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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; IMI – Myopia Genetics Report. Invest. Ophthalmol. Vis. Sci. 2019;60(3):M89-M105. doi: https://doi.org/10.1167/iovs.18-25965.
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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.
We performed an extensive literature search and conducted informal discussions 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. This Committee recommends 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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