ArticleMolecular vision2018
Phenotypic characterization of patients with early-onset high myopia due to mutations in
Article in Molecular vision, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
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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
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- Relative Risk of Retinal Detachment in COL2A1 Compared with COL11A1 Stickler Syndrome: An Individual Patient Data Meta-Analysis.Ophthalmology. Retina · 2026Pooled it
- Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.BMC medical genetics · 2020Pooled it
- A simple questionnaire to prevent blindness: a cross-sectional study screening for Stickler syndrome in children.Rheumatology (Oxford, England) · 2026Article
- Axial length, myopia progression, and myopic maculopathy in Stickler syndrome.Acta ophthalmologica · 2026Article
- Mutation Screening ofGenes · 2026Article
- Exploring genotype-phenotype correlations in pathological myopia: a case report.Frontiers in medicine · 2025Article
- New perspectives on DNA methylation modifications in ocular diseases.International journal of ophthalmology · 2025Review
- Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia.Investigative ophthalmology & visual science · 2024Article
- Genetic and clinical landscape ofThe British journal of ophthalmology · 2023Article
- Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.Investigative ophthalmology & visual science · 2023Article
- The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.Investigative ophthalmology & visual science · 2023Article
- Axial length shortening in myopic children with Stickler syndrome after repeated low-level red-light therapy.International journal of ophthalmology · 2023Article
- Genome sequencing identifies three molecular diagnoses including a mosaic variant in theCold Spring Harbor molecular case studies · 2021Article
- Article
- Controversy and Consideration of Refractive Surgery in Patients with Heritable Disorders of Connective Tissue.Journal of clinical medicine · 2021Review
- Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation.Turkish journal of ophthalmology · 2020Article
- Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy.EMBO molecular medicine · 2020Article
- Spectrum, frequency, and genotype-phenotype of mutations inMolecular vision · 2019Article
- Update on Myopia Risk Factors and Microenvironmental Changes.Journal of ophthalmology · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Our previous study reported that 5.5% of probands with early-onset high myopia (eoHM) had mutations in Methods: Probands and family members with eoHM and mutations in Results: Twelve probands (8.91±4.03 years) and 14 affected family members (37.00±11.18 years) with eoHM and mutations in Conclusions: In summary, it is not easy to differentiate STL from eoHM with routine ocular examination in outpatient clinics. Awareness of atypical phenotypes and newly recognized signs may be of help in identifying atypical STL, especially in children at eye clinics.
Indexed as
Identifiers
30181686PMC6089037W2950056123What 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.