Diagnostic Yield and Longitudinal Performance of a Dedicated Keratoconus Screening Program for Children With Down Syndrome

The aim of this study was to evaluate the performance, diagnostic yield, and longitudinal outcomes of a dedicated tomography-based keratoconus (KC) screening program for children with Down syndrome (DS).

A retrospective cohort study was performed involving all children with DS referred to a dedicated KC screening program between March 2019 and April 2026. Demographic characteristics, visual acuity, tomographic indices, KC diagnosis status, and corneal cross-linking outcomes were reviewed.

Forty-five children with DS were screened (mean age 13.5 years, 53.3% female). Fifteen children (33.3%) were classified as having KC or suspected KC at their initial screening visit. Clinically useful corneal tomography was obtained in 40 of 45 children (88.9%), demonstrating the feasibility of outpatient screening in this population. During surveillance, 2 children with initially normal examinations developed suspicious tomographic findings and 3 children with either a normal or suspicious initial examination progressed to confirmed KC, increasing the cumulative screen-positive rate to 18 of 45 children (40.0%). Fourteen eyes of 8 children underwent corneal cross-linking under general anesthesia without intraoperative or postoperative complications, with stable tomographic parameters on follow-up.

Dedicated tomography-based screening was feasible in most children and identified a high burden of KC, while longitudinal surveillance detected additional children requiring intervention after an initially reassuring assessment. These findings support repeated tomography-based surveillance as part of routine ophthalmic care for children with DS.