ArticleJournal of translational medicine2024
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Article in Journal of translational medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 15 citations in OpenAlex.
- Selective i-wave attenuation in unilateral high myopia.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Anisometropia and Its Related Traits: Ocular, Systemic, and Genetic Characteristics-Results From the Gutenberg Health Study.Investigative ophthalmology & visual science · 2026Article
- Study of circulating MiRNA expression in myopic patients.International ophthalmology · 2026Article
- Clinical and Genetic Characteristics of a Chinese Occult Maculopathy Cohort.Translational vision science & technology · 2026Article
- The Changing Natural History of Anisometropia: A Scoping Review.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2026Article
- Axial Length as a Key Risk Factor for Lattice Degeneration: A Large-Sample Retrospective Analysis.Healthcare (Basel, Switzerland) · 2026Article
- Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.Investigative ophthalmology & visual science · 2026Review
- Integrated analysis of the aqueous humor microbiome and lens capsule transcriptome in high myopia cataract: a pilot study.Frontiers in medicine · 2026Article
- Preoperative and postoperative risk factors for persistent dry eye after corneal refractive surgery in ultra-high myopia: a retrospective cohort study.American journal of translational research · 2026Article
- Interocular asymmetry and ocular biometric patterns in pediatric high myopia: implications for early risk stratification.Frontiers in medicine · 2026Article
- Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.Investigative ophthalmology & visual science · 2025Article
- Genetic influences on intergenerational refractive error shifts and extreme myopia.The British journal of ophthalmology · 2025Article
- Article
- Cassia polysaccharides can regulate the effect of low PAX6 expression on the function of ARPE-19 cells through the Wnt/β-catenin pathway.Molecular vision · 2025Article
- Hypoxia and growth factor profiling in high myopia: linking HIF-1α suppression and PDGF-BB activation to structural degeneration.Frontiers in medicine · 2025Article
- Thinning Choroidal Thickness and Flattening Morphology of Higher Myopia Eyes in Chinese Adults with Anisometropic Myopia: A Comparative Study.Clinical ophthalmology (Auckland, N.Z.) · 2025Article
- Uncovering predictors of myopia in youth: a secondary data analysis using a machine learning approach.Frontiers in medicine · 2025Article
- Glutathione and a Pool of Metabolites Partly Related to Oxidative Stress Are Associated with Low and High Myopia in an Altered Bioenergetic Environment.Antioxidants (Basel, Switzerland) · 2024Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundsUnilateral high myopia (uHM), commonly observed in patients with retinal diseases or only with high myopia, is frequently associated with amblyopia with poor prognosis. This study aims to reveal the clinical and genetic spectrum of uHM in a large Chinese cohort.
methodsA total of 75 probands with simplex uHM were included in our Pediatric and Genetic Eye Clinic. Patients with significant posterior anomalies other than myopic fundus changes were excluded. Variants were detected by exome sequencing and then analyzed through multiple-step bioinformatic and co-segregation analysis and finally confirmed by Sanger sequencing. Genetic findings were correlated with associated clinical data for analysis.
resultsAmong the 75 probands with a mean age of 6.21 ± 4.70 years at the presentation, myopic fundus of C1 and C2 was observed in 73 (97.3%) probands. Surprisingly, specific peripheral changes were identified in 63 eyes involving 36 (48.0%) probands after extensive examination, including peripheral retinal avascular zone (74.6%, 47/63 eyes), neovascularization (54.0%), fluorescein leakage (31.7%), peripheral pigmentary changes (31.7%), and others. Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome (COL11A1 and COL2A1; 6/20), FEVR (FZD4, LRP5, and TSPAN12; 5/20), and others (FBN1, GPR179, ZEB2, PAX6, GPR143, OPN1LW, FRMD7, and CACNA1F; 9/20). For the peripheral retinal changes in the 20 probands, variants in Stickler syndrome-related genes were predominantly associated with retinal pigmentary changes, lattice degeneration, and retinal avascular region, while variants in genes related to FEVR were mainly associated with the avascular zone, neovascularization, and fluorescein leakage.
conclusionsGenetic defects were identified in about one-fourth of simplex uHM patients in which significant consequences may be hidden under a classic myopic fundus in up to half. To our knowledge, this is the first systematic genetic study on simplex uHM to date. In addition to routine care of strabismus and amblyopia, careful examination of the peripheral retina and genetic screening is warranted for patients with uHM in order to identify signs of risk for retinal detachment and other complications and provide meaningful genetic counseling.
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