Our research into the genetic basis of keratoconus is ongoing. We know that genetic factors determine the risk of developing keratoconus, but environmental changes (e.g., eye rubbing, allergy) can then affect the rate of progression and the severity of the keratoconus. In 2021 we published the results of the world’s first large genetic study of keratoconus, which identified 39 genetic signals that influence the risk of developing corneal change. The study involved the participation of 4669 individuals with keratoconus, the majority from Moorfields Eye Hospital and the UK, and several other centres worldwide. We want to extend these studies and advance this research to learn more about the disease. One method is to enlist the help of families with multiple members affected by keratoconus. If you have three or more close family members diagnosed with keratoconus, such as parents, brothers or sisters, or children, we would be happy to discuss your participation. Participation would involve examining the eyes to confirm the presence of keratoconus and a small blood test to analyze your DNA. We hope that knowledge of the genetic changes that increase the risk of keratoconus could provide a way to identify patients at a stage where intervention could prevent visual loss and potentially lead to more effective treatments. For more information contact Professor Stephen Tuft (s.tuft@ucl.ac.uk).
Do you have family members with Keratoconus?
