For the around 300,000 people in Australia who have glaucoma, about half dont even know they have it, Professor MacGregor said.
By the time they go and get their eyes checked, theyve got irreversible damage, because all the treatments we have are to prevent the condition getting worse, they cant resurrect the nerve cells that have died.
Glaucoma is the catch-all term for a group of related diseases of the eye that damage the optic nerve, usually because of high pressure inside the eyeball.
It causes a gradual loss of vision, usually starting with peripheral vision, often so gradually the sufferers arent aware there is a problem until they have lost a significant portion of their sight.
It is the leading cause of irreversible blindness worldwide and is predicted to affect 76 million people by the end of this year.
Paul Neumann was 49 when he was diagnosed with glaucoma about 20 years ago, except no one bothered to tell him.
I went in for a new pair of glasses and the optometrist sent me to an ophthalmologistwho gave me some drops to take, Mr Neumann said.
That was 20 years ago.
Paul Neumann is one of the first wave of what researchers hope will be a 20,000-strong cohort to investigate glaucoma risk.
More recently I asked the opthamologist, 'Do I actually have glaucoma?' and she said, 'Yes, you do'."
Mr Neumann is now taking part in the second phase of the research.
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Professor MacGregor said they wanted 20,000 people either with glaucoma or with a family history of glaucoma to take part, to help them make their test more accurate.
Theres a group of people especially who have a sort of intermediate level of risk, so we can offer them generic testing, but its not accurate enough yet to know exactly what their risk is, it might be lower or higher, he said.
If its higher, then those people need to be going to screening more regularly.
Anyone wishing to take part in the study can find a link at this website or email glaucoma_genetics@qimrberghofer.edu.au.
The research was published on Tuesday in the journal Nature Genetics.
Stuart Layt covers health, science and technology for the Brisbane Times. He was formerly the Queensland political reporter for AAP.
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