Genetic discovery could help prevent irreversible blindness in people with glaucoma

 

Originally published by QIMR Berghofer Medical Research Institute, on July 3, 2023


Credit: CC0 Public Domain

International research led by QIMR Berghofer has found hundreds of new genes linked to a person's risk of developing glaucoma, including key 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 Nature Genetics.

The research significantly advances our understanding of the genetics of glaucoma, building on a previous 2021 study to identify 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 more than 75 million people around the world, 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% of all glaucoma cases aren't diagnosed until permanent optic nerve damage has already occurred, so early diagnosis and treatment is vital.

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