title: Molecular genetics of human myopia: an update.
abstract: 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 morbidities of retinal detachment, macular choroidal degeneration, premature cataract, and glaucoma. Ample evidence documents the heritability of the non-syndromic forms of this condition, especially for high-grade myopia, commonly referred to as myopic spherical refractive power of 5 to 6 diopters or higher. Multiple high-grade myopia genetic loci have been identified, and confirmatory studies identifying high-grade and moderate myopia loci have also occurred. In general, myopia susceptibility genes are unknown with few association studies performed, and without confirmation in other research laboratories or testing of separate patient cohorts.
authors.affiliation: Department of Ophthalmology and Pediatrics, The Duke Eye Center and the Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA. terri.young@duke.edu
authors.forename: Terri L
authors.initials: TL
authors.lastname: Young
mesh_terms: D000818:Animals; D002648:Child; D004195:Disease Models, Animal; D004493:Education / Q000592:standards; D005123:Eye / Q000254:growth & development; D006801:Humans; D008137:Longitudinal Studies; D008967:Molecular Biology / Q000379:methods / Q000639:trends; D009216:Myopia / Q000453:epidemiology / Q000235:genetics*; D009799:Ocular Physiological Phenomena; D012106:Research / Q000639:trends*; D012307:Risk Factors