Gene discovery offers new line of defence against glaucoma

A NEW gene discovery is expected to help save the sight of tens of thousands of Australians with a common type of glaucoma.

Flinders University helped guide international research across six continents and 17 countries to find the new gene that can give you glaucoma.

The gene makes people more susceptible to exfoliation syndrome, a common cause of glaucoma and blindness. It does not cause glaucoma, but increases the risk of developing the disease.

Flinders University ophthalmology Professor Jamie Craig said exfoliation syndrome was responsible for blindness in 7 per cent of Australian glaucoma sufferers with severe vision loss.

“In this form of glaucoma there are deposits of abnormal protein in the front of the eye. That comes on with age and causes a blockage with drainage that puts up your eye pressure,” he said.

“We’re trying to move towards a more sophisticated understanding where we think about what’s gone wrong and develop new kinds of treatments that might stop this abnormal protein depositing in the eye and that might prevent the problem.”

In all Australians over age of 50, at least 3 to 5 per cent have this particular deposition of protein, Professor Craig said. “But that’s not to say they all will get glaucoma,” he said.

He said the problem was more common in other parts of the world, affecting half the glaucoma sufferers in Scandinavian countries.

About 550 cases considered in the study came from the Australian and New Zealand Registry of Advanced Glaucoma, based in Adelaide.

The National Health and Medical Research Council funded the initial research project, but the team soon realised they needed to join forces with collaborators around the world.

The genome-wide association study is published today in the journal Nature Genetics.

The gene discovery gives researchers fresh insight into the mechanism of disease.

“It says that in some way the regulation of calcium levels in the eye has something to do with the build-up of protein,” Professor Craig said.

“In the future, different drugs could be developed to balance out the effects of this problem.

It might prevent the build-up of material. These are the sorts of things that we look for in these studies, to find a new direction for treatment.”

Professor Craig encouraged everyone over the age of 40 to have a check-up for glaucoma every two years.


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