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Article

Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.

American journal of ophthalmology - 1 Oct 2024

Zhang Quan, Sun Junran, Liu Zishi, Wang Hong, Zhou Hao, Liu Wenjia, Jia Huixun, Li Ningdong, Li Tong, Wang Fenghua, Sun Xiaodong

Abstract excerpt

PURPOSE: This study aimed to characterize the clinical features, genetic findings, and genotype-phenotype correlations of patients with Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (EOSRD) harboring biallelic AIPL1 pathogenic variants. DESIGN: Retrospective case series. METHODS: This study consecutively enrolled 51 patients from 47 families with a clinical diagnosis of LCA/EOSRD...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38880373
DOI: 10.1016/j.ajo.2024.06.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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