While myopia is an increasingly common refractive error worldwide, its prevalence is greatest in urbanized regions in east Asia. Myopia is a complex multifactorial ocular disorder governed by both genetic and environmental factors and possibly their interplay. Evidence for a genetic role in myopia has been derived from studies of syndromal myopia, familial correlation studies and linkage analyses. More recently, candidate gene and genome-wide association studies have been utilized. However, a high proportion of the heritability of myopia remains unexplained. Most genetic discoveries have been for high myopia, with the search for genes underpinning myopia of lesser severity yielding fewer positive associations. This may soon change with the use of next-generation sequencing, as well as the use of epigenetics and proteomic approaches. © 2013 Expert Reviews Ltd.