Urgent appeal to advance glaucoma genetic test to save sight

19 December 2023

QIMR Berghofer is appealing for public support this Christmas to advance a remarkable test that could save the eyesight of many thousands of Australians by preventing irreversible blindness caused by glaucoma.

The groundbreaking saliva-based genetic test shines the light on glaucoma by detecting who is at high risk long before there are any physical signs of disease, so they can receive treatment in time to preserve their sight.

QIMR Berghofer Glaucoma Christmas Appeal

Funding is urgently needed for a large-scale trial to help make this test available to all in the community.

There is no cure for glaucoma, but treatments can slow disease progression if caught in time. The problem is glaucoma is a ‘silent thief of sight’. It is extremely difficult to detect in the early stages. Half of all people with glaucoma are unaware they have it until it has already caused permanent loss of vision.

QIMR Berghofer’s Professor Stuart MacGregor said glaucoma is one of the most highly heritable of all human diseases so our genes are a vital early warning system.

“Over the past twenty years we’ve uncovered more than 300 genes linked to glaucoma. We’ve now turned those discoveries into a genetic test that predicts those at high risk of developing the disease, known as a polygenic risk score,” Professor MacGregor said.

“This test would mean the right people can receive the right treatment at the right time. Our dream is that no one goes blind because of glaucoma. We want this test to be available to all but we urgently need funds to make this happen.”

Glaucoma is the leading cause of irreversible blindness globally, affecting more than 300,000 Australians and 75 million people worldwide.

(From Left) Patricia Jones, Shannon Ryan and Professor Stuart MacGregor

The disease blocks the natural release of fluid in the eye creating a build-up of pressure that damages the optic nerve. Peripheral vision is lost first but the brain compensates. By the time the vision loss becomes obvious it is too late to reverse the damage.

If detected early it can be treated with eye drops, laser and surgery to reduce the build-up of pressure in the eye and protect the optic nerve.

Professor MacGregor knows too well the heartbreaking impact that glaucoma can have.

“My own mother has glaucoma. Her poor vision caused her to trip and fall earlier this year and it took months for her injuries to heal. It is a terrible disease that robs people of their ability to work, drive, read, and see the faces of their loved ones,” Prof MacGregor said.

By the time Kyogle grandmother Patricia Jones noticed something was wrong, it was too late. Her vision loss was permanent. She has now had to sell her home and move into town because she can no longer drive.

“The loss of independence and the financial impact just as I was retiring has been dramatic. I struggle to read to my granddaughters and I worry the day will come when I won’t be able to see their precious faces,” Ms Jones said.

“My son is only 40 and he’s been diagnosed as well. He’s able to have aggressive treatments to protect his sight. If I’d known about my risk earlier I might have had those too.

Please support this research. It could mean that other families learn about their risk in time. The sight you save could even be your own.”

Until now all patients suspected of being at risk of glaucoma are monitored as high risk, even though they might actually have a low probability of ever developing the disease. This one-size-fits-all approach has led to a significant burden on clinical resources and long waiting lists for specialist care. The cost of glaucoma to the Australian economy is forecast to hit $870 million a year by 2025.

Optometrist Ken Ingram from George and Matilda Eye Care said the genetic test would completely change the paradigm of how glaucoma is managed because monitoring and treatment could be personalised and tailored to the patient.

“Glaucoma is difficult to detect even in the clinic. By the time we can see the physical changes in the eye it’s often too late and vision has already been lost.

“If we know who is at highest risk and needs to be targeted early, it will prevent so much heartache. It will save time and money. It will save sight,” Mr Ingram said.

The researchers hope to make the genetic test widely available to all Australians as a new population screening program, similar to the National Bowel Cancer Screening Program.

This requires large-scale studies to build an extensive evidence base that meets strict criteria.

“We know the test is effective as an early diagnostic tool thanks to the studies we’ve already done. But we now must build evidence of the economic and public health benefits through multiple trials,” Professor MacGregor said.

“One of those studies is vital to advance our knowledge of how to efficiently prevent glaucoma in people with family history of glaucoma, but we urgently need the generous support of the public to make this happen.”

The sub-study will involve people with a family history of glaucoma identified as high risk of developing the disease by the genetic test. It will measure the outcomes of those who receive the existing standard level of care versus those who receive early intervention with a specialised treatment plan.

To find out more about the QIMR Berghofer Christmas appeal to help save sight, visit


Ann Rainbow
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