Numerous Genes Contribute to Risk for Glaucoma


Researchers have identified 107 genes that increase a person’s risk of developing glaucoma, and they have developed a genetic test to detect those at risk of going blind from it. The research, led by QIMR Berghofer Medical Research Institute and Flinders University in Australia, has been published in the international Nature Genetics journal.

For the first time, genetic information from tens of thousands of people around the world has been compiled to develop this type of test. The new test means glaucoma can be more accurately predicted using a single blood or saliva sample.

Once accredited for use, the test will improve physicians’ ability to predict and prevent vision loss from glaucoma, researchers say. It will also guide the age at which screening for glaucoma should start, and the level of risk to other family members.

Lead researcher and head of QIMR Berghofer’s Statistical Genetics Group, Associate Professor Stuart MacGregor, PhD, says identifying the new genes has allowed the researchers to develop a glaucoma polygenic risk score (PRS) that can predict who is likely to get the eye disease.

“Glaucoma is a genetic disease and the best way to prevent the loss of sight from glaucoma is through early detection and treatment,” said MacGregor in a news release. “Our study found that by analyzing DNA collected from saliva or blood, we could determine how likely a person was to develop the disease and who should be offered early treatment and/or monitoring. Importantly, unlike existing eye health checks based on eye pressure or optic nerve damage, the genetic test can be done before damage begins so regular screening can be put in place.”