Researchers hoping to learn more about the genetic underpinnings of myopia development have linked two single-nucleotide polymorphisms (SNPs) to moderate and high myopia, while four others confer risk to excessive axial length in children, a recent study suggests.

This study included 3,300 children aged five to 10 years old (137 had moderate to high myopia, 670 had mild myopia and 2,493 were controls). A team selected 13 SNPs in 13 genes/loci for genotyping and analyzed the associations between each with myopia severities and ocular traits.

When compared with controls, the researchers found three SNPs nominally associated with myopia, while two others exhibited stronger associations with moderate and high myopia and yet another had a stronger association with mild myopia and showed a difference between emmetropia and hyperopia.

Three of these SNPs were correlated with both myopic spherical equivalent and axial length elongation, another correlated with both axial length and corneal radius and three more correlated with the AL-CR ratio.

Growing interest in interventions to mitigate myopia may be supported by basic science work of this sort, as a way of providing potential therapeutic targets for future studies.


Li FF, Lu SY, Tang SM, et al. Genetic associations of myopia severities and endophenotypes in children. Br J Ophthalmol. August 14, 2020. [Epub ahead of print].