Millions of Americans suffer from glaucoma. In fact, glaucoma is one of the leading causes of blindness. Glaucoma is caused by damage to the optical nerve that gradually results in blind spots in someone’s vision. Typically, optical nerve damage is caused by increased pressure in the eye. However, doctors aren’t sure what causes the increased eye pressure to occur.

Researchers in Singapore have recently identified a gene mutation that is linked to exfoliation syndrome, which is a common cause of glaucoma.

How Is Glaucoma Linked to a Genetic Mutation?

Scientists sequenced the protein-encoding genes of 20,000 participants from 14 different countries in Africa, Europe, and Asia. 1,200 of those participants were from Singapore like the researchers. The researchers found that of the protein-encoding genes that they sequenced, the CYP39A1 protein, which was linked to exfoliation syndrome (and therefore glaucoma) when mutated. Participants in the study who had exfoliation syndrome were two times as likely to have a mutated version of the CYP39A1 protein than those who did not. Therefore, a mutation in the CYP39A1 protein is linked to an increased risk of developing exfoliation syndrome.

Who Conducted the Study?

The study was conducted by researchers at the Genome Institute of Singapore (GIS) and Bioprocessing Technology Institute (BTI) at the Agency for Science, Technology and Research’s (A*STAR). They also worked with the Singapore Eye Research Institute (SERI). Their study was published in February of 2021 in JAMA, the Journal of the American Medical Association.

What Is Exfoliation Syndrome?

Exfoliation syndrome is a condition that causes both secondary open- and closed-angle glaucoma. In someone with exfoliation syndrome, fiber-like substances that exist outside of the cells are deposited on some ocular structures as well as throughout the rest of the body. While exfoliation syndrome (XFS) doesn’t necessarily cause glaucoma, it’s more common for someone to develop glaucoma if they already have XFS than if they don’t have XFS.

What Causes Exfoliation Syndrome?

The exact cause of exfoliation syndrome is unknown. Doctors don’t know what causes the fiber-like material to form or what causes it to develop in the eyes or anywhere else in the body. While exfoliation syndrome is known to cause glaucoma, the mystery surrounding the cause of exfoliation syndrome means that the ultimate cause of glaucoma is still unknown.

Why Are the Study’s Findings so Important?

The researchers hope that their findings will help to pave the way not only for future research into exfoliation syndrome and glaucoma but also into possible cures for ocular diseases.

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