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Glaucoma: searching for its genetic causes

NATURE GENETICS: THE RISK OF BEING AFFECTED BY GLAUCOMA COULD BE TO PREDICTED WITH A 75% ACCURACY RATE

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Riduzione del campo visivo di un glaucomatoso (Visual field reduction in a person affected by glaucoma. Source: Scientific Reports)

Thanks to a genetic test, the risk of developing glaucoma - an illness which is often linked to high eye pressure - could be predicted with a 75% accuracy rate in the future. This is what a study carried out by several university researchers on Nature Genetics has claimed. The genetic study was conducted on a large database of nearly 140 thousand people.

British and American scientists have identified 133 genetic variations of the most widespread type of glaucoma (also known as open-angle glaucoma), some of which are entirely new. In fact this disease is hereditary: people with relatives affected by glaucoma should see an ophthalmologist regularly.

Dr. Pirro Hysi (King’s College, London, UK) who directed the research, declared:

Knowing someone’s genetic risk profile might allow us to predict what risk of [developing] glaucoma he or she carries so that in the future we can focus scarce health care resources on those most at risk.

Since glaucoma is a serious cause of irreversible blindness globally (it affects 55 million people), the aim is to prevent the damage it may cause to the optic nerve. Thanks to an early diagnosis, patients can receive a timely therapy to reduce high eye pressure (usually by means of specific eye drops). Glaucoma can currently be diagnosed only through an ophthalmologic examination, which includes a measurement of the tone of the eye (tonometry). In short, we must never lose sight of prevention!

Sources: Nature Genetics, King’s College London, Pop. Science


Published on 27 August 2018.


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