Researchers at QIMR Berghofer Medical Research Institute and Flinders University, Australia have identified 107 genes associated with increased risk of developing glaucoma. Published in Nature Genetics, the researchers also developed a genetic test to screen those who are at risk of developing the condition, in the hopes of intervening before symptoms of the disease, such as vision loss, occur.

Glaucoma is a condition where the eye’s optic nerve is damaged due to increased pressure in the eye that can result in vision loss. 76 million people are predicted to be affected by 2020, making it the leading cause of irreversible blindness worldwide. Glaucoma can affect people of all ages but is most common in adults in their 70s and 80s. With no cure, current treatments are used to slow or stop the disease progression, and up to 50% of people with the disease are believed to not know they have it, making it more important than ever to develop a screening test to detect the risk early on.

Glaucoma has a genetic component and several genes have been identified in association with the disease. Although, not every case is caused by a genetic mutation.

Optic nerve photographs of 67,040 UK Biobank participants were analysed, and a multi-trait genetic model to identify risk loci for glaucoma was used to develop a glaucoma polygenic risk score (PRS) to predict who is likely to get the disease.

A genetic test would be extremely useful to identify those at high risk of developing the disease to prevent any vision loss. It will also help identify which treatment will be best for different patients: simple eye drops or surgery. This would have benefits for patients, doctors and the health cares system with reduced interventions and reduced costs.

The researchers hope that mass screening for glaucoma could be offered in the future, and to help identify more genes that could possibly play a role in the condition, the researchers hope to recruit 20,000 people with a personal or family history of the disease to join their Genetics of Glaucoma Study.