IMI - Myopia Genetics Report

  • The knowledge on the genetic background of refractive error and myopia has expanded dramatically in the past few years.

  • This white paper aims to provide a concise summary of current genetic findings and defines the direction where development is needed. An extensive literature search was performed and informal discussions conducted with key stakeholders.

  • Specific topics reviewed included common refractive error, any and high myopia, and myopia related to syndromes.

  • To date, almost 200 genetic loci have been identified for refractive error and myopia, and risk variants mostly carry low risk but are highly prevalent in the general population.

  • Several genes for secondary syndromic myopia overlap with those for common myopia.

  • Polygenic risk scores show overrepresentation of high myopia in the higher deciles of risk. Annotated genes have a wide variety of functions, and all retinal layers appear to be sites of expression.

  • The current genetic findings offer a world of new molecules involved in myopiagenesis. As the missing heritability is still large, further genetic advances are needed.

  • Recommendations include expanding large-scale, in-depth genetic studies using complementary big data analytics, consideration of gene-environment effects by thorough measurement of environmental exposures, and focus on subgroups with extreme phenotypes and high familial occurrence.

  • Functional characterization of associated variants is simultaneously needed to bridge the knowledge gap between sequence variance and consequence for eye growth.

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Publication date

March 2, 2019


Investigative Ophthalmology & Visual Science, Arvo Journal

Sponsor Institution

International Myopia Institute, Brien Holden Vision Institute, Carl Zeiss Vision, Coopervision, Essilor, Alcon, and Vision Impact Institute


Milly S. Tedja; Annechien E. G. Haarman; Magda A. Meester-Smoor; Jaakko Kaprio; David A. Mackey; Jeremy A. Guggenheim; Christopher J. Hammond; Virginie J. M. Verhoeven; Caroline C. W. Klaver; for the CREAM Consortium
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