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April 18, 2025
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BLOG: Consider cross-linking in patients with Down syndrome, neurocognitive disorders

Key takeaways:

  • Keratoconus diagnosis may be challenging in these patients.
  • Cross-linking can stabilize the cornea and preserve vision, maintaining a patient’s quality of life.

People with trisomy 21, or Down syndrome, have a significantly elevated risk for keratoconus, with many reports citing a 30% prevalence of keratoconus in this population.

Although the relationship is not fully understood, it is likely due to genetic predisposition, connective tissue abnormalities resulting in altered corneal morphology (eg, steeper and thinner corneas) and increased eye rubbing behaviors. Patients with developmental delays who have keratoconus are often diagnosed at older ages, experience longer delays between diagnosis and surgery, and have worse disease at baseline. In our area, I find that children with Down syndrome are pretty consistently referred to pediatric optometrists and ophthalmologists. However, the frequency of eye exams drops off after childhood; consequently, these patients may “fall through the cracks” and present with more advanced keratoconus in their 20s or later.

Maanasa Indaram, MD

Screening and detection remain challenging not only in Down syndrome but in patients who are nonverbal or struggle with severe autism, ADHD or other neurocognitive disorders. Patients with these conditions may be unable to recognize or express that something is wrong. By the time their caregiver notices a behavior change, patients may have already experienced a significant loss of vision. In some cases, parents or caregivers have to coordinate medical and therapy appointments with many different types of providers, and eye care may simply not be the top priority. We know that keratoconus can progress quickly, so even a year or two of missed eye exams can mean that a previously undetected condition has already manifested and progressed significantly (Figure 1).

Eye exams in patients with Down syndrome or neurocognitive disorders can be quite difficult. The patient may be uncooperative. The exam takes much longer and may require tools that aren’t standard in most optometry or ophthalmology offices. For many practices, it may be more practical to refer these patients out to a university or other tertiary care center where there are specialized optometrists and ophthalmologists who are comfortable in the evaluation and management of these complex patients and who have the ability to spend sometimes more than an hour to conduct a holistic exam.

Figure 1. Oculus Pentacam imaging from a patient with Down syndrome and keratoconus. 
Figure 1. Oculus Pentacam imaging from a patient with Down syndrome and keratoconus.

Source: Maanasa Indaram, MD

It is important to encourage families to seek treatment in the form of FDA-approved iLink corneal cross-linking (Glaukos) for their family member with progressive keratoconus. I see in so many of my patients’ families how challenging it can be to care for a child (or adult child) with a disability. It can be overwhelming. But what I emphasize to families is that treatment is absolutely worthwhile because keratoconus can have such a negative impact if it is allowed to progress. Poor vision will make mobility, behavior, independence and other issues even more difficult. Patients with Down syndrome and other neurocognitive issues may not be able to manage specialty contact lenses for vision correction, and they are poor candidates for corneal transplantation if their keratoconus were to progress to more severe stages because it requires long-term instillation of eye drops with a high risk for graft failure. For all these reasons, I tell families that intervening as early as possible with cross-linking is essential. By stabilizing the cornea and preserving vision, they will help to maintain their loved one’s best possible quality of life for the future.

Yes, cross-linking involves some challenges in the immediate perioperative period, and it will likely require general anesthesia in this population. Nonetheless, iLink cross-linking is a well-tested procedure that has proven to be effective over the long term in preventing vision loss or progression to late-stage corneal scarring or hydrops.

For more information:

Maanasa Indaram, MD, an associate professor of ophthalmology and medical director for pediatric ophthalmology and adult strabismus at the University of California San Francisco, can be reached at maanasa.indaram@ucsf.edu.

Sources/Disclosures

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Source:

Expert Submission

Disclosures: Indaram reports speaking and consulting for Glaukos.