Genetic Risk Scores Could Revolutionize Early Glaucoma Detection, Study Shows

Genetic information can identify individuals at significantly higher risk of developing glaucoma, according to a study published in Ophthalmology that analyzed data from 21,000 patients with the disease. Researchers found that those in the top 1% of polygenic risk scores had a nearly half lifetime risk of developing glaucoma, compared to fewer than three out of every 100 for those in the lowest 1%.

How Polygenic Risk Scores Work for Glaucoma

Researchers calculated polygenic risk scores by combining the effects of numerous genetic variants associated with glaucoma. This approach, which outperformed traditional family history assessments, allows for a more precise estimation of individual risk, according to Nina Mars, one of the senior authors of the study from the Institute for Molecular Medicine Finland (FIMM), University of Helsinki.

“A polygenic risk score combines the effects of numerous genetic variants across the genome into a single measure of genetic risk,” Mars said. “Our study demonstrates that genetic information could significantly complement current methods for risk assessment.”

Implications for Early Screening and Treatment

The study, based on the FinnGen dataset of hundreds of thousands of Finnish participants, revealed that high genetic risk scores not only predicted disease onset but also severity. Patients with high genetic risk were more likely to require additional medications, laser treatments and glaucoma surgery than those with a low genetic risk.

“Our findings show that genetic risk information can identify individuals at increased risk of glaucoma decades before the disease develops,” said Joni Turunen, an ophthalmologist and adjunct professor at the University of Helsinki, HUS Eye Clinic and the Folkhälsan Research Center. “In the future, this could enable more targeted screening and earlier diagnosis for those who would benefit most.”

Next Steps for Integrating Genetic Risk into Healthcare

The research team emphasized that the next critical step is to investigate in prospective follow-up studies how polygenic risk information can be integrated into routine health care and whether risk-based glaucoma screening is cost-effective. Eemeli Tusa, a medical student and doctoral researcher at the University of Helsinki, noted that prospective studies are needed to assess cost-effectiveness and practical implementation.

“These results provide a strong foundation for incorporating genetic risk information into future screening programs,” Tusa said. The study was conducted in collaboration among researchers from the Institute for Molecular Medicine Finland (FIMM) at the University of Helsinki, the Folkhälsan Research Center and the HUS Eye Clinic.

Why This Matters for Patients and Clinicians

Glaucoma is the leading cause of irreversible visual impairment worldwide. Because the disease often progresses without symptoms for years, many patients are diagnosed only after permanent damage to the optic nerve has already occurred. The new approach could address this gap by enabling proactive monitoring for high-risk individuals.

Healthcare providers may use these scores to prioritize screenings and interventions, potentially preventing vision loss.

FAQ: Key Questions About Genetic Risk Scores and Glaucoma

How accurate are polygenic risk scores compared to family history?
Polygenic risk scores provide a substantially more accurate estimate of an individual’s genetic risk than information on whether close relatives have developed the disease, according to the study.

Can these scores predict disease severity?
Yes. Patients with a high genetic risk were more likely to require additional medications, laser treatments and glaucoma surgery than those with a low genetic risk.

What’s next for this research?
Researchers plan to investigate in prospective follow-up studies how polygenic risk information can be integrated into routine health care and whether risk-based glaucoma screening is cost-effective.

Reference: Eemeli S. Tusa et al, Polygenic risk impacts lifetime risk and prognosis of glaucoma, Ophthalmology (2026). DOI: 10.1016/j.ophtha.2026.06.003