Researchers may be able to predict glaucoma risk

Researchers have identified 112 genetic variants, 68 of which are novel, associated with intraocular pressure and the development of primary open angle glaucoma (POAG), the leading cause of irreversible sight loss globally. Results from the study were published in Nature Genetics.

Glaucoma is the name for a group of eye conditions that cause sight loss due to damage to the optic nerve, which is often associated with high intraocular pressure. As sight loss in glaucoma occurs slowly over time, people can initially be unaware that they have the condition until it is more severe.

Scientists examined approximately 140,000 participants in the largest genome-wide associated study of intraocular pressure. The participant’s eye pressure readings were taken and compared with their DNA analysis in order to assess the probability of developing glaucoma.

The genetic variants identified in this study will help increase our understanding of the pathways involved in intraocular pressure and glaucoma. It will also open up the possibility of using genetic markers to improve disease screening. The possibility of predicting the risk of an individual developing glaucoma has increased due to the knowledge gained from this research.

A Fight for Sight funded researcher and lead author, Dr Pirro Hysi, said: "Knowing someone’s genetic risk profile might allow us to predict what risk of glaucoma he or she carries so that in the future we can focus scarce health care resources on those most at risk."

Fight for Sight’s Grants Assessment Panel Chair, Professor Chris Hammond, said “As well as potentially being able to predict who is most at risk of glaucoma, this study has discovered new pathways that might be involved in glaucoma, opening up the possibility of future new treatments, though much research is still needed to understand how these genetic changes result in higher eye pressure and glaucoma.”

Co-author Dr Anthony Khawaja from the NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, said: “With this new knowledge, we are now more able to predict the risk of an individual developing glaucoma. The predictive genetic markers could be measured as early as birth, even though glaucoma develops later in adulthood.

‘These results help us to better understand the previously unknown mechanisms that cause this damaging disease. By understanding how glaucoma develops we can, in time, get ahead of the curve of the condition and support both those living with the disease and those who may develop it."

Chris Hammond received funding for a PhD studentship award for Mark Simcoe. Pirro G Hysi is the recipient of a Fight for Sight Early Career Investigator fellowship. Paul J Foster received additional support from the Richard Desmond Charitable Trust via Fight for Sight.