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For people with Down syndrome, family members, caregivers and professionals.

Keratoconus in People with Down Syndrome

October 2021 | Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

We received a question about treatment of keratoconus in people with Down syndrome. 

What is keratoconus?

Keratoconus is an eye condition in which the cornea (the clear part in the front of the eye) becomes thinner and more curved. This causes the cornea to become cone-like in shape and to stick out from the rest of the eye. Keratoconus can cause vision problems such as blurred or distorted vision, increased light sensitivity, and/or frequent changes in eye glass prescription. Additional information about keratoconus can be found on the website of the National Keratoconus Foundation at this link.

The cause of keratoconus is not clear but chronic eye-rubbing seems to worsen it. Management and treatment may include: 

  • Contact lenses
    • Soft contact lenses are usually not sufficient to treat keratoconus. Hard lenses or specialty lenses that combine features of hard and soft lenses are more effective options. 
  • A newer procedure called corneal cross-linking
    • This is a nonsurgical procedure that strengthens the thinning cornea. 
  • Corneal transplant
    • This is a surgical procedure in which the cornea is removed and replaced with a donated cornea. Corneal transplant is usually necessary for the most severe cases of corneal thinning. 

Additional information about treatment of keratoconus can be found on the Mayo Clinic's website at this link.

How many people with Down syndrome have keratoconus?

Keratoconus is more common in people with Down syndrome compared to those without Down syndrome. According to the National Keratoconus Foundation, it is estimated that between 5 and 30% of people with Down syndrome have keratoconus.

How do people with Down syndrome respond to treatment?

The literature on keratoconus treatment for adults with Down syndrome is limited. While we do not offer ophthalmology services at the Adult Down Syndrome Center, we have provided medical care for individuals with Down syndrome who have been treated successfully for keratoconus. However, the numbers are small. We estimate that: 

  • We have had only a few individuals who could tolerate and successfully use contact lenses.
  • We have had several individuals over the years who have had successful corneal transplants. 
  • We have had a few individuals who have successfully undergone the newer cross-linking procedure.

Now that cross-linking is available, it seems that more ophthalmologists are considering cross-linking before corneal transplant when treatment is indicated. However, there are certain eligibility criteria for the cross-linking procedure. We recommend consulting with your ophthalmologist. 

Some individuals with Down syndrome are not able to manage the procedures and recovery for cross-linking or corneal transplant. However, our experience has shown that some people are able to manage successfully. Down syndrome in itself is not a contraindication to these procedures. Again, we recommend consulting with your ophthalmologist. 

Additional Resources

Game-Changing Eye Surgery Restores Confidence in Special Olympian (American Academy of Ophthalmology) - https://www.aao.org/eye-health/patient-stories-detail/james-keratoconus

Keratoconus Journey: Sarah (Living with Keratoconus) - https://www.livingwithkeratoconus.com/kc-journeys/keratoconus-journey-sarah/

Performing Cross-Linking Under Local Anesthesia in Patients with Down Syndrome (International Ophthalmology) - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988782/

Prevalence of Keratoconus in Persons with Down Syndrome in a National Registry in Norway (JAMA Network) - https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2777031

Please note: The information on this site is for educational purposes only and is not intended to serve as a substitute for a medical, psychiatric, mental health, or behavioral evaluation, diagnosis, or treatment plan by a qualified professional. We recommend you review the educational material with your health providers regarding the specifics of your health care needs.

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