Cracking the code of rare eye diseases

Twenty years ago, a patient with a mysterious corneal condition came to then-junior doctor and now-University of Liverpool researcher, Professor Colin Willoughby, for help.

The young boy had an unknown family condition that from childhood causes spontaneous, recurrent, painful scratches on the cornea.

Now, using the latest quick and affordable genetic techniques, Professor Willoughby has finally helped to solve the mystery of why this happens to the Ridland-Kadiri family in Liverpool, as well as similar families in New Zealand and Australia.

The research concluded that the family carries a defective gene for a collagen protein, type 17, which causes epithelial recurrent erosion dystrophies (ERED). The collagen was known to be important in skin – and, after this study, the eye as well.

The finding was an important moment for the Ridland-Kadiri family, Professor Willoughby told OT.

He explained: “The family had kept in touch with me. It was nice to come back to them with the reason for this problem they’d had.”

The ability to test a person’s DNA – such as the newborn daughter of the family – for the untreatable condition was now possible. “As a parent, I think, it’s helpful to know if it’s a positive or a negative,” Professor Willoughby said.

The connection of this family’s condition with collagen 17 could be useful in understanding more common forms of corneal dystrophy, he added.

Professor Willoughby is now working with a University of Liverpool colleague, Dr Kevin Hamill, who has previously studied collagen 17, to see if the protein is involved in the healing of the corneal epithelium. The answer could have a widespread impact.

“We can then take this to the next level, to function and therapy,” Professor Willoughby emphasised.

It was also likely that unrelated and unidentified faulty genes also caused different types of ERED, he explained.