Observational studyHuman molecular genetics2022
Whole exome sequencing of known eye genes reveals genetic causes for high myopia.
Observational study in Human molecular genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 40 citations in OpenAlex.
- Aetiology, characteristics and workup of early onset high myopia.The British journal of ophthalmology · 2026Article
- Analysis of gene mutation spectrum for early-onset high myopia based on whole-exome sequencing.The British journal of ophthalmology · 2026Article
- Mutation Screening ofGenes · 2026Article
- Article
- Multilevel Genetic and Functional Assessment of an ARR3 Frameshift Variant in Early-Onset High Myopia.International journal of genomics · 2026Article
- Review
- Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.Investigative ophthalmology & visual science · 2025Article
- IMI-Myopia Genetics Report.Investigative ophthalmology & visual science · 2025Review
- Genetic influences on intergenerational refractive error shifts and extreme myopia.The British journal of ophthalmology · 2025Article
- Article
- Early Peripapillary Choroidal Thinning during Myopia Development: A Potential Biomarker for Progressive Myopia Identified in Tree Shrews.Investigative ophthalmology & visual science · 2025Article
- Perspectives on Genetic and Environmental Factors in Myopia, Its Prediction, and the Future Direction of Research.Investigative ophthalmology & visual science · 2025Review
- Myopia is predominantly genetic or predominantly environmental?Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2025Article
- Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network.Frontiers in genetics · 2025Article
- Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.Human genetics · 2024Article
- Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia.Investigative ophthalmology & visual science · 2024Article
- Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.Investigative ophthalmology & visual science · 2024Observational
- Genetic background of high myopia in children.PloS one · 2024Article
- Exploring the Research Landscape of High Myopia: Trends, Contributors, and Key Areas of Focus.Medical science monitor : international medical journal of experimental and clinical research · 2023Article
- Whole-Exome Sequencing Among School-Aged Children With High Myopia.JAMA network open · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
High myopia [refractive error ≤ -6 diopters (D)] is a heterogeneous condition, and without clear accompanying features, it can be difficult to pinpoint a genetic cause. This observational study aimed to evaluate the utility of whole exome sequencing (WES) using an eye disorder gene panel in European patients with high myopia. Patients with high myopia were recruited by ophthalmologists and clinical geneticists. Clinical features were categorized into isolated high myopia, high myopia with other ocular involvement or with systemic involvement. WES was performed and an eye disorder gene panel of ~500 genes was evaluated. Hundred and thirteen patients with high myopia [mean (SD) refractive error - 11.8D (5.2)] were included. Of these, 53% were children younger than 12 years of age (53%), 13.3% were aged 12-18 years and 34% were adults (aged > 18 years). Twenty-three out of 113 patients (20%) received a genetic diagnosis of which 11 patients displayed additional ocular or systemic involvement. Pathogenic variants were identified in retinal dystrophy genes (e.g. GUCY2D and CACNA1F), connective tissue disease genes (e.g. COL18A1 and COL2A1), non-syndromic high myopia genes (ARR3), ocular development genes (e.g. PAX6) and other genes (ASPH and CNNM4). In 20% of our high myopic study population, WES using an eye gene panel enabled us to diagnose the genetic cause for this disorder. Eye genes known to cause retinal dystrophy, developmental or syndromic disorders can cause high myopia without apparent clinical features of other pathology.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.