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Researchers identify genetic variants that may predict glaucoma risk

May 21, 2018

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Suzanne Day
Media Relations Manager, Mass. Eye and Ear
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Boston, Mass. — A new study led by scientists from King’s College London, University College London, Massachusetts Eye and Ear and Harvard Medical School has identified 133 genetic variants that could pave the way for a genetic-based screening program to help identify the world’s leading cause of incurable blindness — glaucoma.

The breakthrough represents a major advance in the fight against glaucoma, a degenerative condition that has virtually no symptoms in the early stages and affects approximately 2.2 million people in the United States and millions more worldwide. 

To better understand the development of glaucoma, scientists studied 140,000 people drawn from the UK Biobank and EPIC-Norfolk. Eye pressure readings were taken which were compared with a DNA analysis of each patient to assess how likely it was that they would develop the condition. Elevated pressure in the eye is the most important risk factor for glaucoma and is created by the continual renewal of fluids within the eye.

By comparing the pressure test results with a genetic analysis of the many common, small variations in DNA that contribute a tiny amount to overall eye pressure, 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 percent accuracy.

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 health care resources on those most at risk."

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."

Dr. Janey Wiggs, co-author from Massachusetts Eye and Ear and Harvard Medical School said: “This study demonstrates the enormous power of large datasets allowing detection of these important genetic risk factors.

"Glaucoma remains the leading cause of incurable blindness in the world, but the hope is that this important piece of research could help millions by leading to faster and more accurate diagnoses in the future."

There are virtually no symptoms of glaucoma in the early stages and no pain is associated with increased eye pressure. Vision loss begins with the loss of peripheral vision, although this may go unnoticed as sufferers may compensate for this unconsciously, by turning their head to the side. Some patients may not notice anything until significant vision is lost. 


Adapted from a news release issued by Kings College London.

This research was supported by the National Eye Institute, a part of the National Institutes of Health.

About Massachusetts Eye and Ear 
Massachusetts Eye and Ear, founded in 1824, is an international center for treatment and research and a teaching hospital of Harvard Medical School. Specializing in ophthalmology (eye care) and otolaryngology-head and neck surgery (ear, nose and throat care), Mass. Eye and Ear clinicians provide care ranging from the routine to the very complex. Also home to the world's largest community of hearing and vision researchers, Mass. Eye and Ear has pioneered new treatments for blindness, deafness and diseases of the head and neck. Our scientists are driven by a mission to discover the basic biology underlying these conditions and to develop new treatments and cures. In the 2017-2018 "Best Hospitals Survey," U.S. News & World Report ranked Mass. Eye and Ear #1 in New England for eye (#4 in nation) and ear, nose and throat care (#2 in nation).For more information about life-changing care and research at Mass. Eye and Ear, please visit our blog, Focus, and follow us on Twitter and Facebook.

About Harvard Medical School Department of Ophthalmology
The Harvard Medical School (HMS) Department of Ophthalmology (eye.hms.harvard.edu) is one of the leading and largest academic departments of ophthalmology in the nation. More than 350 full-time faculty and trainees work at nine HMS affiliate institutions, including Massachusetts Eye and Ear, Schepens Eye Research Institute of Massachusetts Eye and Ear, Massachusetts General Hospital, Brigham and Women’s Hospital, Boston Children’s Hospital, Beth Israel Deaconess Medical Center, Joslin Diabetes Center/Beetham Eye Institute, Veterans Affairs Boston Healthcare System, VA Maine Healthcare System, and Cambridge Health Alliance. Formally established in 1871, the department has been built upon a strong and rich foundation in medical education, research, and clinical care. Through the years, faculty and alumni have profoundly influenced ophthalmic science, medicine, and literature—helping to transform the field of ophthalmology from a branch of surgery into an independent medical specialty at the forefront of science.