ArticleEye (London, England)2022
Stickler syndrome - lessons from a national cohort.
Article in Eye (London, England), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis 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
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 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
- Postoperative Corneal Dellen Following PreserFlo MicroShunt: A Case Report.The American journal of case reports · 2026Article
- Integrated genetic identification and molecular dynamics simulations in a novelFrontiers in genetics · 2026Article
- Pathologic myopia as a concurrent condition in Pierre Robin sequence: a case report and literature review.Frontiers in medicine · 2026Article
- Connecting the dots: the role of genetics in posterior vitreous detachment.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025Review
- Characteristics of Hearing Loss in Patients withIndian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2025Article
- Hereditary Vitreoretinopathies: Molecular Diagnosis, Clinical Presentation and Management.Clinical & experimental ophthalmology · 2025Review
- Retinal detachment in Type IX collagen recessive Stickler syndrome.Eye (London, England) · 2025Article
- Outcomes of rhegmatogenous retinal detachment surgery in patients with Stickler syndrome.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- Clinician Awareness of Stickler Syndromes Among Australian Allied Health Care Professionals.Journal of multidisciplinary healthcare · 2024Article
- A patient with concurrent Axenfeld-Rieger and Stickler syndromes verified by molecular genetics.American journal of ophthalmology case reports · 2023Article
- Axial length shortening in myopic children with Stickler syndrome after repeated low-level red-light therapy.International journal of ophthalmology · 2023Article
- Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations inFrontiers in genetics · 2023Article
- Quality of Life in Children and Adolescents with Stickler Syndrome in Spain.Children (Basel, Switzerland) · 2022Article
- Dominant Stickler Syndrome.Genes · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In 2011 NHS England commissioned a new national specialist MDT service for patients and families affected by Stickler syndrome. The Stickler syndromes form part of the spectrum of inherited vitreoretinopathies and are the most common cause of retinal detachment in childhood and the most common cause of familial retinal detachment. Now in its 10th year, the Stickler Highly Specialised Service (HSS) has assessed 1673 patients from 785 families. Using a combination of accurate phenotyping and molecular genetic analysis it is possible to identify the underlying genetic mutation in over 95% of cases including those with deep intronic mutations likely to be missed by conventional exome panel analysis and which require whole gene sequencing and supplementary functional analysis to confirm pathogenicity. The vast majority that presents to ophthalmologists will be from one of three autosomal dominant sub-groups with a high associated risk of retinal detachment but the diagnosis is often overlooked, especially in adults. In contrast to many other blinding retinal conditions, blindness through giant retinal tear detachment particularly in children is largely preventable provided these high-risk groups are identified and appropriate evidence-based prophylaxis offered. This article summarises ten selected briefcase histories from the national dataset with key learning points from each.
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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.