Professor Tan, a now-retired academic, urges everyone to get involved in a genetic study that has found 44 new genetic links for glaucoma.
There is a strong link to glaucoma in Professor Tan’s family, with her grandmother losing her sight throughout her life due to the condition, which was not managed correctly. A number of her uncles had glaucoma, and her younger brother lost most of his sight.
Knowing this, she frequently went for check-ups but found that her ophthalmologist in Brisbane did not follow it up despite having high eye pressure – a sign of glaucoma risk. “It was only when I moved to the Gold Coast, and at that point, I changed my ophthalmologist, and immediately he said, “you’ve got optic nerve damage, and you need to be put on drops immediately,” she said. “Knowing what I know now, I would have left sooner and got treatment, but I didn’t know.”
Fortunately, Professor Tan’s glaucoma was in the early stages, and she has had minimal degradation, but her experience highlights how little can still be done about the insidious disease. The disease is the leading cause of blindness, with an estimated 75 million people. It causes a slow, almost imperceptible degradation of eyesight and is cumulative.
It has no cure, and all treatments merely halt the progress of the disease; they cannot reverse it. An international research effort led by QIMR Berghofer Medical Research Institute and Harvard Medical School has identified 44 more genes with direct links to glaucoma, adding to the 83 already identified. QIMR’s Professor Stuart MacGregor said the finding would initially allow researchers to predict a person’s risk of glaucoma more accurately.
“We’re trying to use knowledge of the genetic information to improve detection and treatment of glaucoma,” he said. “Having a parent with glaucoma increases your risk of developing the disease yourself by up to tenfold.
These new genes let us get a more accurate risk prediction, so for an individual, their genetic risk instead of being ten times higher than the general population, it could be 50 times higher, or it could be only two times higher.”
Professor MacGregor said the next focus of the research was to use genetic markers to point to potential treatments that could reverse or prevent it. QIMR runs a genetic study for people with glaucoma and has an open call out for volunteers to add their genetic samples to the collection. Professor Tan also hopes for potential treatments in the future, not for her but her daughter.
Faith has lived with glaucoma for a decade since she was diagnosed in her late 20s. Fortunately, her condition was caught much earlier than her mother’s, and she has almost no degradation of sight. “I’d urge everyone to come forward and take part in the QIMR study; that’s why I did,” Professor Tan said. “Preventing [glaucoma] would be amazing because I’ve got grandchildren, and if history is anything to go by, they have these markers too.”
The research has been published in Nature Communications, an open-access journal that publishes high-quality research from all areas of the natural sciences. Professor Jamie Craig, clinical lead researcher and chair and academic head of the Department of Ophthalmology at Flinders University, said the study results offer hope for mass screening for glaucoma.
“Early detection is paramount because existing treatments can’t restore vision that has been lost, and late detection of glaucoma is a major risk factor for blindness,” said Craig, who is also a consultant ophthalmologist. “Glaucoma can arise at any age, but most of those affected are in their 50s or older, so our ultimate aim is to be able to offer blood tests to people when they turn 50, so they can find out if they are at risk, and then hopefully act on it.
“In most cases, glaucoma can be treated easily using simple eye drops, but this test will help identify those who would benefit from a more aggressive intervention such as surgery.” The study findings can be accessed on the Nature Genetics website. www.nature.com/ng/ By Stuart Layt – Kindly reprinted with permission from Fairfax Media and The Brisbane Times
QIMR Test spots the risk of eye disease before vision is lost. Researchers have developed a genetic test to catch the debilitating eye disease glaucoma before affecting a person’s vision. Scientists from QIMR Berghofer and Flinders University have identified 107 genes that increase someone’s risk of developing glaucoma. They are now conducting studies to refine the test further. Lead researcher Associate Professor Stuart MacGregor from QIMR said, “the test would significantly improve outcomes for patients, as glaucoma is progressive and incurable, meaning early detection was the key to managing the condition.”