IMI - Myopia Genetics Report
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
International Myopia Institute, Brien Holden Vision Institute, Carl Zeiss Vision, Coopervision, Essilor, Alcon, and Vision Impact Institute
Investigative Ophthalmology & Visual Science, Arvo Journal
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.
To access the Clinical Summaries in all languages, click here: https://myopiainstitute.org/imi-white-papers/