Keratoconus study identifies DNA variations
Author: Andrew McClean
An international team of researchers have detected DNA variations that could provide clues as to how keratoconus develops in a genetic study.
The study, published in Communications Biology, compared the full genetic code of 4,669 people with keratoconus to that of 116,547 people who do not have the condition.
Professor Alison Hardcastle, study lead, said: ‘This study represents a substantial advance of our understanding of keratoconus. We can now use this new knowledge as the basis for developing a genetic test to identify individuals at risk of keratoconus, at a stage when vision can be preserved, and in the future develop more effective treatments.’
A team pinpointed short sequences of DNA that were significantly altered in genomes of people with keratoconus, which it said provided clues about how it develops.
Findings indicated that people with keratoconus tend to have faulty collagen networks in their corneas and that there may be abnormalities in the cells’ programming which affect their development.
Hardcastle’s team included researchers from the UK, US, Czech Republic, Australia, the Netherlands, Austria and Singapore.