Australians Make World-First Glaucoma Gene Discovery

Australians Make World-First Glaucoma Gene Discovery

An Australian research team has discovered two new genes linked to open angle glaucoma in the only study of severe glaucoma cases in the world, published online in May in the prestigious international science journal, Nature Genetics.

The study established 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. Other factors also influence the overall risk for an individual.

Researchers from Flinders University collaborated with groups from five other Australian universities on the ground-breaking survey of 4500 patients from every state in Australia and New Zealand. Associate Professor Jamie Craig, from the Department of Ophthalmology at Flinders University, headed the team.

'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," Dr Craig said.

'The Australian discovery will help replace routine monitoring and hit-and-miss treatment for glaucoma, by identifying patients at the highest risk of going blind. It opens the pathway to developing completely new ways of treating patients that could delay disease progression and prevent blindness," he added.

Dr Craig sourced study participants primarily from the Australian and New Zealand Registry of Advanced Glaucoma, a research project he leads that is funded by The Eye Foundation. The Registry was established to find ways – through surveillance and DNA research – to identify people at high risk of developing glaucoma blindness.

'This study is the culmination of five years' work, which started with the foundation of the Registry. Before anyone else in the world, our South Australian team achieved these outstanding results," Dr Craig said.

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

Jacinta Spurrett, The Eye Foundation CEO, said: 'We invested in this project because we believed in its potential. Finding new genes with a link to glaucoma is a fantastic outcome for anyone at risk of developing the disease."

The Eye Foundation is a not-for-profit eye health organisation founded in 2002 by the Royal Australian and New Zealand College of Ophthalmologists (RANZCO) and the Ophthalmic Research Institute of Australia (ORIA). The Eye Foundation represents more than 1000 ophthalmologists (eye surgeons and specialists) in Australia and New Zealand who provide services to more than 200,000 patients each year. Rather than focusing on a single eye disease or cause of blindness, The Foundation has chosen to seed fund ground-breaking research into many of the major causes of blindness and also to fund sustainable eye-care programs in disadvantaged communities both in Australia and internationally. The Eye Foundation thanks Pfizer for their support of The Australian and New Zealand Registry of Advanced Glaucoma.