A team of investigators has found that myopic refractive error is linked with an increased risk of primary open-angle glaucoma, and they indicate that the connection has a genetic foundation.
A team of investigators has found that myopic refractive error is linked with an increased risk of primary open-angle glaucoma (POAG), and they content the connection has a genetic foundation.
The study, published in JAMA Ophthalmology,1 found that it is imperative to identify any factors that could impact a patient’s POAG risk, and those can include pre-existing genetic risks.
As part of their study of genetic links, the investigators conducted their research using methods that rely upon variation in genes with known functions to study causal effects of a modifiable exposure on an outcome. They noted that the study was a 2-sample Mendelian randomly assigned study evaluating the shared genetic influences, and investigating the link of myopic refractive error and POAG.
According to the study, investigators included 154,018 participants from the UK Biobank and Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort.
Investigators also noted that the observational analyses included data for 54,755 non-Hispanic white individuals (31,926 females and 22,829 males), among which were 4,047 POAG patients and 50,708 controls. According to the investigators, POAG patients had a lower refractive mean spherical equivalent and had an increased likelihood to have myopia or high myopia vs. controls (myopia: 40.2% vs. 34.1%; high myopia: 8.5% vs. 6.8%).
Moreover, the investigators pointed out in the study that the genetic correlation analysis found that POAG was genetically correlated with mean spherical equivalent refractive error, myopia and high myopia. They also indicated that genetically assessed refractive mean spherical equivalent typically was negatively linked with a risk of POAG.
The investigators further noted in the paper that the results support the use of refractive error as a metric to help determine the risk of POAG in the general population.
“Currently, general population screening for glaucoma is not recommended in part due to the relatively low prevalence of undetected cases,” the investigators wrote in the paper. “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.
Moreover, the investigators noted that the results also can assist in the clarification of the links between myopic refractive effort and POAG, leading to basing the identification of future POAG risk on refractive error information, which could ultimately lead to earlier diagnosis and preventative strategies for high-risk individuals.
“Clarifying the nature of the association between refractive error and POAG may open new avenues of investigation into specific mechanisms underlying these vision disorders,” investigators concluded.
1. Choquet H, Khawaja AP, Jiang C, et al. Association between myopic refractive error and primary open-angle glaucoma: a 2-sample Mendelian randomization study. JAMA Ophthalmol. Published online July 28, 2022. doi: 10.1001/jamaophthalmol.2022.2762