People with Down syndrome face a higher risk of keratoconus — and it often progresses faster. A UCSF ophthalmologist shares how early diagnosis and corneal cross-linking helped a young patient with trisomy 21 maintain her vision and independence. The case highlights the need for proactive screening and tailored treatment approaches in patients with neurocognitive disabilities.
People with Down syndrome (trisomy 21) are at significantly higher risk for keratoconus, a condition where the cornea thins and bulges outward, causing progressive vision loss. The disease can also present atypically in this population — making it harder to diagnose — and tends to progress more rapidly, requiring aggressive early intervention.
Dr. Maanasa Indaram of UCSF shares the case of a now-28-year-old patient with Down syndrome whose keratoconus was caught early and treated with bilateral corneal cross-linking. Five years later, her corneas are stable, she functions well with standard glasses, and she's living an independent, fulfilling life — outcomes that might not have been possible without timely care.
Key Takeaways:
Why it matters: Many patients with Down syndrome miss timely diagnosis due to low awareness of the keratoconus connection. Proactive screening and referral to eye care specialists could prevent significant vision loss in a vulnerable population.
