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Article

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).

Orphanet journal of rare diseases - 11 Dec 2020

Skorczyk-Werner Anna, Niedziela Zuzanna, Stopa Marcin, Krawczyński Maciej Robert

Abstract excerpt

BACKGROUND: Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies. To date, 25 genes have been implicated in the pathogenesis of LCA. As gene therapy is becoming available, the identification of potential treatment candidates is crucial. The aim of the study was to report the...

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Identifiers

PMID: 33308271
DOI: 10.1186/s13023-020-01634-y
PMCID: PMC7731562

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