Scientists identify DNA glaucoma link

PUBLISHED : Monday, 01 September, 2014, 11:50pm
UPDATED : Monday, 01 September, 2014, 11:50pm


Scientists say they have identified six genetic variants linked to glaucoma, a discovery that should help earlier diagnosis and better treatment for the often-debilitating eye disease.

Three studies published on Sunday in the journal Nature Genetics by separate groups of researchers found variants on genes that also play a role in regulating cholesterol in cells and in an age-related arterial disease, atherosclerosis.

A variant in one of the genes, called ABO, also seemed to be more common in people with blood group B, the authors reported.

The flaws came to light in a minute search through the genome of tens of thousands of people in more than half a dozen countries, comparing the DNA of those with glaucoma against those who were otherwise healthy.

Glaucoma, which is the leading cause of irreversible eye disease in the world, is caused by damage to the optical nerve, usually by a build-up of fluid pressure in the eyeball. Early diagnosis is vital, as the damage can be averted if treated quickly. Identifying patients who are genetically more at risk would be a plus.

"Although eyedrops already are available to treat glaucoma, these are not always effective," said Chris Hammond, a professor at King's College London.

The World Health Organisation estimates 4.5 million people around the world have become blind through glaucoma, with the disease accounting for one in eight cases of blindness.