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Breakthrough in genome-wide study of eye disease

QIMR scientists leading the world’s biggest study into the genetics of eye disease have made discoveries with major implications for prevention and treatment of hereditary conditions.

The genome-wide study of 20,000 people – including 1000 Queensland twins – has identified new gene variants that cause the debilitating conditions keratoconus and open angle glaucoma.

Associate Professor Stuart MacGregor, from QIMR’s Statistical Genetics Laboratory, said the genes dramatically increased the chances of having keratoconus, an abnormality of the cornea.

“These findings mean specialists can now screen people for the disease,” Associate Professor MacGregor said.

“You can identify the people at highest risk, and ensure their eyesight is being closely monitored.

“What’s really exciting is that when you understand the genetic basis of a disease, the door opens for potential new treatments. You can also target existing drugs better to fix the underlying problem.”

Keratoconus is a progressive abnormality of the cornea. It changes from its normal curve to a more conical shape, distorting vision. It affects about 10,000 Australians, most of them young. It can require corneal transplants.

The study identified 16 new gene variants that influence corneal thickness, six of them greatly increasing the chances of having keratoconus.

One of the new genes identified was also linked to open angle glaucoma, the most common type of glaucoma.

1000 Queensland twins from QIMR’s Q-Twin database were among the 20,000 people studied.

“Once again, twins have proven invaluable to research. We’d like to thank those Queenslanders who volunteered and helped increase our understanding of eye disease,” Associate Professor MacGregor said.

The international study, led by QIMR, was published in Nature Genetics.