Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity.

ABSTRACT:

Importance

Understanding the pathogenic mechanisms of Fuchs endothelial corneal dystrophy (FECD) could contribute to developing gene-targeted therapies.

Objective

To investigate associations between demographic data and age at first keratoplasty in a genetically refined FECD cohort.

Design, setting, and participants

This retrospective cohort study recruited 894 individuals with FECD at Moorfields Eye Hospital (London) and General University Hospital (Prague) from September 2009 to July 2023. Ancestry was inferred from genome-wide single nucleotide polymorphism array data. CTG18.1 status was determined by short tandem repeat and/or triplet-primed polymerase chain reaction. One or more expanded alleles (≥50 repeats) were classified as expansion-positive (Exp+). Expansio

SUBMITTER: Liu S 

PROVIDER: S-EPMC11907363 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature