Millions of people around the world are living with glaucoma, but many do not know they have it. The disease usually develops so quietly that there may be no warning signs for years.
During this time, pressure or other changes inside the eye slowly damage the optic nerve. Because the optic nerve cannot repair itself, any vision that is lost is usually gone forever. For this reason, eye specialists often describe glaucoma as the silent thief of sight.
The best way to protect vision is to find glaucoma before symptoms begin. Unfortunately, this is not always easy. Regular eye examinations help, but it is difficult to know who should be screened more often.
Doctors have traditionally relied on age, eye pressure, and family history to identify people who may need closer monitoring. While these methods are useful, they do not always identify everyone at high risk.
Researchers from the University of Helsinki and their collaborators believe that genetics may offer a better solution. Their new study, published in Ophthalmology, analyzed information from the FinnGen project, a major health research program containing genetic and medical information from hundreds of thousands of Finnish volunteers.
More than 21,000 participants had glaucoma, giving researchers an unusually large amount of data to study.
The team developed a polygenic risk score, which combines the effects of many small genetic differences across a person’s DNA. Rather than relying on one gene, the score reflects the combined influence of hundreds or even thousands of genetic markers linked to glaucoma.
The results showed that people with the highest genetic scores faced a dramatically greater chance of developing glaucoma during their lives. Almost one in every two people in the highest one percent eventually developed the disease. In contrast, fewer than three percent of those in the lowest one percent developed glaucoma.
The researchers also discovered that the score predicted how difficult the disease would be to treat. Patients with a high genetic risk were more likely to require several medications, laser procedures, or surgery after diagnosis than those with lower scores.
According to Dr. Joni Turunen, this means doctors may eventually be able to identify high-risk individuals decades before any damage occurs. Earlier monitoring could allow treatment to begin before vision is permanently affected.
The study further showed that genetic risk scores outperformed family history. Many people who develop glaucoma have no close relatives with the disease, while others with a strong family history never develop it. A genetic score provides a more detailed estimate because it measures the combined effects of many inherited genetic changes.
The researchers now hope to test whether using genetic information in routine healthcare is practical and cost-effective. If future studies confirm these findings, healthcare systems could offer personalized screening programs based on each person’s level of inherited risk.
This research has several strengths. It involved one of the world’s largest glaucoma datasets and examined both disease risk and disease severity.
However, because most participants were Finnish, scientists still need to confirm that the same approach works equally well in other populations around the world. Genetic testing should also be viewed as an additional tool rather than a replacement for regular eye care. Healthy habits and routine eye examinations will remain important.
Overall, the findings represent an exciting step toward personalized medicine and may one day help doctors prevent blindness by finding glaucoma much earlier than is possible today.
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Source: University of Helsinki.
