Professor Jeremy A. Guggenheim School of Optometry & Vision Sciences Cardiff University, UK

Association Between Polygenic Risk Score and Risk of Myopia Interview with:
Professor Jeremy A. Guggenheim School of Optometry & Vision Sciences Cardiff University, UKProfessor Jeremy A. Guggenheim

School of Optometry & Vision Sciences
Cardiff University, UK What is the background for this study?

Response: Near-sightedness (myopia) usually develops during childhood and necessitates the use of glasses or contact lenses to correct blurry distance vision. It is also a risk factor for sight-threatening disorders such as glaucoma, retinal detachment and macular degeneration. Promising treatments designed to slow the progression of myopia are becoming available. Building on previous research suggesting that some individuals are genetically predisposed to near-sightedness, we investigated whether a genetic test could identify children at risk of developing myopia. What are the main findings?

Response: We devised a genetic test for myopia by studying the genetic features of participants in UK Biobank, a major study of health and well-being involving 500,000 UK citizens. The genetic test was evaluated in a completely separate group of individuals from the UK (adult participants in the ‘Avon Longitudinal Study of Parents and Children’, ALSPAC). The genetic test was far from perfect. However, it did demonstrate some capacity to detect individuals who were at an increased risk of myopia. For example, it identified 1 in 10 persons who were six times more likely than average to develop severe near-sightedness by the time they reached adulthood. What should readers take away from your report? 

Response: The current genetic test is not accurate enough for us to recommend its use by eye care specialists. However, the results are encouraging and suggest that with further refinement a genetic test for myopia may become a reality. What recommendations do you have for future research as a result of this work? 

Response: Large-scale genetic studies such as the ‘All of Us’ research program in the US that is recruiting participants from a wide range of ethnic or racial groups will be needed if genetic tests such as this are to become available to everyone in the future. 


Ghorbani Mojarrad N, Plotnikov D, Williams C, Guggenheim JA, for the UK Biobank Eye and Vision Consortium. Association Between Polygenic Risk Score and Risk of Myopia. JAMA Ophthalmol. Published online October 31, 2019. doi:10.1001/jamaophthalmol.2019.4421


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Last Updated on November 2, 2019 by Marie Benz MD FAAD