Researchers identify genetic variants that may predict glaucoma risk

A study co-authored by Moorfields consultant eye surgeon Anthony Khawaja could pave the way for a genetic-based screening program to help identify the world’s leading cause of incurable blindness.

The breakthrough represents a major advance in the fight to tackle glaucoma, a condition which has virtually no symptoms in the early stages and affects 480,000 people in England and millions worldwide.

To better understand the development of glaucoma, a team of scientists from the UK and USA[1] studied 140,000 people from a very large database (the UK Biobank and EPIC-Norfolk). Elevated pressure in the eye is the most important risk factor for glaucoma, so pressure readings were taken and compared with a DNA analysis of each patient to assess how likely it was that they would develop the condition.

The team was able to identify 133 genetic variants in the DNA of those who had high pressure readings, and so were at highest risk of developing the condition. The genetic variations were able to predict whether someone might develop glaucoma with 75% accuracy.

Anthony Khawaja, who is also a researcher associated with the NIHR Biomedical Research Centre at Moorfields and UCL Institute of Ophthalmology said:

Anthony Khawaja, consultant eye surgeon at Moorfields

“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.”

Moorfields Eye Charity supports Anthony as part of its investment in the current and future leaders of ophthalmic research. These grant programmes help researchers from Moorfields and the UCL Institute of Ophthalmology to focus on making new discoveries with our partners and patients.

Robert Dufton, chief executive at Moorfields Eye Charity said:

“Providing funding for the development of research career pathways is extremely important to Moorfields Eye Charity. We are delighted to be supporting Anthony by enabling him to take time to focus on research alongside his clinical activities.  This investment of philanthropic support in pioneering research has the ability to improve diagnosis, treatment and understanding of sight loss.”

What are the next steps?

Anthony Khawaja, consultant eye surgeon at Moorfields, speaks with Moorfields Eye Charity about future studies that could help identify people at risk of glaucoma before their sight is damaged. 

Notes to editors

[1]The study was led by scientists from King’s College London, University College London, Moorfields Eye Hospital, Massachusetts Eye and Ear and Harvard Medical School.

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