Genetic Test to identify children at high-risk of short-sightedness

Thanks to research funded by Fight for Sight and Health and Care Research Wales, it will soon be easier to identify children at a high risk of short-sightedness or myopia in later life.

A research team led by scientists at Cardiff University has developed a genetic test that will identify an increased risk of myopia. The condition typically makes distance vision blurry. It typically develops in childhood and affects about one in three people in the UK.

‘The new genetic test holds promise for clinicians seeking to identify children who would benefit most from intensive treatment to delay the onset of short-sightedness’ says Professor Jeremy Guggenheim, who led the study.

“Fight for Sight is pleased to support work that moves research further from the bench to the bedside, and this work has a clinical benefit for those who are affected by sight loss," says r Steven Smith, grants manager for Fight for Sight. 

He adds, "While this work is still at an early stage, the use of available datasets and novel tools has allowed the team to obtain results which show promise that screening for children at risk of high myopia, in limited ethnic backgrounds currently, may be possible. This work paves the way for early interventions to delay and prevent myopia, bringing things a step closer to a better future for the next generation. “

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Early identification is vital for myopia

Short-sightedness can generally be corrected with glasses, contact lenses or refractive surgery. However, severe levels of short-sightedness can pose a risk of permanent sight impairment from myopic macular degeneration.

Early detection is vital because there are treatments available that can delay the onset of short-sightedness or slow its rate of progression during childhood – and reduce the chances of myopic macular degeneration.

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Worldwide participation in testing

The Cardiff-led research involved 492,000 participants from all over the world.

“We are hugely grateful to everybody who took part,” said Professor Guggenheim. ‘This international effort by researchers from the UK, Europe, Japan, Australia, China and the United States has demonstrated the potential of a genetic test for short-sightedness and set a clear path towards bringing the test to the clinic.’

A major limitation, however, is that the accuracy of the test depends on the ethnic background of the patient – this needs to be overcome before the test can move to the clinic.

Using Artificial Intelligence (AI) to diagnose myopic macular degeneration

To explore if the genetic test has value in patients who already have a severe level of short-sightedness, members of the research team from Japan created an artificial intelligence (AI) system. The researchers used the AI system to diagnose myopic macular degeneration in a sample of over 75,000 participants from the UK Biobank project.

UK Biobank is a large-scale biomedical database and research resource containing in-depth genetic and health information from half a million UK participants.

However, the genetic test did not improve on existing screening methods for patients with severe short-sightedness. ‘This was a disappointing result’, said Dr Rosie Clark from the research team, ‘but it does inform us where we should focus our genetic research efforts towards myopic macular degeneration in the future.’