOI: 10.1111/jcmm.16911

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