A genetic perspective on myopia

Myopia is a refractive error of the eye that has a significant socioeconomic impact due to its increasing prevalence and the fact that it causes visual impairment. Its aetiology is complex and is likely to involve the interaction of environmental and genetic influences. Tight environmental influence is exemplified by defocus-induced myopia produced in animal models, while genetic factors predominate in familial occurrence of myopia with a Mendelian inheritance pattern. The involvement of numerous mediators, such as cytokines, neurotransmitters and transcription factors, in myopia development has been indicated through various lines of investigation, particular interest focussing on scleral extracellular matrix proteins and developmental genes of the eye. As high-throughput technology for large-scale genotyping and RNA expression analysis enters the field of myopia research, a productive avenue will open up for deciphering the aetiological heterogeneity of myopia and the biological pathways underlying its development.