Children could be screened from birth to assess their lifetime risk of developing glaucoma after a breakthrough in identifying the genetic risk factors behind the world’s leading cause of incurable blindness.
An international study involving King’s College and University College in London identified 133 genetic variants that together predicted the chance of developing glaucoma with 75 per cent accuracy.
About 480,000 people in England and millions worldwide have the disease, which is caused by a build-up of pressure in the eye when fluid is unable to drain properly. This can damage the optic nerve, which connects the eye to the brain.
Glaucoma, which can be detected by routine eye tests, has virtually no symptoms in its early stages. It cannot be cured but its progress can be slowed. Risk increases with age and in those with conditions such as diabetes.
Today’s study was hailed as a major advance in treating glaucoma by opening up the possibility of a DNA screening programme to identify those most at risk.
Lead author Dr Pirro Hysi, from King’s College London, 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 healthcare resources on those most at risk.”
Co-author Dr Anthony Khawaja from Moorfields Eye Hospital 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.”
The research, which also involved Massachusetts Eye and Ear and Harvard Medical School, studied 140,000 patients whose genetic profiles were held on the UK Biobank and EPIC-Norfolk databases. EPIC-Norfolk was an ageing study into 25,000 people in the county in the Nineties.
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The researchers compared the DNA scores with eye-pressure readings to assess how likely it was that they would develop the condition. Elevated pressure in the eye seen in glaucoma is created by the continual renewal of fluids within the eye.
Researchers were able to identify 133 genetic variants in the DNA of those who had high-pressure readings.
