Remote tonometry, genetic risk scoring will play a role in glaucoma management
Key takeaways:
- Remote tonometry allows patients to perform diurnal IOP curves.
- Genetic risk scoring may help determine who is at risk for glaucoma progression.
Emerging technologies, including remote tonometry and genetic risk scoring, hold promise for more efficient glaucoma care, according to a speaker at the American Glaucoma Society meeting.
“I offer remote tonometry to patients with normal-tension glaucoma and evidence of progression despite episcleral venous pressure readings in the office,” Louis R. Pasquale, MD, FARVO, of Icahn School of Medicine at Mount Sinai, told Healio.
In his presentation, he noted that “technology has allowed downsizing of tonometers,” enabling patients to perform their own diurnal curves.
Pasquale presented a case in which, despite successfully lowering a patient's IOP, OCT continued to show disease worsening on a structural level. At-home tonometry later revealed that the patient’s IOP levels were twice as high during early morning hours compared with those detected in the office, which led to a modified treatment plan.
“This is the patient doing all the work,” Pasquale said. “That is what we want to do: Empower patients.”
Patients with normal-tension glaucoma “can have pre-dawn IOPs that are much higher than expected merely due to laying supine (usually 3 mm Hg higher),” he told Healio. “We also know that patients with stronger genetic predispositions to ocular hypertension have early morning IOPs that are 4 mm Hg higher than those with low genetic predisposition to elevated IOP.”
In another case, Pasquale explained how the genetic risk score for glaucoma helped inform the management of a patient with an IOP of 17 mm Hg in the right eye and 15 mm Hg in the left eye who was experiencing paracentral visual field loss in the left eye. The patient was in the top decile of genetic risk for glaucoma despite showing “relatively unremarkable” exam results.
Pasquale previewed data from 374 patients in the Mass General Brigham Biobank demonstrating that 21.2% of people in the highest risk decile for glaucoma developed the disease vs. 3.1% in the lowest decile.
Because of the high genetic risk score, Pasquale and colleagues continued to see the patient, who returned with an IOP of 17 mm Hg in the right eye and 16 mm Hg in the left eye as well as a disc hemorrhage in the left eye.
“If we hadn’t known her genetic risk score, we might have triaged her to a more lenient follow-up, and she might have gotten more progressive damage,” he said in the presentation.
In a separate study published in Investigative Ophthalmology & Visual Science, Pasquale and colleagues explored the impact of age on the link between multi-trait glaucoma polygenic risk scores and glaucoma in 192,283 participants in the UK Biobank. The risk score test used 2,673 genetic variants, and the study assessed IOP, macular retinal nerve fiber layer thickness, macular ganglion cell inner plexiform layer thickness and prevalent glaucoma status across four age quartiles (Q1, younger than 51 years; Q2, 51 to 57 years; Q3, 58 to 62 years; and Q4, 63 years and older).
According to the study, mean IOP differences across the four age quartiles were 0.95 mm Hg, 1.02 mm Hg, 1.18 mm Hg and 1.24 mm Hg, respectively, showing that age significantly modified the relationship between polygenic risk score and IOP. Comparatively, the odds ratios per standard deviation for glaucoma risk score across the four age quartiles were 2.38, 2.57, 2.8 and 2.75, respectively.
Pasquale told Healio that genetic risk scoring will help ophthalmologists diagnose glaucoma earlier if used correctly.
“It will help triage glaucoma suspects, both those whom we can defer close follow-up because of low genetic scores and those who require close follow-up because of high genetic risk scores,” he said.
References:
- Kim J, et al. Invest Ophthalmol Vis Sci. 2025;doi:10.1167/iovs.66.2.57.
- Qassim A, et al. Ophthalmology. 2020;doi:10.1016/j.ophtha.2019.12.025.
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Pasquale LR. Emerging technologies for resource-efficient glaucoma care (i.e., genetics, telemedicine). Presented at: American Glaucoma Society meeting; Feb. 26-March 2, 2025; Washington (hybrid).
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