What Every Family Should Know 

If you or your child has Down syndrome, there is something important you should know about their eye health. People with Down syndrome are significantly more likely to develop keratoconus than the general population. Research suggests the rate of keratoconus in individuals with Down syndrome may be 10 to 300 times higher than in the general population.1 Yet despite this well-established connection, many families do not learn about it until vision has already been substantially affected. 

Why the risk is higher 

Down syndrome affects the body in many ways, including the structure of the cornea, which is the clear front surface of the eye. Individuals with Down syndrome tend to have corneas that are naturally thinner and steeper than average, with differences in the collagen that gives the cornea its shape and strength. These characteristics make the cornea more vulnerable to the progressive changes that define keratoconus. 

Eye rubbing, which is common in individuals with Down syndrome due to allergies and other eye irritations, can further accelerate corneal changes. When the cornea is already predisposed to instability, repeated rubbing can significantly worsen progression. 

Why diagnosis often comes late 

For individuals with Down syndrome, keratoconus frequently goes undetected until it has reached an advanced stage. 1,2 There are several reasons for this. Early keratoconus may produce subtle symptoms, such as mild blurring, increased sensitivity to light, or frequent changes in glasses prescription. These symptoms can be difficult to recognize or report, particularly for individuals with Down syndrome. Furthermore, standard eye exams do not always include the specialized corneal imaging needed to detect early keratoconus. 

By the time a diagnosis is made, the cornea may already show significant changes, and in some cases, scarring that limits treatment options. 

What this means for patients and families 

The good news is that when keratoconus is identified early, there are effective interventions, such as corneal cross-linking, that can halt progression and protect vision. The challenge is getting there in time. 

Families and caregivers play a critical role. If your loved one with Down syndrome has not had a comprehensive eye exam that includes corneal imaging, it is worth asking their eye care provider about it. Early and regular screening is the most important tool available for protecting the vision of individuals with Down syndrome who are at elevated risk for keratoconus. 

The American Academy of Pediatrics recommends structured eye screenings for children with Down syndrome beginning in infancy, with ongoing monitoring for keratoconus starting around age five. If your child is not currently being screened for keratoconus, speak with their pediatrician or eye care provider about whether a referral to a keratoconus specialist is appropriate.