Six gene variations linked to glaucoma risk

Scientists have identified six genetic variants associated with the eye condition glaucoma in people from around the world including Australia.

The discovery, in three major studies, could help identify people at higher risk of the disease and lead to earlier screening and treatments.

All three studies, published today in Nature Genetics, identify gene sequence variations of the ABCA1 gene, which is involved in the regulation of cellular cholesterol and lipid metabolism, as playing a role in the eye disease.

Professor Jamie Craig, of the South Australian Health and Medical Research Institute and joint leader of the Australian project, says the finding is significant.

“It’s rock solid that this is an important result because it has been found in three different ways,” says Craig, who is also from Flinders University’s Centre for Ophthalmology and Eye Vision Research.

“All the papers were done in different populations with different strategies and all identified the same gene. It has been shown to be involved in eye pressure in normal people and tells us for sure it is contributing to glaucoma at least partly through intraocular pressure pathways.”

Glaucoma is the leading cause of irreversible blindness in the world.

It is caused by damage to the optic nerve, usually, but not always due to the eye pressure inside the eye (intraocular pressure) being too high, as the eye fluid does not drain properly.

People with a close relative with the disease are about 10 times more likely to contract the condition.

Early diagnosis of glaucoma is crucial because, if treated early enough, damage to vision can be prevented, says Craig…

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by Dani Cooper | ABC Science