Myopic Refractive Error Genetically Associated With Primary Open-Angle Glaucoma

Myopic refractive error (RE) is associated with primary open-angle glaucoma (POAG), and these 2 factors share a genetic foundation, according to a study published in JAMA Ophthalmology. 

Investigators enrolled 54,755 participants (100% White) consisting of individuals with POAG (n=4047; mean age, 73.63±9.20 years; 53.4% women) and control individuals (n=50,708; mean age, 65.38±12.24 years; 58.7% women) in an observational analysis to assess the correlation between POAG risk and mean spherical equivalent (MSE) RE. Patients were drawn from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. Genetic overlap was quantified using genome-wide association studies (GWAS) of MSE RE or myopia and POAG based on GERA.

The investigators found that participants with POAG had a lower refractive MSE and were more likely to exhibit myopia (40.2% vs 34.1%; P <.001) or high myopia (8.5% vs 6.8%; P =.004) compared with control participants. 

On genetic analysis, POAG was genetically linked with MSE RE (P <.001), myopia (P =.004), and high myopia (P =.01). Genetically assessed refractive MSE negatively correlated with POAG risk (Odds Ratio [OR] per diopter more hyperopic MSE, 0.94; 95% CI, 0.89-0.99; P =.01).

“Our results support the use of RE as a metric to help stratify risk of POAG in the general population,” according to the researchers. “Currently, general population screening for glaucoma is not recommended, in part due to the relatively low prevalence of undetected cases. Understanding which factors increase risk of POAG can help inform strategies for identifying glaucoma-enriched populations for targeted screening, which would lead to earlier diagnosis and preventative strategies for high-risk individuals.”

Study limitations include failure to understand the underlying molecular biology and pathways behind the established associations and a failure to include individuals who were not of White ethnicity.