Researchers funded by Fight for Sight in partnership with Welsh Government, through Health and Care Research Wales, are developing a genetic test to identify people with severe short-sightedness (high myopia) who are most at risk of permanent damage to their eyesight and thus benefit from more frequent monitoring. 

The test may also help to identify children who are most at risk of developing severe short-sightedness.

The team of researchers at Cardiff University, led by Professor Jeremy Guggenheim, will harness existing information from the ‘UK Biobank’ - a study investigating the role of genetics and lifestyle in determining the health and wellbeing of 500,000 UK citizens - to explore what genes may cause a predisposition to severe short-sightedness.

Professor Jeremy Guggenheim said: “Our aim for this project is not only to determine what children are at risk of developing high myopia, but also to be able to identify those who are at above-average risk of sight-threatening eye disease. This will help us to identify people who would benefit from more frequent monitoring to detect early changes, since early treatment is known to improve clinical outcomes. In the longer term, this research will provide us with a greater understanding of the biological mechanisms that cause myopia, which will aid the development of new treatments or lifestyle changes for myopia that are more effective than those currently available.”

Currently about one in two people in the UK are short-sighted. Recent research has pinpointed hundreds of positions in the human genome that can increase a person’s susceptibility to short-sightedness. However, it is currently unclear how these genetic differences result in an increased risk of short-sightedness.

Although blurred vision is usually easy to correct with glasses or contact lenses, people with high myopia are at risk of sight loss due to thinning of the retina. It can also cause glaucoma and myopic macular degeneration in which central vision becomes distorted or blurred. This risk increases with the severity of myopia. Anyone with a prescription level of minus six or lower is considered to have high myopia. As a result, people who develop myopia early in childhood and whose condition continues to worsen as they get older are at most risk. 

Director of research at Fight for Sight, Dr Neha Issar-Brown, said: “We are delighted to partner with Health and Care Research Wales to fund this important research study. We know that when it comes to sight-threatening eye conditions, early detection is hugely important, and developing a genetic test to identify children at greater risk of severe shortsightedness will allow for earlier intervention, and in turn lead to better outcomes for children. Eye research is more important than ever in the age of the COVID-19 pandemic and we must continue to fund research for new, more efficient tests, treatments and cures for the leading causes of blindness and sight loss."

This is a three-year project with researchers hoping to have optimised a genetic test for severe short-sightedness in the next couple of years.

Director of Health and Care Research Wales, Professor Kieran Walshe, said: “Health and Care Research Wales is delighted to be supporting research which fits so well with our mission. This research could make a real difference to policy and practice and help to improve the quality of life and care for people at risk of severe short-sightedness.”