New NEI study finds three additional genes related to glaucoma
Glaucoma affects about 60 million people worldwide. It is a blanket name for a large group of eye-related conditions that cause damage to the optic nerves, which connect the eye to the brain.
As the result of an analysis funded by NEI, researchers recently discovered three genes that were identified as being contributors to the most common type of glaucoma, primary open-angle glaucoma, bringing the total number of known glaucoma-causing genes to 15.
Dr. Janey Wiggs, associate director of the Ocular Genomics Institute at the Massachusetts Eye and Ear Infirmary at Harvard Medical School, was the lead author on the report, which was published in the online medical journal Nature Genetics.
“This unprecedented analysis provides the most comprehensive genetic profile of glaucoma to date,” NEI Director Dr. Paul Sieving said. “These findings open avenues for the pursuit of new strategies to screen for, prevent and treat glaucoma.”
Glaucoma can often go undiagnosed for years, causing damage as pressure increases inside the eye. Early detection of the condition is key to saving the patient's sight, as the pressure can be reduced with surgery and medication.
The new analysis used as subjects 3,853 people of European ancestry who had been diagnosed with primary open-angle glaucoma and another group of 33,380 people who did not have the condition.
Specific variations of genes OXC1, TXNRD2 and ATXN2 were often found in the patients with glaucoma. TXNRD2 and ATXN2 reside in the optic nerve.
“This is the first direct report to show the association of a gene linking oxidative damage to glaucoma,” Dr. Neeraj Agarwal, program director at NEI, said.
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