ReviewEye (London, England)2019
Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing.
Review in Eye (London, England), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 36 citations in OpenAlex.
- Integrative analytical and statistical framework for optimization of multiplex qPCR detection ofJournal of Zhejiang University. Science. B · 2026Article
- CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies.Investigative ophthalmology & visual science · 2026Article
- Article
- Article
- Peptide Nucleic Acid-Mediated Regulation of CRISPR-Cas9 Specificity.Nucleic acid therapeutics · 2024Article
- Release of frustration drives corneal amyloid disaggregation by brain chaperone.Communications biology · 2023Article
- Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.International journal of molecular sciences · 2023Article
- Autophagy in the normal and diseased cornea.Experimental eye research · 2022Review
- Corneal irregularity and visual function using anterior segment optical coherence tomography in TGFBI corneal dystrophy.Scientific reports · 2022Article
- Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree.International journal of ophthalmology · 2022Article
- The observation of anterior segment in children with an R124L mutation corneal dystrophy by anterior segment optical coherence tomography and in vivo confocal microscopy.Frontiers in medicine · 2022Article
- Molecular characteristics and spatial distribution of adult human corneal cell subtypes.Scientific reports · 2021Article
- Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes.International journal of molecular sciences · 2021Article
- Deterioration of Avellino corneal dystrophy in a Chinese family after LASIK.International journal of ophthalmology · 2021Article
- Prevalence of granular corneal dystrophy type 2-relatedMolecular vision · 2021Article
- Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.Frontiers in cell and developmental biology · 2021Article
- Corneal dystrophies.Nature reviews. Disease primers · 2020Review
- Further evaluation of differential expression of keratoconus candidate genes in human corneas.PeerJ · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To date, 70 different TGFBI mutations that cause epithelial-stromal corneal dystrophies have been described. At present one commercially available test examines for the five most common of these mutations: R124H, R124C, R124L, R555W, and R555Q. To expand the capability of identifying the causative mutation in the remaining cases, 57 mutations would need to be added. The aim of this study was to obtain a better understanding of the worldwide distribution and population differences of TGFBI mutations and to assess which mutations could be included or excluded from any potential assay. A total of 184 published papers in Human Gene Mutation Database (HGMD) and PubMed from 34 countries worldwide reporting over 1600 corneal dystrophy cases were reviewed. Global data from 600,000 samples using the commercially available test were analyzed. Case studies by University College of London (UCL), Moorfield's Corneal Dystrophy Study data and 19 samples from patients with clinical abnormality or uncertainty for which the current test detected no mutation were used to predict an achievable detection rate. Data from the literature search showed no difference in the spectrum and frequency of each mutation in different populations or geographical locations. According to our analysis, an increase to the worldwide detection rate in all populations from 75 to 90% could be achieved by the addition of six mutations-H626R, A546D, H572R, G623D, R124S, and M502V-to the currently available test and that may be beneficial for LASIK pre-screening worldwide.
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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.