Glaucoma is one of the world’s leading causes of permanent blindness.
It slowly damages the optic nerve, which carries visual information from the eye to the brain. The problem is that glaucoma often develops silently.
Many people notice no symptoms until their eyesight has already been permanently affected. Once vision is lost, it usually cannot be restored. This makes early diagnosis one of the best ways to protect sight.
Doctors currently identify people at higher risk by looking at age, eye pressure, family history, and other health factors. However, these methods cannot always predict who will develop glaucoma.
A new study suggests that a person’s genes may provide a much more accurate way to identify those who need closer monitoring long before symptoms appear.
The research used the FinnGen database, one of the world’s largest collections of genetic and health information. It contains data from hundreds of thousands of Finnish participants, including more than 21,000 people with glaucoma. The findings were published in the journal Ophthalmology.
Instead of studying only one gene, the researchers calculated a polygenic risk score for every participant. This score combines the effects of many genetic changes linked to glaucoma into one overall measure of inherited risk. The higher the score, the greater the chance of developing the disease.
The results were striking. Nearly half of the people whose genetic scores ranked in the highest one percent developed glaucoma during their lifetime.
In contrast, fewer than three percent of people in the lowest one percent developed the disease. This large difference shows that genetic testing may help identify people at especially high risk many years before glaucoma develops.
The researchers also found that the genetic score predicted how severe the disease might become. Patients with higher genetic risk were more likely to need extra medicines, laser treatment, or glaucoma surgery after diagnosis than people with lower scores.
According to ophthalmologist Dr. Joni Turunen from the University of Helsinki, genetic information may allow doctors to identify high-risk individuals decades before symptoms appear. Earlier screening could lead to earlier treatment and help preserve vision.
Traditionally, doctors have relied on family history to estimate inherited risk. However, the study found that polygenic risk scores were much more accurate than simply knowing whether close relatives had glaucoma. Senior researcher Nina Mars explained that combining the effects of many genes provides a clearer picture of inherited risk.
The researchers believe these findings may eventually support personalized screening programs. People with high genetic risk could receive regular eye examinations earlier in life, while those at lower risk might require less frequent screening. This approach could improve healthcare efficiency while preventing more cases of blindness.
The team plans to continue studying how genetic testing can be introduced into routine healthcare and whether targeted screening is cost-effective. They also want to confirm the findings in additional populations outside Finland.
Overall, this is one of the largest studies ever conducted on genetic risk and glaucoma. Its large sample size makes the findings highly reliable. However, because most participants were Finnish, more research is needed in people from other backgrounds.
The study also does not mean genes are the only cause of glaucoma, since age, eye pressure, and other health factors remain important. Even so, the results strongly suggest that genetic testing could become an important tool for detecting glaucoma earlier and reducing preventable vision loss in the future.
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