A distrofia endotelial da córnea de Fuchs (FECD) é a forma mais frequente de distrofia corneana posterior e é caracterizada por excrescências na membrana espessada de Descemet (guta corneana), edema corneano generalizado, com diminuição gradual da acuidade visual.
Introdução
O que você precisa saber de cara
A distrofia endotelial de Fuchs é uma condição que causa problemas de visão. O primeiro sintoma dessa condição costuma ser visão embaçada pela manhã, que geralmente clareia ao longo do dia. Com o tempo, as pessoas afetadas perdem a capacidade de ver detalhes (acuidade visual). Pessoas com distrofia endotelial de Fuchs também se tornam sensíveis a luzes brilhantes.
A distrofia endotelial de Fuchs afeta especificamente a superfície frontal do olho chamada córnea. Depósitos chamados guttae, que podem ser detectados durante um exame ocular, se formam no meio da córnea e eventualmente se espalham por toda a córnea. Esses guttae contribuem para a morte celular contínua dentro da córnea, levando ao agravamento dos problemas de visão. Pequenas bolhas podem se desenvolver na córnea, as quais podem romper-se e causar dor ocular.
Os sinais e sintomas da distrofia endotelial de Fuchs geralmente começam nos quarenta ou cinquenta anos de idade de uma pessoa. Uma variante de início muito precoce e rara dessa condição começa a afetar a visão na casa dos vinte anos.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoA distrofia endotelial da córnea de Fuchs (FECD) é a forma mais frequente de distrofia corneana posterior e é caracterizada por excrescências na membrana espessada de Descemet (guta corneana), edema corneano generalizado, com diminuição gradual da acuidade visual.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 16 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Multigenic/multifactorial, Not applicable.
Corneal dystrophy, Fuchs endothelial, 1
A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
Corneal dystrophy, posterior polymorphous, 3
A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic.
Corneal dystrophy, Fuchs endothelial, 8
A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
Corneal dystrophy and perceptive deafness
An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss.
Pitt-Hopkins syndrome
A syndrome characterized by intellectual disability, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities.
Variantes genéticas (ClinVar)
744 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
11 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Distrofia corneana, endotelial de Fuchs
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Com ensaio aberto em 15 países. O ponto verde marca onde há vaga agora.
🟢 Recrutando agora
23 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
92 ensaios clínicos encontrados, 27 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 755
Targeted AAV6 gene therapy restores corneal endothelial function in three hereditary corneal dystrophies.
The corneal endothelium maintains corneal transparency and vision. Hereditary corneal dystrophies, including macular corneal dystrophy (MCD), Fuchs endothelial corneal dystrophy (FECD), and congenital hereditary endothelial dystrophy (CHED), cause progressive endothelial dysfunction, for which corneal transplantation is currently the main treatment. We evaluate an adeno-associated virus (AAV)-based gene therapy approach in preclinical models of MCD, FECD, and CHED. A refined intracameral injection method enables uniform endothelial transduction without corneal puncture. A single AAV6 administration supports sustained transgene expression in the corneal endothelium for over 18 months without detectable adverse immune responses. In MCD mice, AAV6-Chst5 reduces corneal opacification and restores keratan sulfate levels. In FECD mice, AAV6-Col8a2 prevents corneal opacity in 87.5% of treated eyes. In the CHED model, AAV6-Slc4a11 resolves corneal edema within 7 days. Single-cell RNA sequencing identifies Wnt5a as a downstream factor associated with MCD pathogenesis. These findings support the therapeutic potential of endothelial-targeted gene delivery for corneal endothelial disorders.
Genome-wide association study of corneal dystrophy uncovers novel risk loci and enables improved polygenic prediction of Fuchs endothelial corneal dystrophy.
