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Article

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

International journal of molecular sciences - 3 Jun 2024

Moya Rene, Angée Clémentine, Hanein Sylvain, Jabot-Hanin Fabienne, Kaplan Josseline, Perrault Isabelle, Rozet Jean-Michel, Fares Taie Lucas

Abstract excerpt

Leber congenital amaurosis (LCA)/early-onset severe retinal dystrophy (EOSRD) stand as primary causes of incurable childhood blindness. This study investigates the clinical and molecular architecture of syndromic and non-syndromic LCA/EOSRD within a Chilean cohort (67 patients/60 families). Leveraging panel sequencing, 95.5% detection was achieved, revealing 17 genes and 126 variants (32 unique). CRB1, LCA5, and...

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Identifiers

PMID: 38892339
DOI: 10.3390/ijms25116151
PMCID: PMC11172861

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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