World-first glaucoma gene discovery

The discovery of two new genes could pave the way for new treatments for blinding glaucoma, although there are still unknown factors that influence the overall risk.

A survey of 4,500 patients from across Australia and New Zealand led to the discovery, which will replace routine monitoring and hit-and-miss treatments. Researchers established that 18% of the population carries risk variants of the two genes, making them three times more likely to develop severe glaucoma.

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.

Open angle glaucoma is the most common form of the disease but it is not well understood and difficult to diagnose in its early stages so many cases remain undiagnosed until irreversible loss of vision has taken place.

Read more at Nature Genetics