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

ABSTRACT:

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 molecular basis of Leber congenital amaurosis in 22 Polish families.

Methods

Single Nucleotide Polymorphism-microarray for LCA genes or Next Generation Sequencing diagnostic panel for LCA genes (or both tests) were performed to identify potentially pathogenic variants. Bidirectional Sanger sequencing was carried out for validation and segregation analysis of the variants iden

SUBMITTER: Skorczyk-Werner A 

PROVIDER: S-EPMC7731562 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature