It’s easier to prevent vision loss when glaucoma is discovered and treated early. To help with early detection, a global research team led by Flinders University scientists is working on a new, genetic test to better identify people at high risk for primary open-angle glaucoma (the most common type of glaucoma). Learn what they’ve discovered so far.

What We Already Know About Who’s at Risk

According to the Mayo Clinic people at increased risk of glaucoma are those:

• Over the age of 60
• Of African, Asian, or Hispanic descent
• With heart disease, high blood pressure, or diabetes
• With thin corneas (your eye’s clear outer layer)
• With a history of eye injury or eye surgery
• Who have used steroids (either as pills or as medicated eye drops) for a long time
• With a family history of glaucoma, particularly a first-degree relative (parent or sibling) 

This last point is important. Glaucoma is one of the most easily-inheritable diseases, more than even heart disease or breast cancer. While some people have a single gene that puts them at risk for glaucoma, there are thousands of eye-related genetic traits that can combine to make glaucoma run so strongly in families.

What the New Study Discovered

The researchers used their new genetic test on the blood and saliva of roughly 2,500 open-angle glaucoma patients from Australia and New Zealand. They also tested it on more than 400,000 people from the U.K., some of whom had glaucoma and some who didn’t. 

When analyzing the results, the researchers made several discoveries:

• Multi-gene risk was more than 6 times more common than single-gene risk among study participants.
• Multi-gene risk is 15 times more common than single-gene risk among the general public. 
• People with single-gene risk and those with multi-gene risk are both more than 2.5 times more likely to develop the disease than people without a genetic risk. 
• Those with single-gene risk and multi-gene risk are almost equally likely to develop the disease. 

Early Detection Is Key

Glaucoma is the world’s leading cause of irreversible blindness, especially in older adults. When caught early, it is usually easily managed to avoid further damage. A simple, accurate test that helps identify more people who are at risk would be a powerful tool. 

“Early diagnosis of glaucoma can lead to vision-saving treatment,” said lead researcher Owen Siggs, Ph.D. in a press release, “and genetic information can potentially give us an edge in making early diagnoses, and better treatment decisions.”

While current glaucoma diagnostic tests don’t include genetic testing, adds senior study author Jamie Craig, Ph.D., “this test has the potential to change that.” According to the authors, the test is now ready for clinical trials. If proven safe and effective, it may help prevent irreversible blindness in millions of people at risk for, and living with, glaucoma.

*Schlingman, J.P. (2022, April 18). Australian Researchers Develop a Superior Genetic Blood or Saliva Test for Detecting Glaucoma in High-risk Individuals. DARK Daily. https://www.darkdaily.com/2022/04/18/australian-researchers-develop-a-superior-genetic-blood-or-saliva-test-for-detecting-glaucoma-in-high-risk-individuals