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Article

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.

Journal of applied genetics - 1 Feb 2023

Skorczyk-Werner Anna, Sowińska-Seidler Anna, Wawrocka Anna, Walczak-Sztulpa Joanna, Krawczyński Maciej Robert

Abstract excerpt

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophies and the most frequent cause of congenital blindness in children. To date, 25 genes have been implicated in the pathogenesis of this rare disorder. Performing an accurate molecular diagnosis is crucial as gene therapy is becoming available. This study aimed to report the molecular basis of Leber congenital amaurosis,...

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Identifiers

PMID: 36369640
DOI: 10.1007/s13353-022-00733-9
PMCID: PMC9837007

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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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