RESEARCHERS AT FLINDERS UNIVERSITY IN SOUTH AUSTRALIA have identified 107 genes that raise glaucoma risk and developed a genetic test to detect individuals at risk of going blind from the disease.

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

The researchers aim to recruit 20,000 people with a family or personal history of the disease to join the Genetics of Glaucoma study to identify more genes that play a role in the condition.

“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,” said Associate Professor Stuart MacGregor, head of QIMR Berghofer Medical Research Institute’s statistical genetics group and co–lead author of the new paper. “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.”

Early detection of glaucoma is crucial because of the unavailability of existing treatments that can restore lost vision. In addition, late presentation is a major risk factor for blindness.


New glaucoma test to help prevent blindness. Flinders University. January 23, 2020. Accessed February 20, 2020.