For many families affected by Down syndrome, keratoconus is not diagnosed until permanent damage to the cornea has already occurred. As research continues to show, delayed diagnosis remains one of the greatest barriers to preserving vision in this high-risk population and one of the most important problems NKCF is working to solve. To that end, advocacy includes asking how we can help more people receive a diagnosis before irreversible vision loss occurs. One promising opportunity is something most patients have never heard of: diagnostic coding. 

When a physician believes a patient is at elevated risk for a disease but a confirmed diagnosis has not yet been established medicine often recognizes that important stage with what is called a “suspect” diagnosis code. These codes help identify patients who require closer monitoring, consistent follow-up, and timely evaluation before disease progresses to a more advanced stage.  

Today, keratoconus does not have a dedicated suspect diagnosis code. As a result, individuals with suspicious corneal findings, strong genetic risk factors, or a family history of keratoconus may not be systematically identifiedor followed using standardized documentation. For high-risk populations — including individuals with Down syndrome, whose risk of developing KC is substantially higher than that of the general population — this gap represents a meaningful opportunity for earlier recognition. 

NKCF is working to advance initiatives that support earlier identification of individuals who may be developing keratoconus before the disease reaches an advanced or irreversible stage. We believe that improving the systems used to recognize patients at elevated risk can encourage greater provider awareness, more consistent documentation, better surveillance, and earlier referral for specialized evaluation. 

No single change eliminates delayed diagnosis. But improving how risk is recognized has the potential to help more patients receive timely evaluation and treatment before permanent vision loss occurs. For individuals with Down syndrome, this could be especially meaningful. A diagnosis made earlier means more options, more time to intervene, and a better chance of preserving the vision that supports independence and quality of life.