Genome-wide association study of corneal dystrophy uncovers novel risk loci and enables improved polygenic prediction of Fuchs endothelial corneal dystrophy
Benyapa Insawang, David Anthony Mackey, Alex William Hewitt, Jamie E. Craig, Richard Mills, Puya Gharahkhani, Stuart MacGregor
This paper identifies 24 risk loci for corneal dystrophy, constructs polygenic risk scores (PRS) and STR-based models, and shows PRS improves FECD prediction, while STR expansion is the strongest predictor.
Investigative Ophthalmology & Visual Science · Aug 17, 2026Peer-reviewedGenetic & Genomic Medicine