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Updated: Jan 20, 2026
Genetic Engineering and Recombinant DNA Technology
Published on: April 30, 2023
An overview of myopia genetics
Xue-Bi Cai1, Shou-Ren Shen1, De-Fu Chen1
1Division of Ophthalmic Genetics, The Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University, National Center for International Research in Regenerative Medicine and Neurogenetics, State Key Laboratory of Ophthalmology, Optometry and Visual Science, Wenzhou, 325027, China.
Abstract:
Myopia is one of the leading ocular disorders causing visual impairment worldwide, with the prevalence increasing rapidly. It's a significant global public health concern in 21st century. Myopia, particularly high myopia, often exhibits apparent familial aggregation, and multiple evidences have shown that genetic factors significantly contribute to its pathogenesis. Recent molecular technologies such as linkage analysis, candidate gene authentication, genome-wide association study (GWAS), and next-generation sequencing (NGS) have identified many myopia-associated loci and genetic mutations or variants. There exist ethnic variations in myopia occurrence as observed in populations of different genetic backgrounds, and different genetic components are found to be associated with the development of myopia-related phenotypes. A better understanding of the genetic basis triggering and controlling myopic changes may further help in myopia prevention. This review is to provide an updated overview of genetic findings in non-syndromic myopia.
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