Certain Gene Variants Reveal Glaucoma Risk

Researchers have discovered six specific genetic variations that may be linked to glaucoma. Findings published in the journal Nature Genetics discuss how three separate studies reveal telltale variants of genes that also play a role in regulating cholesterol in cells and the age-related arterial disease, atherosclerosis.

"It's rock solid that this is an important result because it has been found in three different ways," said lead study author Jamie Craig, who is also from Flinders University's Centre for Ophthalmology and Eye Vision Research, in a news release. 

"All the papers were done in different populations with different strategies and all identified the same gene," he added. "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."

As glaucoma remains a leading cause of irreversible blindness according to the World Health Organization (WHO), health officials continue to work on new research that uncovers new potential treatments for the future.

For the study, researchers examined a cohort of 1155 patients from Australian and New Zealand Registry of Advanced Glaucoma with severe POAG and 1992 matched controls. Genetic testing identified the gene sequence of the ABCA1 gene, which is involved in the regulation of cellular cholesterol and lipid metabolism. They also discovered variants of the three following genes: ABCA1, AFAP1, and BMDS, which significantly increased glaucoma risk in Australians and Americans of European descent.

Early diagnosis is critical to this health issue as treating damage early on can prevent future related problems that can contribute to blindness. Researchers added that further work on exactly how faulty genes cause glaucoma could lead to new and better treatments for the medical problem.

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