A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy

A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy

ABSTRACT Background Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a rare, heterogeneous, genetic eye disease associated with severe congenital visual impairment. RPE65, one of the causative genes for LCA, encodes retinoid isomerohydrolase, an enzyme that p...

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Bibliographic Details
Main Authors: Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
exome sequencing
gene therapy
Leber congenital amaurosis
RPE65
uniparental Isodisomy
Online Access:https://doi.org/10.1002/mgg3.70060
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