To identify risk loci for Fuchs endothelial corneal dystrophy (FECD) and improve a genetic risk prediction model. Genome-wide association study (GWAS), polygenic risk score (PRS) construction, and TCF4 CTG18.1 short tandem repeat (STR) length inference. The study included 7,316 Europeans (EUR) with FECD or related corneal dystrophy phenotypes and 1,588,467 controls from the UK Biobank, All of Us, FinnGen, and the Million Veteran Program. Two independent EUR FECD cohorts were used for PRS validation (1,851/2,679 cases/controls and 124/257 cases/controls). African (AFR) ancestry analyses included 455 cases and 121,154 controls to build PRS. A subset of All of Us participants was used for joint PRS and STR modelling. GWAS meta-analyses were performed using FECD diagnoses or corneal dystrophy proxies where necessary, with validity assessed via genetic correlation. Risk loci were identified, and ancestry-specific PRSs were constructed using SBayesRC. PRS performance was evaluated across ancestries with and without TCF4 STR data. We identified novel loci for corneal dystrophy and constructed PRS-based and STR-based prediction models. The GWAS meta-analysis identified 24 risk loci associated with corneal dystrophy, including 12 novel loci, doubling previous FECD studies. The optimised PRS outperformed existing models in two independent FECD validation cohorts (AUC = 0.83, 95% CI: 0.82-0.84; DeLong's P = 7.04 × 10-19), with individuals in the top PRS decile showing 14-fold and 19-fold increased risk in the two validation sets, respectivelyIn All of Us, STR expansion (>40 repeats) was the key predictor of FECD risk, yielding excellent discrimination (AUC = 0.89; OR = 54) with minimal improvement from PRS. Consistent with this, STR expansion remained the primary driver of risk across ancestries, while PRS provided modest independent value for broader corneal dystrophy phenotypes in EUR and admixed American populations.Among participants without large STR expansion, overall predictive performance was modest; PRS was the only significant genetic contributor (OR = 1.37) for broader corneal dystrophy in Europeans, whereas analyses in FECD non-expansion carriers were underpowered. These findings refine the genetic architecture of FECD, enhance risk prediction, and support a tiered strategy integrating STR expansion testing with PRS.
Fuchs Endothelial Corneal Dystrophy: A Post Hoc Analysis of the Women's Health Initiative Randomized Hormone Therapy Clinical Trials.
This post hoc secondary analysis of the Women’s Health Initiative study assesses whether randomization to hormone therapy use was associated with subsequent incident Fuchs endothelial corneal dystrophy.
Taurochenodeoxycholic Acid Activates Calcium Signaling to Protect Against Fuchs' Endothelial Corneal Dystrophy.
Fuchs' endothelial corneal dystrophy (FECD) is the leading cause of corneal endothelial dystrophy. This study aimed to investigate the protective effects and mechanism of taurochenodeoxycholic acid (TCDCA) in FECD. TCDCA levels were quantified in aqueous humor from patients with FECD and ultraviolet A (UVA)-induced FECD mice. Corneal endothelial cell (CEC) morphology and function were evaluated by optical coherence tomography (OCT) and ZO-1 staining following TCDCA treatment. In vitro, UVA-induced human corneal endothelial cells (HCECs) were treated with TCDCA, and cell viability, mitochondrial membrane potential, ATP, and reactive oxygen species (ROS) levels were measured. RNA sequencing (RNA-seq) and quantitative real-time PCR (qRT-PCR) were used to explore molecular mechanisms, and the role of Ca²⁺ signaling was validated using the inhibitor 2-APB in vivo. Analysis of FECD aqueous humor revealed significantly elevated TCDCA levels. In UVA-induced mouse model, TCDCA administration ameliorated corneal endothelial dysfunction, as evidenced by reduced corneal thickness, increased endothelial cell density, and a lower percentage of abnormal cells. Further, in vitro studies revealed a concentration-dependent effect of TCDCA, with 100 µM TCDCA significantly enhancing cell viability, reducing ROS production, restoring mitochondrial membrane potential, and promoting ATP synthesis. RNA-seq and functional studies identified that TCDCA exerts its beneficial effects on corneal endothelial function by activating the calcium signaling pathway. TCDCA demonstrated a protective effect on corneal endothelial cells during the pathogenesis of FECD. Therefore, TCDCA may be a promising novel therapeutic target for attenuating the progression of FECD.
p16-mediated G0/G1 cell cycle arrest leads to SASP and fibrosis in Fuchs endothelial corneal dystrophy.
