Myopia: Risk Factors, Disease Mechanisms, Diagnostic Modalities, and Therapeutic Options (original) (raw)

Update on Myopia Risk Factors and Microenvironmental Changes

Journal of Ophthalmology, 2019

The focus of this update is to emphasize the recent advances in the pathogenesis and various molecular key approaches associated with myopia in order to reveal new potential therapeutic targets. We review the current evidence for its complex genetics and evaluate the known or candidate genes and loci. In addition, we discuss recent investigations regarding the role of environmental factors. This paper also covers current research aimed at elucidating the signaling pathways involved in the pathogenesis of myopia.

Ophthalmology 2 Myopia

Myopia has emerged as a major health issue in east Asia, because of its increasingly high prevalence in the past few decades (now 80–90% in school-leavers), and because of the sight-threatening pathologies associated with high myopia, which now aff ects 10–20% of those completing secondary schooling in this part of the world. Similar, but less marked, changes are occurring in other parts of the world. The higher prevalence of myopia in east Asian cities seems to be associated with increasing educational pressures, combined with lifestyle changes, which have reduced the time children spend outside. There are no reported major genes for school myopia, although there are several genes associated with high myopia. Any genetic contribution to ethnic diff erences may be small. However, to what extent many genes of small eff ect and gene-environment interactions contribute to variations in school myopia within populations remains to be established. There are promising optical and pharmacological interventions for preventing the development of myopia or slowing its progression, which require further validation, and promising vision-sparing treatments for pathological myopia.

Genes, Proteins and Biological Pathways in Human and Animal Myopia

2019

Myopia (short-sightedness) is approaching pandemic prevalence of vast socioeconomic and public health importance in many Asian communities, with approximately 50% of the world population estimated to be affected by 2050. Several genetic and environmental factors have been implicated in the emergence and progression of myopia. However, what makes this disease so complex is that there is very little overlap in genes linked to Mendelian diseases as listed on the Online Mendelian Inheritance in Man (OMIM) database and single nucleotide polymorphisms in Genome-Wide Association Studies (GWAS). To add a further dimension of complexity to this disease, animal research has implicated many genes and proteins in the development of myopia, again, with no common genes identified across all platforms. What is immediately apparent is the existence of a complex gene-environment relationship and rather than focusing on individual genes, efforts should be redirected to identify biological pathways driving myopic growth. Thus, identifying a molecular fingerprint specific to myopia is essential to ensure early diagnosis and to facilitate the generation of new therapeutic avenues.

Insight into the molecular genetics of myopia

Molecular Vision, 2017

Myopia is the most common cause of visual impairment worldwide. Genetic and environmental factors contribute to the development of myopia. Studies on the molecular genetics of myopia are well established and have implicated the important role of genetic factors. With linkage analysis, association studies, sequencing analysis, and experimental myopia studies, many of the loci and genes associated with myopia have been identified. Thus far, there has been no systemic review of the loci and genes related to non-syndromic and syndromic myopia based on the different approaches. Such a systemic review of the molecular genetics of myopia will provide clues to identify additional plausible genes for myopia and help us to understand the molecular mechanisms underlying myopia. This paper reviews recent genetic studies on myopia, summarizes all possible reported genes and loci related to myopia, and suggests implications for future studies on the molecular genetics of myopia.

Novel Myopia Genes and Pathways Identified From Syndromic Forms of Myopia

Investigative ophthalmology & visual science, 2018

To test the hypothesis that genes known to cause clinical syndromes featuring myopia also harbor polymorphisms contributing to nonsyndromic refractive errors. Clinical phenotypes and syndromes that have refractive errors as a recognized feature were identified using the Online Mendelian Inheritance in Man (OMIM) database. One hundred fifty-four unique causative genes were identified, of which 119 were specifically linked with myopia and 114 represented syndromic myopia (i.e., myopia and at least one other clinical feature). Myopia was the only refractive error listed for 98 genes and hyperopia and the only refractive error noted for 28 genes, with the remaining 28 genes linked to phenotypes with multiple forms of refractive error. Pathway analysis was carried out to find biological processes overrepresented within these sets of genes. Genetic variants located within 50 kb of the 119 myopia-related genes were evaluated for involvement in refractive error by analysis of summary statis...

Assessment of TGIF as a Candidate Gene for Myopia

Investigative Ophthalmology & Visual Science, 2008

Transforming growth ␤-induced factor (TGIF) has been identified as a candidate gene for high myopia through genetic linkage studies and through its role in ocular growth in animal studies. However, the association of single nucleotide polymorphisms (SNPs), based solely on myopia refraction, has so far been inconclusive. This is the first study conducted to investigate the association of TGIF with refraction and ocular biometric measurements. METHODS. Twelve tag SNPs (tSNPs) encompassing the TGIF gene and 2 kb upstream of its promoter region were used to evaluate the association between TGIF variants with both ocular biometric measures and refraction. A total of 257 cases of myopia (spherical equivalent [SE] worse than Ϫ0.50 D) and 294 control subjects (no myopia) were genotyped. Genotype frequencies were analyzed by 2 test and one-way ANOVA. RESULTS. Two tSNPs showed significant association with biometric measures, with the SNP rs8082866 being associated with both axial length (P ϭ 0.013) and corneal curvature (P ϭ 0.007) and the SNP rs2020436 being associated with corneal curvature (P ϭ 0.022). However, these associations became nonsignificant after multiple testing (Bonferroni correction). CONCLUSIONS. Findings of this study suggest that the TGIF gene is unlikely to play a major role in either ocular biometric measures or refraction in a Caucasian population. Future studies should focus on other genes in the MYP2 linkage region or other linked regions to identify myopia-causing genes. (Invest Ophthalmol Vis Sci. 2008;49:49 -54)

Myopia: Current Cellular Concepts on the Pathology and Mechanisms

As one of the major sensations in most of the land-dwelling animals, vision is particularly important to human and the quality of life would be substantially affected if visual function is impaired. Among various ophthalmic disorders/conditions, myopia is now emerged as one of the major public health concerns world-wide (especially in Asia). Although myopia is usually easily managed by efficient vision aids (e.g. spectacles/glasses), myopia results in remarkable socio-economic impacts. Together with that the prevalence of myopia is increasing world-wide, myopia shall not be overlooked and deserves a holistic and careful investigation into its pathologies and pathogenic mechanisms. For the purpose of encouraging more people to join myopia research, this review is aimed to provide an up-to-date background on the current myopia research (focused mainly on the cellular/molecular level). Additionally, the common research techniques involved and the impacts contributed by different ocular...