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INVOLVEMENT OF MULTIPLE MOLECULAR PATHWAYS IN THE GENETICS OF OCULAR REFRACTION AND MYOPIA.

ABSTRACT: PURPOSE:The prevalence of myopia has increased dramatically worldwide within the last three decades. Recent studies have shown that refractive development is influenced by environmental, behavioral, and inherited factors. This review aims to analyze recent progress in the genetics of refractive error and myopia. METHODS:A comprehensive literature search of PubMed and OMIM was conducted to identify relevant articles in the genetics of refractive error. RESULTS:Genome-wide association and sequencing studies have increased our understanding of the genetics involved in refractive error. These studies have identified interesting candidate genes. All genetic loci discovered to date indicate that refractive development is a heterogeneous process mediated by a number of overlapping biological processes. The exact mechanisms by which these biological networks regulate eye growth are poorly understood. Although several individual genes and/or molecular pathways have been investigated in animal models, a systematic network-based approach in modeling human refractive development is necessary to understand the complex interplay between genes and environment in refractive error. CONCLUSION:New biomedical technologies and better-designed studies will continue to refine our understanding of the genetics and molecular pathways of refractive error, and may lead to preventative and therapeutic measures to combat the myopia epidemic.

SUBMITTER: Wojciechowski R

PROVIDER: S-EPMC5636641 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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INVOLVEMENT OF MULTIPLE MOLECULAR PATHWAYS IN THE GENETICS OF OCULAR REFRACTION AND MYOPIA.

Wojciechowski Robert R Cheng Ching-Yu CY

Retina (Philadelphia, Pa.) 20180101 1

<h4>Purpose</h4>The prevalence of myopia has increased dramatically worldwide within the last three decades. Recent studies have shown that refractive development is influenced by environmental, behavioral, and inherited factors. This review aims to analyze recent progress in the genetics of refractive error and myopia.<h4>Methods</h4>A comprehensive literature search of PubMed and OMIM was conducted to identify relevant articles in the genetics of refractive error.<h4>Results</h4>Genome-wide as ...[more]

PMID: 28406858

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Project description:The aim of this study is to investigate if baseline relative peripheral refraction (RPR) influences the myopia control effects in Chinese myopic children wearing Defocus Incorporated Multiple Segments (DIMS) lenses. Peripheral refraction at 10°, 20°, and 30° nasal (10 N, 20 N, 30 N) and temporal (10 T, 20 T, 30 T) retina were measured at six-month intervals for children who participated in a 2-year randomized controlled trial. The relationship between the baseline peripheral refractions and myopia progression and axial length changes were analysed. A total of 79 children and 81 children in the DIMS and single vision (SV) group were investigated, respectively. In the DIMS group, more baseline myopic RPR spherical equivalent (SE) was associated with more myopic progression (10 N: r = 0.36, p = 0.001; 20 N: r = 0.35, p = 0.001) and greater axial elongation (10 N: r = −0.34, p = 0.001; 20 N: r = −0.29, p = 0.006) after adjusting for co-factors. In the SV group, baseline RPR had association with only myopia progression (10 N: r = 0.37, p = 0.001; 20 N: r = 0.36, p = 0.001; 30 N: r = 0.35, p = 0.002) but not with axial elongation after Bonferroni correction (p > 0.008). No statistically significant relationship was found between temporal retina and myopia progression or axial elongation in both groups. Children with baseline myopic RPR had statistically significant more myopia progression (mean difference around −0.40 D) and more axial elongation (mean difference 0.15 mm) when compared with the children having baseline hyperopic RPR in the DIMS group but not in the SV group. In conclusion, the baseline RPR profile may not influence future myopia progression or axial elongation for the SV lens wearers. However, DIMS lenses slowed down myopia progression and was better in myopia control for the children with baseline hyperopic RPR than the children with myopic RPR. This may partially explain why myopia control effects vary among myopic children. Customised myopic defocus for individuals may optimise myopia control effects, and further research to determine the optimal dosage, with consideration of peripheral retinal profile, is warranted.

Project description:ImportanceMyopia has reached epidemic levels among children in regions of East and Southeast Asia. High myopia is associated with myopic macular degeneration, glaucoma, and retinal detachment.ObjectiveTo determine the incidence of myopia and high myopia based on refraction without cycloplegia among children in primary and junior high schools in China.Design, setting, and participantsThis observational cohort study was completed in Guangzhou, China. It consisted of a cohort from 19 primary schools, who were followed up from 2010 to 2015, and a cohort from 22 junior high schools, who were followed up from 2010 to 2012. All schools were randomly chosen at rates proportional to the number of schools in each of the city's 11 districts. Students with or without myopia in grade 1 (primary school) or grade 7 (junior high school) were eligible for inclusion. Data analysis occurred from February 2017 to October 2017.Main outcomes and measuresMyopia was defined as a spherical equivalent refraction (SER) of -0.50 diopters (D) or less, as measured by subjective refraction without cycloplegia; high myopia was defined as a SER of -6.0 D or less. Annual incidences were defined as the proportion of participants each year found to have myopia or high myopia who did not previously have the condition. Height, weight, axial length (AL), corneal radius of curvature (CRC), and AL/CRC ratio were examined to assess if these measures were associated with future myopia or high myopia.ResultsA total of 4741 students with or without myopia in either grade 1 for the primary school cohort (mean [SD] age 7.2 [0.4] years; 932 of 1975 [47.2%] female) or grade 7 for the junior high school cohort (mean [SD] age 13.2 [0.5] years; 1254 of 2670 [47.0%] female) were included. Baseline mean (SD) SER was 0.31 (0.86) D among 1975 students in grade 1 vs -1.60 (2.00) D among 2670 students in grade 7. Baseline prevalence of myopia was 12.0% in grade 1 students (n = 237 of 1969) and 67.4% in grade 7 students (n = 1795 of 2663). The incidence of myopia was 20% to 30% each year throughout both cohorts. The incidence of high myopia was initially less than 1% in the primary school cohort (grade 1: n = 2 of 1825; 0.1% [95% CI, 0.0%-0.3%]), but incidence exceeded 2% in the junior high school cohort (in grade 9: n = 48 of 2044; 2.3% [95% CI, 1.0%-3.7%]).Conclusions and relevanceThe incidence of myopia among Chinese students based on refraction without cycloplegia is among the highest of any cultural or ethnic group. If confirmed with cycloplegic refraction, interventions to prevent myopia onset in Chinese populations should be initiated in primary schools.

Dataset Information

INVOLVEMENT OF MULTIPLE MOLECULAR PATHWAYS IN THE GENETICS OF OCULAR REFRACTION AND MYOPIA.

Publications

INVOLVEMENT OF MULTIPLE MOLECULAR PATHWAYS IN THE GENETICS OF OCULAR REFRACTION AND MYOPIA.

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