Moorfields leads study uncovering genetic basis of keratoconus

Professor Alison Hardcastle and Professor Stephen Tuft at UCL Institute of Ophthalmology and Moorfields Eye Hospital, with their collaborator Dr Pirro Hysi at Kings College London, led an international study to find the genetic basis of keratoconus, a disease that causes thinning and distortion of the cornea, the transparent layer at the front of the eye.

The study examined DNA from over 4,600 individuals with keratoconus and found 36 different regions in the human genome that make an individual more likely to develop keratoconus. Identification of these genetic risk factors has highlighted some of the mechanisms involved, including problems with the fibres that provide structure for the cornea.

Identifying individuals who are most at risk of developing keratoconus before there has been significant sight loss is a challenge, most patients already have sight loss by the time they attend the hospital clinic. The knowledge gained from this study can be used to develop a genetic test to identify individuals at risk of keratoconus, at a stage when vision can be preserved. The results of this study could also help in the development of more effective treatments in the future.

Professor Stephen Tuft, consultant ophthalmologist at Moorfields Eye Hospital, said: “If we can find ways to identify keratoconus early, we can act and prevent progression of the disease in the great majority of cases.”

This study was supported by Moorfields Eye Charity.

Read the paper in Nature Communications Biology.