Myopia genetics: a review of current research and emerging trends

Myopia, or nearsightedness, is the most common human eye disorder in the world and is a significant global public health concern. Along with cataract, macular degeneration, infectious disease, and vitamin A deficiency, myopia is one of the most important causes of visual impairment worldwide. Severe or high-grade myopia is a leading cause of blindness because of its associated ocular comorbidities of retinal detachment, macular choroidal degeneration, premature cataract, and glaucoma. Ample epidemiologic and molecular genetic studies support heritability of the nonsyndromic forms of this condition.

Multiple myopia genetic loci have been identified, establishing this entity as a common complex disorder and underscoring the suitability for gene inquiry studies. Animal model research, primarily using form-deprivation techniques, implicates multiple altered regulation of biological substances in the ocular wall layers, which provides important information for prioritizing human candidate gene studies. Recent epidemiologic work supports a greater role for outdoor activity in relieving myopia progression rather than the previous touted young-age near-work activity model.

The identification of myopia susceptibility genes will not only provide insight into the molecular basis of this significant eye disorder, but will also identify pathways involved in eye growth and development. This effort may lead to effective therapies to treat or potentially prevent this common eye condition.