Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models

Genetic studies of both population-based and recruited affected patient cohorts have identified a number of genomic regions and candidate genes that may contribute to myopic development. Scientists have developed animal models of myopia, as collection of affected tissues from patents is impractical. Recent advances in whole exome sequencing technology show promise for further elucidation of disease causing variants as in the recent identification of rare variants within ZNF644 segregating with pathological myopia. We present a review of the current research trends and findings on genetic contributions to myopic refraction including candidate loci for myopic development and their genomic convergence with expression studies of animal models inducing myopic development.

► Genetic studies have identified over 30 candidate regions in the human genome for myopia. ► Next generation sequencing shows promise for further identification of disease causing variants. ► Genomic convergence of these candidate loci and expression analysis in animal models.