ReviewJournal of personalized medicine2020
Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.
Review in Journal of personalized medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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
51 citing papers in PubMed, 93 citations in OpenAlex.
- Review
- Outcomes of surgical intervention in retinal detachment in stickler syndrome: a systematic review and meta analysis.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Review
- A simple questionnaire to prevent blindness: a cross-sectional study screening for Stickler syndrome in children.Rheumatology (Oxford, England) · 2026Article
- Diagnosis of rare diseases based on facial phenotype: a quantitative assessment using 2D and 3D photography in Stickler syndrome.Orphanet journal of rare diseases · 2026Article
- Subterranean Traits of the Visual System in Mandarin Voles (Lasiopodomys mandarinus): Structural Remodeling and Functional Degeneration.Integrative zoology · 2026Article
- Retinal detachment in patients with Sticklers syndrome: A comprehensive analysis for craniofacial surgeons.JPRAS open · 2026Article
- Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.The American journal of case reports · 2026Article
- Rare heterozygous missense variants in VSX2 are associated with retinal detachment.PLoS genetics · 2026Article
- Pathologic myopia as a concurrent condition in Pierre Robin sequence: a case report and literature review.Frontiers in medicine · 2026Article
- Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families.Frontiers in genetics · 2026Article
- Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.PloS one · 2026Article
- Article
- Integrated genetic identification and molecular dynamics simulations in a novelFrontiers in genetics · 2026Article
- Current Ear and Hearing Care Practices for Infants and Toddlers with Cleft Palate in the United States.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025Observational
- Review
- Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.Genes · 2025Review
- A review of rhegmatogenous retinal detachment: past, present and future.Wiener medizinische Wochenschrift (1946) · 2025Review
- Hereditary Vitreoretinopathies: Molecular Diagnosis, Clinical Presentation and Management.Clinical & experimental ophthalmology · 2025Review
- Expert consensus on classification and diagnosis of congenital orofacial cleft.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2025Article
- Mutation of beta-tubulin 4B gene (Molecular vision · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Stickler Syndrome (SS) is a multisystem collagenopathy frequently encountered by ophthalmologists due to the high rate of ocular complications. Affected individuals are at significantly increased risk for retinal detachment and blindness, and early detection and diagnosis are critical in improving visual outcomes for these patients. Systemic findings are also common, with craniofacial, skeletal, and auditory systems often involved. SS is genotypically and phenotypically heterogenous, which can make recognizing and correctly diagnosing individuals difficult. Molecular genetic testing should be considered in all individuals with suspected SS, as diagnosis not only assists in treatment and management of the patient but may also help identify other at-risk family members. Here we review common clinical manifestation of SS and genetic tests frequently ordered as part of the SS evaluation.
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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.