Institute of Genetics and Cancer

Genetic clues to retinal detachment

A large study has identified 6 regions of the human genome influencing risk of sight-threatening condition: December 2019

Retinal detachment

Retinal detachment is one of the most common eye emergencies in the UK, and can lead to blindness if not treated. Known risk factors, in addition to trauma or rare genetic conditions, include age, myopia (short sight) and cataract operation. 

A genetic research project led by a team at the MRC Human Genetics Unit has identified six regions of the human genome where common DNA variants affect the risk of developing this sight-threatening condition.  Those include two regions where associations had never been previously reported for other eye disorders, and four that have been associated with either neural retina thickness, myopia or glaucoma.  A combination of known myopia risk variants was also shown to significantly increase risk of retinal detachment, in agreement with observations of the patterns of this condition in the general population.

The new results were obtained by combining several studies with participants affected by retinal detachment, 3977 from UK Biobank and 2,164 participants with clinician-diagnosed rhegmatogenous retinal detachment recruited in London and Scotland.  Unaffected population-matched “controls” without the condition were participants in the UK Biobank and Generation Scotland studies.  Replication of the results used 9,171 self-reported cases and 406,168 controls (not self-reporting the condition) of European ancestry, from the personal genetics company 23andMe, Inc. customer database.

This genetic approach signposts molecular events leading to a detached retina and  shared risks between some eye conditions. We hope in the future to devise a genetic risk score allowing at-risk individuals to be identified at an early stage.

Veronique Vitart Study lead author - MRC Human Genetics Unit, University of Edinburgh