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World-first: Glaucoma genes found

As part of a team of Australian researchers, scientists at the Queensland Institute of Medical Research (QIMR) have discovered two new genes linked to open angle glaucoma in the only study of severe glaucoma cases in the world, published online in the prestigious international science journal, Nature Genetics.

Dr Stuart MacGregor from QIMR’s Queensland Statistical Genetics Laboratory said, “This discovery will help to identify patients at the highest risk of severe glaucoma. It opens the pathway to developing completely new ways of treating glaucoma patients that could delay disease progression and prevent blindness.”

Open angle glaucoma, sometimes called chronic glaucoma, is the most common type of glaucoma, and tends to progress at a slow rate. Sufferers may not notice that they have lost vision until the disease has progressed significantly.

“We found that 18% of the population carry risk variants at these two genes, making them up to three times more likely to develop severe glaucoma than those that don’t.”

Glaucoma is the leading cause of irreversible blindness worldwide, affecting an estimated 300,000 people in Australia, half of which are currently undiagnosed. It is the collective name for eye diseases causing irreversible loss of peripheral vision, often associated with too much pressure developing inside the eyeball.

“Although open angle glaucoma is the most common form of the disease, it is poorly understood and difficult to diagnose in its early stages. Many cases still remain undiagnosed until irreversible loss of vision has occurred.”

Researchers from QIMR collaborated with groups from five other Australian universities on the ground-breaking study of 4,500 patients from Australia and New Zealand.

Dr MacGregor emphasized the important role of twins in the research. The genetic information provided by the twins was used in the study as a comparison to those affected by glaucoma.

“We would like to thank all the twins who have generously given their time to help medical research in Australia maintain an international standard, and help Australian research lead the way for better health worldwide.”

The twins have volunteered to be part of a Queensland-based register, called QTwin.

The paper “Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1” will be available at

QTwin is a Queensland-based registry of identical and non-identical twins who regularly provide information for medical research.By comparing identical twins to non-identical twins, QIMR researchers can measure the impact of genes versus environment to better understand the causes of disease: the nature versus nurture debate.

If you know any identical and non-identical twins, please encourage them to register at or by calling 1800 257 179.