MRC Human Genetics Unit
Medical Research Council Human Genetics Unit


Genetic links to corneal disorders

Genetics of corneal thickness link to corneal disease: May 2018

A study co-authored by scientists at the MRC Human Genetics Unit suggests that the genetic factors that predispose someone to have a thin cornea significantly increase their risk of developing keratoconus, the main cause of corneal transplant in the UK. 1 in 2000 people in the UK have keratoconus, a progressive eye disease in which the normally round cornea thins and begins to bulge into a cone-like shape distorting vision. The large genetic study of corneal thickness determinants was an international effort allowing analysis of over 25,000 individuals of European and Asian descent. Study of the mechanisms underlying these associations promises to help better understand how keratoconus is triggered, which could lead to new treatment options.

These findings are important for better understanding of corneal disease, including keratoconus, and we are continuing this work through laboratory-based experiments to elucidate the biological functions of some of these genetic risk factors

Veronique VitartGroup Leader, MRC Human Genetics Unit, University of Edinburgh

Original Article:

Iglesias AI et al. Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nat Commun. 2018 May 14;9(1):1864. 



Vitart research programme 

RNIB information on keratoconus (external website)

diagram of eye showing cornea and corneal cell layers