Abstract
Presentation Description :
Early disease detection and treatment are necessary to preserve vision in glaucoma patients, yet clinical methods lack the ability to pre-symptomatically identify people at risk and many people affected by glaucoma are undiagnosed. Genes that contribute to glaucoma development can be used for genetic testing and risk stratification. More than 100 genetic risk variants influencing primrary open angle glaucoma (POAG) susceptibility have been identified using genome-wide association studies (GWAS). Polygenic risk scores (PRS) derived from genome-wide association studies are proving to be useful for risk stratification, and high genetic burden as defined by PRS can impact disease features as well as interaction with other risk factors. This lecture will review recent POAG GWAS and the clinical features of PRS derived from large multi-ethnic GWAS as well as the proposed clinical utility of PRS to identify individuals with high genetic risk for disease.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.