At the Genetics of Eye Diseases 2025 conference in Saint Petersburg, ELZA Institute CEO Nikki Hafezi, MAS IP ETHZ, delivered a provocative presentation titled “Keratoconus: Is It Really an Orphan Disease?”—a question that calls into doubt one of the longest-standing assumptions in ophthalmology.

Hafezi began by addressing the widespread reliance on a 1986 prevalence estimate that places keratoconus at 1 in 2,000—formally classifying it as rare. Yet as she highlighted, emerging epidemiological data tell a starkly different story. Drawing on data from the K-MAP study, launched by the Light for Sight Foundation, she presented compelling evidence of significantly higher prevalence, particularly in pediatric and adolescent populations.

The K-MAP pilot study in Riyadh, Saudi Arabia, led by Torres-Netto et al., found keratoconus in 4.79% of children aged 6–21 years—nearly 100 times the traditionally cited rate. Nikki Hafezi emphasized that such findings are not anomalies, but rather reflect modern diagnostic capabilities, such as Scheimpflug-based corneal tomography and advanced biomechanical indices, which can detect subclinical disease stages that older methods missed.

In her talk, Hafezi advocated for a reclassification of keratoconus in global health frameworks and called for school-based screening programs, particularly in high-prevalence regions. She argued that early detection enables timely corneal cross-linking (CXL), preserving vision and preventing the need for corneal transplantation.

Furthermore, she highlighted the translational mission of the ELZA Institute: from establishing prevalence via K-MAP, to advancing treatment with personalized cross-linking protocols like ELZA-PACE, the institute is setting new clinical and scientific benchmarks.

Hafezi concluded with a policy-driven message: if keratoconus is not rare, then our diagnostic and treatment strategies must scale accordingly. “Failing to recognize its true prevalence,” she warned, “delays treatment and costs vision.” She also expressed her gratitude to the organizers of the Genetics of Eye Diseases 2025 conference – particularly the team at the Vavilov Institute of General Genetics, Russian Academy of Sciences—for the opportunity to contribute to this important dialogue.