Predicting the risk of who will develop glaucoma

Fight for Sight funded researcher and lead author, Dr Pirro Hysi, from Kings College London:

"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."

The results from a Fight for Sight funded study could pave the way for a genetic based screening program for glaucoma in results published in Nature Genetics in May 2018.



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Why was this research needed?
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. Developing a genetic-based screening program could help prevent patients from losing their sight to glaucoma by allowing treatments to be provided in the early stages of the disease process.

What were the results of the research project?
To better understand the development of glaucoma, 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. This data allowed researchers to identify 112 genetic variants in the DNA of those who had high intraocular pressure which means they were at the highest risk of developing the condition.

How will this research impact patients?
The genetic variants identified in this study will help increase our understanding of the pathways involved in intraocular pressure and glaucoma.
The results will also open up the possibility of using genetic markers to improve disease screening for patients. The possibility of predicting the risk of an individual developing glaucoma has increased due to the knowledge gained. It may be possible to measure predictive genetic markers as early as birth, even though glaucoma develops later in adulthood.

These results help researchers to better understand the previously unknown mechanisms that cause glaucoma. By understanding how glaucoma develops, patients who have the condition and those who may develop it can be supported.

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