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NewsA polygenic risk score for keratoconus was validated in a diverse U.S. cohort, outperforming a previous European-ancestry-based model. The test can identify genetic susceptibility to the corneal disease but can't distinguish disease severity. Researchers say it could guide earlier interventions like collagen cross-linking and help patients avoid triggers like eye rubbing or LASIK.
Researchers have validated a polygenic risk score (PGS) for keratoconus — a progressive corneal disorder — in a multiethnic U.S. cohort, a meaningful step forward in a field where most genetic tools have been built primarily on European-ancestry data. The study, presented at Academy 2026, analyzed DNA from 90 participants at University Hospitals Eye Institute in Cleveland, including patients with keratoconus, healthy controls, and those whose condition returned after a corneal transplant.
The refined score actually outperformed the benchmark set by the landmark Hardcastle study, which surprised even the researchers — especially given their cohort's ethnic diversity. While the score can reliably distinguish people with keratoconus from those without, it cannot yet differentiate stable from recurrent disease.
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Why it matters: This tool won't replace clinical diagnosis, but it could flag at-risk patients earlier — prompting closer monitoring, lifestyle guidance (like avoiding eye rubbing), and timely interventions like collagen cross-linking to slow disease progression.
