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Article

Personalized Pathogenicity Assessment of RPE65 Gene Mutations Using Patient-Specific hiPSC-Derived Retinal Pigment Epithelium Model.

International journal of molecular sciences - 23 Jun 2026

Ye Ke, Zhang Suai, Xu Ping, Song Xiaojing, Wang Yuan, Zhong Xiufeng

Abstract excerpt

RPE65, an isomerohydrolase expressed in retinal pigment epithelium (RPE), is critical for the visual cycle. More than 115 missense variants of the RPE65 gene have been associated with Leber's congenital amaurosis (LCA), a severe childhood retinal dystrophy. Due to high genetic heterogeneity, the variant-specific pathogenic mechanisms remain largely uncharacterized. In this study we focus on an LCA patient...

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Identifiers

PMID: 42449920
DOI: 10.3390/ijms27135643
PMCID: PMC13361107

Genes

RPE65
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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