Translating discoveries about the genetics of myopia into benefits for patients

Research details

  • Type of funding: Project Grant
  • Grant Holder: Professor Jeremy Guggenheim
  • Institute: Cardiff University
  • Region: Wales
  • Start date: April 2021
  • End Date: September 2025
  • Priority: Early diagnosis
  • Eye Category: Other
Brief Lay background

Short-sightedness (myopia) is a common condition that affects a person’s ability to see objects far away clearly. It is a leading cause of irreversible visual impairment.

Approximately 1 in 3 people in the UK have myopia, and the condition also increases the risk of developing some serious eye conditions, such as retinal detachment – where the light-sensitive tissue at the back of the eye is pulled away from its normal position.

What problem/knowledge gap does it help address

A combination of genetics and lifestyle factors – such as time spent outdoors, and years spent in education – can affect the risk of developing myopia.

Research has now identified around 450 commonly occurring genetic variations that can increase the risk of developing myopia. But it is unclear how these genetic variants interact with lifestyle factors to cause myopia – and how this knowledge can be used to detect the condition earlier and improve outcomes for people who are most at risk of sight loss.

Aim of the project

To translate discoveries about the genetics of myopia into benefits for patients.

Key procedures/objectives

The researchers will harness information from the UK Biobank Study, an ongoing study investigating the role of genetics and lifestyle in determining the health and well-being of half a million adults. They will

  1. Optimise a genetic test that can help predict which children will develop severe myopia.
  2. Assess whether this test can also identify people with severe myopia who are at a higher risk of developing other associated eye conditions.
  3. Undertake more detailed genetic analyses to gain new insight into the biological mechanisms behind the development of myopia.
Potential impact on people with sight loss

Developing a new test that can accurately predict a child’s genetic predisposition to developing severe myopia and associated sight-threatening conditions could lead to tailored interventions – such as lifestyle advice, closer monitoring and/or early treatment – that can help to improve their outcomes.

In the longer term, improving understanding of the biological mechanisms behind the development of myopia may inspire future treatments or lifestyle changes that can help reduce the impact of the condition on people’s lives.