ReviewProgress in retinal and eye research2021
TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease.
Review in Progress in retinal and eye research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 4 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
77 citing papers in PubMed, 4 syntheses or guidelines pooled it, 139 citations in OpenAlex.
- Genome-Wide Association Study of Corneal Dystrophy Uncovers Novel Risk Loci and Enables Improved Polygenic Prediction of Fuchs Endothelial Corneal Dystrophy.Investigative ophthalmology & visual science · 2026Pooled it
- Current Applications of Artificial Intelligence for Fuchs Endothelial Corneal Dystrophy: A Systematic Review.Translational vision science & technology · 2025Pooled it
- A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation.Communications biology · 2024Pooled it
- Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.Frontiers in medicine · 2023Pooled it
- Association between subjective symptoms and severity in patients with Fuchs endothelial corneal dystrophy.Japanese journal of ophthalmology · 2026Observational
- Tissue-level heterogeneity in FECD: Descemet's membrane phenotypes and association with TCF4 CTG18.1 expansionThe Journal of pathology · 2026Article
- Corneal Endothelial Progenitors for Ocular Regeneration: Translating Discovery into Clinical Therapies.International journal of molecular sciences · 2026Review
- Genetic Analysis of Pitt-Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene.Molecular genetics & genomic medicine · 2026Article
- Corneal Remodeling After DMEK in Fuchs Endothelial Dystrophy Patients: Quantitative and Qualitative Changes.Life (Basel, Switzerland) · 2026Article
- High expression of the underexplored SLC4A11 protein-coding transcript is specific to the corneal endothelium.Scientific reports · 2026Article
- Structure-based virtual screening identifies VX-809 as a candidate dual-pathway modulator in fuchs endothelial corneal dystrophy.Scientific reports · 2026Article
- Morphological Distinction of Descemet's Membrane Protrusions in Bullous Keratopathy and Guttae in Fuchs Endothelial Corneal Dystrophy.Investigative ophthalmology & visual science · 2026Article
- Association Between Self-Reported Smoking Behaviour and Fuchs Endothelial Corneal Dystrophy: A Cross-Sectional Analysis.AJO international · 2026Article
- TCF4 trinucleotide repeat expansion drives distinct proteomic signatures in Fuchs endothelial corneal dystrophy.Scientific reports · 2026Article
- Targeted AAV6 gene therapy restores corneal endothelial function in three hereditary corneal dystrophies.Cell reports. Medicine · 2026Article
- Enhanced mitochondria-associated membrane formation in Fuchs endothelial corneal dystrophy: a novel link between endoplasmic reticulum stress and mitochondrial dysfunction.Japanese journal of ophthalmology · 2026Article
- Genome-wide association study of corneal dystrophy uncovers novel risk loci and enables improved polygenic prediction of Fuchs endothelial corneal dystrophy.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Longitudinal Study ofMedical sciences (Basel, Switzerland) · 2026Article
- Clinical characteristics and risk factors for corneal guttae in Japanese cataract patients.Japanese journal of ophthalmology · 2026Observational
17 more citing papers are in PubMed but not listed here.
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 2 countries.
Funding
Abstract
Fuchs endothelial corneal dystrophy (FECD) is a common cause for heritable visual loss in the elderly. Since the first description of an association between FECD and common polymorphisms situated within the transcription factor 4 (TCF4) gene, genetic and molecular studies have implicated an intronic CTG trinucleotide repeat (CTG18.1) expansion as a causal variant in the majority of FECD patients. To date, several non-mutually exclusive mechanisms have been proposed that drive and/or exacerbate the onset of disease. These mechanisms include (i) TCF4 dysregulation; (ii) toxic gain-of-function from TCF4 repeat-containing RNA; (iii) toxic gain-of-function from repeat-associated non-AUG dependent (RAN) translation; and (iv) somatic instability of CTG18.1. However, the relative contribution of these proposed mechanisms in disease pathogenesis is currently unknown. In this review, we summarise research implicating the repeat expansion in disease pathogenesis, define the phenotype-genotype correlations between FECD and CTG18.1 expansion, and provide an update on research tools that are available to study FECD as a trinucleotide repeat expansion disease. Furthermore, ongoing international research efforts to develop novel CTG18.1 expansion-mediated FECD therapeutics are highlighted and we provide a forward-thinking perspective on key unanswered questions that remain in the field.
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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.