Genetics of myopia: Gene finding and beyond

Abstract

AbstractThe knowledge on the genetic background of refractive error and myopia has expanded dramatically in the past few years. To date, over 500 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. However, also patients with low scores can develop myopia and vice versa. 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 including 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 are needed. Functional characterization of associated variants is simultaneously needed to bridge the knowledge gap between sequence variance and consequence for eye growth.