Researchers in Australia have developed a genetic test that can identify people at up to ten times the normal risk of developing open-angle glaucoma, the most common form of the disease and the leading cause of irreversible blindness worldwide.
The test, developed by researchers at QIMR Berghofer and Flinders University with international collaborators, uses a polygenic risk score, which combines the effects of millions of genetic variations into a single measure of a person’s inherited risk. The researchers built the new score using genetic data from more than six million people, including almost 300,000 people with glaucoma. The previous version of the test, published in 2020, was based on about 8,000 glaucoma cases.
In Australians of European ancestry, people in the highest 10 per cent of genetic risk were ten times more likely to have glaucoma than everyone else, compared with about a fourfold increase identified by the earlier test. The study also found that people in the highest 10 per cent of genetic risk developed glaucoma about 25 years earlier, on average, than those in the lowest 10 per cent.
The test also helped predict how severe the disease would become. In a long-term study of people with suspected or early glaucoma, 24 per cent of those in the highest-risk group required glaucoma surgery by the age of 80, compared with none in the lowest-risk group. It also identified patients more likely to need intensified treatment and to have affected family members, and it added substantial predictive value beyond eye pressure measurements, the most commonly assessed glaucoma risk factor.
Glaucoma damages the optic nerve and usually has no symptoms in its early stages. About half of all people with glaucoma remain undiagnosed, even in countries with good access to eye care, and because lost vision cannot be restored, early detection is critical. Lead researcher Stuart MacGregor, head of QIMR Berghofer’s Statistical Genetics Laboratory, said the test could help clinicians decide who would benefit from closer monitoring and earlier treatment, while reducing unnecessary testing for those at lower risk.
The researchers tested the score across people of European, African, East Asian, South Asian and Hispanic ancestry. While it identified higher-risk groups in all populations, performance was strongest in people of European ancestry, reflecting the greater availability of large genetic data sets from those populations. The researchers say further studies are needed to assess the cost-effectiveness of incorporating the test into targeted glaucoma screening programmes.
Sources: Medical Xpress, “New test identifies people at higher risk of glaucoma, the leading cause of irreversible blindness”, 13 November 2026 — https://medicalxpress.com/news/2026-11-people-higher-glaucoma-irreversible.html ; findings published in Ophthalmology (2026), DOI: 10.1016/j.optha.2026.10.013.
