Screening for glaucoma and estimating risk could get much more precise with advances underway in genomics and AI. These advances are helping experts understand the many complexities of glaucoma, including hundreds of genetic changes linked to the condition and why some people progress to vision loss while others live with stable disease for life.

“Genomics can help to identify people who are more likely to develop glaucoma potentially long before any symptoms of the disease appear. Instead of screening everyone the same way, testing and monitoring could then be focused on those at highest risk,” Kelsey Stuart, MBBCh, MSc, PhD, a researcher at University College London Institute of Ophthalmology told Medscape Medical News. Identifying candidates for closer monitoring also could make care more efficient and cost-effective, he added.

“We’re at the precipice now where there’s a lot of potential for genomic information to support risk stratification,” Swarup S. Swaminathan, MD, an ophthalmologist specializing in glaucoma, cataracts, and refractive diseases at the Bascom Palmer Eye Institute and associate professor of clinical ophthalmology at the University of Miami Miller School of Medicine, Miami, said.

Genetics and genomics could help predict which patients are likely to have stable disease, which ones are likely to progress slowly, and the most concerning group: those at high risk of developing visual impairment. These patients often have a strong family history of glaucoma and can experience rapid degeneration of vision “even when you’re trying your best to control their eye pressures to stabilize them,” Swaminathan said.

Know the Score

With more than 300 common genetic variants identified in primary open-angle glaucoma (POAG) in adults, researchers are creating a polygenic risk score (PRS) to help guide clinical decision-making. “If you look at all the variation in my genome and compare it to what’s known, then you can build a risk score. That risk score will tell you if I have a high or low risk of developing glaucoma,” Nazlee Zebardast, MD, MSc, director of Glaucoma Imaging at Mass Eye and Ear in Boston said.

Working toward a PRS “is one of the major advances” in recent glaucoma research, she said.

In February 2025, the FDA approved the SightScore test, from Seonix Bio, which generates a PRS for people with POAG. Initially available in Australia and New Zealand, the test analyses saliva for millions of locations in the genome associated with the condition. Meanwhile, more than 160 genetic tests for glaucoma are available for clinicians to order, according to the US National Institutes of Health.

Limitations exist, however. Genetic risk is not diagnostic, it cannot definitively predict the progression of glaucoma, and testing is expensive. For single gene sequencing or a specific panel, the price might range from $200 to $500, Zebardast said. “This really depends on what you are testing for.” Prices are higher for multigene panels and whole exome or whole genome sequencing, she added, and the cost varies depending on platform, hospital, and insurance coverage.

However, genomics can help identify those people predisposed to developing the condition. “Even though some high-risk individuals may never develop glaucoma, and some lower-risk individuals might, genetic information still improves risk prediction when added to age, intraocular pressure, and other clinical findings,” Stuart said.

“I think of genetics as an adjunctive clinical tool. The message really is genetics has to be taken in conjunction with someone’s environmental and clinical risk profile,” Zebardast agreed.

“We’re really excited about the potential of genomics in glaucoma, and I definitely think there is a place for it,” Swaminathan said.

A Growing Need

Glaucoma is the leading cause of irreversible vision loss, affecting an estimated 3 million people in the US. The CDC estimates this number will grow to 6.3 million Americans by 2050.

Add to this a predicted 12% decrease in the workforce of eye professionals by 2035, and identifying patients at highest risk becomes even more essential to efficient use of healthcare resources. “That’s why genomics has the potential to serve as a powerful tool for us in the future,” Swaminathan said.

Screening is also critical because only about 50% of Americans with glaucoma are aware they have the condition because symptoms often do not appear in the early stages of the disease.

Testing Limitations

Genomics is advancing faster than many clinicians realize, and patients may soon arrive with their own genetic risk information from direct-to-consumer testing, Stuart said. “Physicians don’t need to become geneticists, but they should be prepared to interpret genetic risk scores in context and explain that these results estimate risk — not certainty,” he said.

Recognizing the current limitations of testing is also important, Stuart added. These include reduced accuracy in non-European populations and the need for further validation before routine use in clinical settings. 

“Most importantly, genomics should be seen as a tool to enhance, not replace, clinical judgment, helping move glaucoma care toward earlier detection, focused resource use, and more personalized management,” he said.

Although many genetic variants associated with glaucoma have been identified, work remains to be done to determine the function of individual genes. Some cause early onset glaucoma, some are associated with increased intraocular pressure, and for others their mechanism of action remains a mystery.

“There are variations in the genome that signal differences among people, but they’re not specifically related to a particular gene that we know of,” Zebardast said.

Further studies are needed to understand how the variants affect gene function and what role they could play in the different phenotypes of glaucoma.

Technology to the Rescue?

One goal is to use machine learning and big data repositories to understand different patterns of disease, Zebardast said. This use of technology could identify subtle patterns with greater precision and speed than human researchers.

“People don’t all develop nerve damage the same way. Some people might develop nerve damage in one particular location but not another one, and we think a lot of that is genetically driven,” she added.

Large language models and AI can support clinical decision-making as well, Zebardast said. “There are patterns in OCT [optical coherence tomography], the field of vision test, and other tests that signify this person is more likely to get worse. We can identify these groups by using artificial intelligence.”

“The ultimate goal of my lab is to use the signals we derive from AI that signify worsening combined with the genetics, and that way we can identify potentially who is at highest risk of getting worse,” Zebardast said.

AI could also assist physicians in recommending the cadence of care for a particular patient, Swaminathan said.

Researchers are already evaluating AI for identifying people with glaucoma detected through optic nerve or retinal images, for measuring thickness of tissues around the optic nerve, and for expanding screening to historically underserved populations, like Black and Latin-American communities. Even with all this potential, Swaminathan said, “AI is not going to be the be-all, end-all, but will definitely serve as a useful adjunctive tool if deployed in a judicious manner.”

A More Targeted Future?

“The important message for physicians is that genomics is rapidly moving from research into practical relevance for glaucoma care,” Stuart said. Genetic information “may also help predict those most likely to benefit from certain treatments and those who may not need treatment at all.”

“In the future, this personalized approach could reduce unnecessary interventions,” Stuart added.

“We have classically practiced a sort of one-size-fits-all approach or treated people into these large groupings based on demographics,” Zebardast said. “But more and more of our understanding is that there are genetic and phenotypic features that alter how someone’s disease progresses and how they respond to therapy. That will ultimately change how we practice medicine and how we choose treatments for our patients.”

Stuart and Swaminathan reported having no relevant financial relationships. Zebardast reported being a consultant for Sanofi and Character Biosciences.

Damian McNamara is a freelance contributor to Medscape Medical News. He worked full-time for Medscape and WebMD from 2018 to 2024. Damian has a BA in chemistry and an MA in science, health and environmental reporting/journalism.