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Myopia, or nearsightedness, is the most common eye disorder, resultingprimarily from excess elongation of the eye. The etiology of myopia, althoughknown to be complex, is poorly understood. Here we report the largest evergenome-wide association study (43,360 participants) on myopia in Europeans. Weperformed a survival analysis on age of myopia onset and identified 19significant associations (p < 5e-8), two of which are replications of earlierassociations with refractive error. These 19 associations in total explain 2.7%of the variance in myopia age of onset, and point towards a number of differentmechanisms behind the development of myopia. One association is in the genePRSS56, which has previously been linked to abnormally small eyes; one is in agene that forms part of the extracellular matrix (LAMA2); two are in or neargenes involved in the regeneration of 11-cis-retinal (RGR and RDH5); two arenear genes known to be involved in the growth and guidance of retinal ganglioncells (ZIC2, SFRP1); and five are in or near genes involved in neuronalsignaling or development. These novel findings point towards multiple geneticfactors involved in the development of myopia and suggest that complexinteractions between extracellular matrix remodeling, neuronal development, andvisual signals from the retina may underlie the development of myopia inhumans.

Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia