Genetic discovery could help prevent irreversible blindness in people with glaucoma

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International research led by QIMR Berghofer has found hundreds of new genes linked to a person’s risk of developing glaucoma.

The research includes genetic targets that could, for the first time, pave the way for treatments that prevent the retinal damage that causes blindness.

The findings, from the largest-ever global genetic study of the degenerative eye disease, have been published in the prestigious journal Nature Genetics.

The research has identified another 185 previously unknown genes linked to glaucoma risk, bringing the total number to 312 genes.

Glaucoma is the leading cause of irreversible blindness globally, affecting over 75 million people worldwide, including 300,000 Australians. The disease causes pressure from fluid in the eye to build up, causing damage to the retina and the optic nerve.

Around 50 per cent of all glaucoma cases are not diagnosed until permanent optic nerve damage has occurred.

Lead researcher Professor Stuart MacGregor, QIMR Berghofer’s Statistical Genetics Laboratory, said the discoveries could rapidly accelerate a new approach to treatment.

“Glaucoma robs your sight by stealth. You lose your peripheral vision first, and then one eye often covers for the loss of sight in the other. You don’t realise what’s happening until you’ve already suffered permanent damage and loss of vision,” said Professor MacGregor.

“Existing treatments focus only on lowering eye pressure. The dream has always been to find a way to make the retina itself stronger so it can withstand the build-up of pressure and prevent the damage that causes permanent blindness.

“Our findings are really exciting because for the first time we’ve discovered the set of genes that could be targeted to induce this ‘neuro-protection’ in the retinal cells.

“We’ve also identified existing drugs that could be used on those genetic targets. This could rapidly advance effective treatment to finally prevent retina and optic nerve damage.”

Lead author Associate Professor Puya Gharahkhani from QIMR Berghofer said the findings are also helping to develop a genetic test to predict a person’s risk of developing glaucoma.

“Glaucoma is one of the most strongly genetic of all human diseases. We can use our genetic discoveries to identify those who are at higher risk.

“If we can find people before the disease develops, we can prevent blindness in those people,” said Associate Professor Gharahkhani.

The researchers said they are hoping to collect more data to increase the accuracy of their genetic prediction tool and find even more genes linked to glaucoma risk.

More than 5,000 Australians have already volunteered to take part in the QIMR Berghofer Genetics of Glaucoma study, but the researchers are appealing for more participants.

“We’re urging Australians who have a personal or family history of the disease to sign up to the QIMR Berghofer Genetics of Glaucoma study. We particularly encourage people aged 50 to 65 who don’t have glaucoma currently but who have a close relative (parent, sibling) with the disease to sign up.

“We want to prevent glaucoma from robbing people of the ability to drive and read and recognise their loved ones, but we need your help to do this,” said Professor MacGregor.