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Yale School of Medicine researchers have discovered new genetic risk factors associated with a subtype of the eye condition glaucoma. The findings highlight a novel mechanism that may contribute to the onset of the disease.

Doctors sometimes refer to glaucoma as the "silent killer of sight" because patients often don't show symptoms until irreversible damage to the optic nerve has already taken place. Pigmentary glaucoma—in which tiny pigment granules break free from the iris (the colored part of the eye) and block the eye's drainage system—is a subtype that primarily affects younger adults. Previous research has shown that mutations in genes that control pigment production are associated with this form of glaucoma.

Now, in a new study published in Ophthalmology Glaucoma, researchers have uncovered further genetic differences linked to pigmentary glaucoma. These include variations near a gene called EPHA7, which helps control how cells move and attach to neighboring cells.

The findings suggest changes in the way cells detach and spread from the iris may contribute to the disease. Understanding these mechanisms could help researchers design new diagnostic tools and more effective treatments, the team says.

, assistant professor of ophthalmology and visual science at Yale School of Medicine and the study's principal investigator.

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