ArticleJAMA network open2023
Whole-Exome Sequencing Among School-Aged Children With High Myopia.
Article in JAMA network open, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 14 citations in OpenAlex.
- Analysis of gene mutation spectrum for early-onset high myopia based on whole-exome sequencing.The British journal of ophthalmology · 2026Article
- Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders.BMC medical genomics · 2026Article
- Genome-wide association study reveals genetic architecture and evolution of human retinal pigmentation.Science advances · 2026Article
- Multilevel Genetic and Functional Assessment of an ARR3 Frameshift Variant in Early-Onset High Myopia.International journal of genomics · 2026Article
- Lifestyle and environmental risk factors for myopia in children: Evidence from a large-scale cross-sectional study in Shandong, China.PloS one · 2026Article
- Clinical features of early-onset high myopia in Chinese children: attention to comorbidities.BMC ophthalmology · 2025Observational
- IMI-Myopia Genetics Report.Investigative ophthalmology & visual science · 2025Review
- Associations between RetNet gene polymorphisms and the efficacy of orthokeratology for myopia control: a retrospective clinical study.Eye and vision (London, England) · 2025Article
- Article
- The Impact of School Education on High Myopia in Children and Adolescents.International journal of general medicine · 2025Article
- Exome-wide genetic risk score (ExGRS) to predict high myopia across multi-ancestry populations.Communications medicine · 2024Article
- Myopia in Children: Epidemiology, Genetics, and Emerging Therapies for Treatment and Prevention.Children (Basel, Switzerland) · 2024Review
- Diurnal gene expression patterns in retina and choroid distinguish myopia progression from myopia onset.PloS one · 2024Article
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Importance: High myopia (HM) is one of the leading causes of visual impairment worldwide. Genetic factors are known to play an important role in the development of HM. Objective: To identify risk variants in a large HM cohort and to examine the implications of genetic testing of schoolchildren with HM. Design, Setting, and Participants: This cohort study retrospectively reviewed whole-exome sequencing (WES) results in 6215 schoolchildren with HM who underwent genetic testing between September 2019 and July 2020 in Wenzhou City, China. HM is defined as a spherical equivalent refraction (SER) of -6.00 diopters (D) or less. The study setting was a genetic testing laboratory and a multicenter school census. Data were analyzed from July 2021 to June 2022. Main Outcomes and Measures: The frequency and distribution of positive germline variants, the percentage of individuals with HM in both eyes, and subsequent variant yield for common high myopia (CHM; -8.00 D ≤ SER ≤ -6.00 D), ultra myopia (UM; -10.00 D ≤ SER < -8.00 D), and extreme myopia (EM; SER < -10.00 D). Results: Of the 6215 schoolchildren with HM, 3278 (52.74%) were male. Their mean (SD) age was 14.87 (2.02) years, including 355 students in primary school, 1970 in junior high school, and 3890 in senior high school. The mean (SD) SER was -7.51 (-1.36) D for the right eye and -7.46 (-1.34) D for the left eye. Among schoolchildren with HM, genetic testing yielded 271 potential pathogenic variants in 75 HM candidate genes in 964 diagnoses (15.52%). A total of 36 known variants were found in 490 HM participants (7.88%) and 235 protein-truncating variants (PTVs) in 506 participants (8.14%). Involved variant yield was significantly positively associated with SER (Cochran-Armitage test for trend Z = 2.5492; P = .01), which ranged from 7.66% in the CHM group, 8.70% in the UM group, to 11.90% in the EM group. We also found that primary school students with EM had the highest variant yield of PTVs (8 of 35 students [22.86%]), which was 1.77 and 4.78 times that of the UM and CHM, respectively. Conclusions and Relevance: In this cohort study of WES for HM, several potential pathogenic variants were identified in a substantial number of schoolchildren with HM. The high variation frequency in younger students with EM can provide clues for genetic screening and clinical examinations of HM to promote long-term follow-up assessment.
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