Key Takeaways

  • Individuals in the highest genetic risk decile had approximately 100 times the odds of glaucoma compared with those in the lowest decile across 3 validation datasets

  • Higher polygenic risk was associated with retinal nerve fiber layer loss, treatment escalation, and increased likelihood of glaucoma surgery

  • Incorporating genetic risk scores into clinical assessments may improve early identification and individualized monitoring of patients at risk for glaucoma

New research published in Ophthalmology suggests that a polygenic risk score (PRS) underlying Seonix Bio’s SightScore genetic test may help identify individuals at increased risk of developing glaucoma and predict disease progression and the likelihood of surgical intervention.1

The study evaluated the PRS using genetic data from more than 6.5 million individuals across independent cohorts representing multiple ancestry groups. Across 3 validation datasets, individuals in the highest 10% of genetic risk had approximately 100 times the odds of glaucoma compared with those in the lowest 10%. In a population-based analysis, the highest-risk group reached a 3% glaucoma prevalence more than 25 years earlier than the lowest-risk group.

The PRS demonstrated predictive value across European, African, East Asian, South Asian, and Latino ancestry groups. Among African American participants in a US cohort, individuals in the highest-risk decile had 3.8 times the odds of glaucoma compared with the remaining participants.

Adding the PRS to models incorporating age, sex, and intraocular pressure improved glaucoma prediction in US cohorts of European, Latino, and African ancestry.

The investigators also examined longitudinal outcomes in a prospective cohort of 1,215 participants with suspected or early-stage glaucoma. By age 80, 24% of individuals in the highest PRS decile had undergone glaucoma surgery, compared with none in the lowest decile. Higher genetic risk was also associated with retinal nerve fiber layer loss and an increased likelihood of treatment initiation or escalation within 3 years.

“Glaucoma care has traditionally relied on clinical measurements that may not fully capture a patient’s inherited risk or predict future disease course,” said Nick Haan, CEO of Seonix Bio. “This research shows the potential of genetic information to add a meaningful dimension to risk assessment, not only helping identify who may develop glaucoma, but also providing insight into who may be more likely to progress and require surgery. Our goal is to make this information useful to clinicians as they work to protect patients’ vision.”

Iqbal “Ike” K. Ahmed, MD, FRCSC, professor of ophthalmology at the University of Utah’s John A. Moran Eye Center, noted that the findings connect genetic susceptibility with progression and surgical risk, potentially supporting more individualized glaucoma management.

SightScore uses a saliva sample to assess inherited glaucoma risk. Although the findings suggest potential applications for risk stratification and clinical monitoring, genetic testing is intended to complement established clinical assessments rather than replace them.

Reference

1. MacGregor S, Ni G, Seviiri M, et al. Step change in glaucoma polygenic risk score performance enables clinical utility. Opthalmology. Published online 2026. doi:10.1016/j.ophtha.2026.00788-8.