News
07 January 2013
Fight for Sight-funded clinical researcher, Dr Colin Willoughby (CVVS, QUB), along with colleagues from Australia, USA, Singapore and UK, have published new research looking at potential genetic markers that are associated with keratoconus, a common corneal disorder.
This research paper was published online in Nature Genetics.
The team have been working to identify molecular targets for this condition which has a strong genetic basis. The project identified key risk factors which will allow researchers to develop treatments based on therapeutic targets to prevent the disease from developing or progressing. The study also found links between genetic variants controlling corneal thickness and glaucoma risk.
Keratoconus is the leading reason for corneal transplantation in the developed world – currently the only possible treatment - with one-fifth of patients eventually requiring a transplant. It accounts for a quarter of the 2,500 corneal transplants performed in the UK each year.
The sight of patients with keratoconus degenerates as they suffer increasing myopia and irregular astigmatism as the cornea progressively thins and bows forward. Without transparency and refraction in the cornea, it is impossible to have normal vision.
Usually striking during the teenage years and affecting approximately one in 2,000 people, keratoconus is a significant health burden for work-age adults.
Dr Dolores Conroy, Director of Research for Fight for Sight said: “Despite the visual and social impact of keratoconus, the underlying biochemical processes and pathobiology remain poorly understood. The new findings used genome wide association analyses on central corneal thickness from over 20,000 people and identified a number of genes. As a thin cornea is seen in keratoconus these genetic markers were assessed in patients from Northern Ireland and Australia and a number of genetic factors were found to be associated with the development of keratoconus but these need further study. Corneal transplantation, although effective, carries inherent risk so research into alternative treatments for keratoconus is welcomed.