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Article

Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.

Advances in therapy - 1 Mar 2022

Sallum Juliana M F, Kaur Vinay Preet, Shaikh Javed, Banhazi Judit, Spera Claudio, Aouadj Celia, Viriato Daniel, Fischer M Dominik

Abstract excerpt

INTRODUCTION: Inherited retinal dystrophies (IRDs) represent a genetically diverse group of progressive, visually debilitating diseases. Adult and paediatric patients with vision loss due to IRD caused by biallelic mutations in the 65-kDa retinal pigment epithelium (RPE65) gene are often clinically diagnosed as retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA). This study aimed to understand the...

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PMID: 35098484
DOI: 10.1007/s12325-021-02036-7
PMCID: PMC8918161

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Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.PMID 35098484Read ↗

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