The National Keratoconus Foundation is leading one of the largest patient-centered research initiatives ever undertaken in keratoconus. Through a nationwide survey developed by researchers at the Gavin Herbert Eye Institute at the University of California, Irvine, thousands of individuals with keratoconus and their caregivers have shared their experiences to help improve understanding of the disease beyond what can be learned in the clinic alone. The project explores every stage of the patient journey, from diagnosis and treatment to quality of life, emotional wellbeing, access to care, and communication with eye care providers. 

One of NKCF’s core goals is ensuring that every person affected by keratoconus is represented in this research — not just those whose experiences are easiest to capture. For that reason, the research team made a deliberate decision to include individuals with Down syndrome and their caregivers. They represent one of the populations at greatest risk for developing keratoconus, yet their experiences have too often been absent from the research that shapes clinical understanding and policy. 

Research over the past several years has consistently shown that keratoconus occurs far more frequently in people with Down syndrome than in the general population. Yet despite this well-established association, many families continue to face delayed diagnosis, limited awareness among providers, and uncertainty about what to watch for and when to seek specialized evaluation. Our research team believes these experiences deserve to be heard and understood. 

By including individuals with Down syndrome and their caregivers in this national survey, NKCF hopes to better understand the unique challenges families encounter, from recognizing early vision changes and navigating referrals to accessing specialty care and understanding available treatment options. Caregiver perspectives are especially important, as many individuals with Down syndrome rely on family members to notice subtle changes in vision and advocate for timely evaluation. 

The Down syndrome cohort will become an integral part of NKCF’s broader research initiative examining the lived experience of keratoconus. The goal is to generate evidence that informs future research, strengthens advocacy, guides educational initiatives, and ultimately helps more individuals with Down syndrome receive earlier diagnosis and timely care.