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Pilot Programme for Keratoconus Screening and Management in Adolescents with Down Syndrome
Barry Power1, Kirk A J Stephenson1, Diana Malata1
1Royal Victoria Eye and Ear Hospital, D02 XK51 Dublin, Ireland.
Diagnostics (Basel, Switzerland)
|March 28, 2025
Summary
Adolescents with Down syndrome (Trisomy 21) have a higher incidence of keratoconus. Early detection through corneal tomography allows for timely crosslinking treatment to stabilize the condition.
Area of Science:
- Ophthalmology
- Genetics
- Public Health
Background:
- Down syndrome (Trisomy 21) is associated with an increased risk of ocular abnormalities.
- Keratoconus, a progressive corneal ectasia, requires early detection and management.
Purpose of the Study:
- To screen adolescents with Down syndrome for keratoconus.
- To evaluate the feasibility of a national keratoconus screening program for this population.
Main Methods:
- A pilot screening clinic was conducted for 27 adolescents (ages 9-18) with Down syndrome.
- Corneal tomography was used to assess corneal shape, thickness, and identify keratoconus.
- Diagnosis was confirmed by corneal specialists based on clinical and tomographic findings.
Main Results:
- Early keratoconus was detected in 15% of eyes (8/54) in the screened Down syndrome group.
- Corneas in the Down syndrome group were significantly thinner and steeper than controls.
- The mean age of diagnosis was 14.6 years.
Conclusions:
- A significant incidence of keratoconus requiring treatment was found in adolescents with Down syndrome.
- Corneal tomography is effective for early keratoconus diagnosis in this high-risk group.
- Tomographic screening in mid-adolescence is recommended for individuals with Down syndrome.
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