Fuchs endothelial corneal dystrophy (FECD) is an age-related disorder characterized by excessive extracellular matrix (ECM) deposition and loss of corneal endothelial cells (CEnCs), eventually leading to corneal blindness. Despite known environmental and genetic contributors, the roles of aging and hormonal influences, particularly in the predominantly female population, remain underexplored in FECD. This study investigates the impact of chronic exposure to combined ultra-violet (UV-A) light and the oxidized estrogen metabolite 4-hydroxyestradiol (4-OHE2) on healthy CEnCs, primarily focusing on the cellular senescence pathway implicated in FECD pathogenesis. Our results show that prolonged exposure triggers G0/G1 cell cycle arrest through the p16-pRB pathway, inducing a senescence-mediated pro-secretory phenotype. The senescent cells in G0/G1 phase concurrently upregulated the fibrotic and extracellular matrix (ECM) markers indicating a complex relationship between senescence with fibrosis and ECM deposition. Additionally, multiplex analysis to detect senescence-associated secretory phenotype (SASP) after chronic exposure revealed significant upregulation of pathogenic factors such as IL-8 and IL-17, which were attenuated by SB225002 (anti-CXCR2) and secukinumab (anti-IL-17A). Senolytic cocktail of Dasatinib and Quercetin treatment alleviated fibrosis by selectively eliminating senescent cells and improved the survival of healthy cells. This study introduces a novel in vitro model of FECD, revealing the crucial role of cell cycle modulation, senescence and interleukins in the disease advancement and pathogenesis. The findings suggest that targeting senescence and cytokine-driven inflammation could be a promising therapeutic strategy for mitigating FECD progression.
Publicações recentes
Clinical Outcomes After Ultrathin Descemet Stripping Automated Endothelial Keratoplasty Versus Descemet Membrane Endothelial Keratoplasty for Fuchs Endothelial Corneal Dystrophy: A Systematic Review and Meta-Analysis.
Morphological characteristics of graft-host interface after ultra thin descemet stripping automated endothelial keratoplasty (UT-DSAEK): impact of descemetorhexis technique assessed by in vivo confocal microscopy (IVCM) and anterior segment optical coherence tomography (AS-OCT).
DMEK graft preparation techniques - liquid bubble technique compared to Melles technique.
An Open-Source Deep Learning Framework for Automated Corneal Segmentation in Anterior Segment Optical Coherence Tomography With Cross-Device External Validation.
Tissue-level heterogeneity in FECD: Descemet's membrane phenotypes and association with TCF4 CTG18.1 expansion(†).
📚 EuropePMC450 artigos no totalmostrando 196
[C-Quant scattered light measurement and corneal densitometry in Fuchs endothelial dystrophy before and after DMEK].
Die OphthalmologieTCF4 trinucleotide repeat expansion drives distinct proteomic signatures in Fuchs endothelial corneal dystrophy.
Scientific reportsBeyond keratoplasty: The role of Descemet stripping only in the management of Fuchs endothelial dystrophy-a systematic review and meta-analysis.
Survey of ophthalmologyTargeted AAV6 gene therapy restores corneal endothelial function in three hereditary corneal dystrophies.
Cell reports. MedicineGeneration of a Novel Col8a2P2A-CreERT2 Mouse Line Enables Targeted Genetic Manipulation of Corneal Endothelial Cells and Modeling of Endothelial Decompensation.
Genesis (New York, N.Y. : 2000)Fuchs' Endothelial Corneal Dystrophy and Cardiometabolic Comorbidities.
OphthalmologyTAZ (Wwtr1) deficiency leads to ER stress and mitochondrial dysfunction in a mouse model of Fuchs' endothelial corneal dystrophy.
bioRxiv : the preprint server for biologyPathological classification of Fuchs endothelial corneal dystrophy into several types and their relationships with CTG18.1 expansion repeats.
The Journal of pathologyGenome-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 sciencesAssociation Between Self-Reported Smoking Behaviour and Fuchs Endothelial Corneal Dystrophy: A Cross-Sectional Analysis.
AJO internationalFuchs Endothelial Corneal Dystrophy: A Post Hoc Analysis of the Women's Health Initiative Randomized Hormone Therapy Clinical Trials.
JAMA ophthalmologyDysregulation of Transient Receptor Potential Cation Channels and Epithelial-to-Mesenchymal Transition-Related Genes in Fuchs Endothelial Corneal Dystrophy: A Bioinformatics Approach.
CorneaClinical Predictors of Endothelial Damage in Internationally Transported Donor Corneas.
CorneaRefractive Lensectomy in Patients with Fuchs' Endothelial Dystrophy.
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiTaurochenodeoxycholic Acid Activates Calcium Signaling to Protect Against Fuchs' Endothelial Corneal Dystrophy.
Investigative ophthalmology & visual scienceType VIII collagen: advances in matrix biology and translational promise.
Frontiers in bioengineering and biotechnologyp16-mediated G0/G1 cell cycle arrest leads to SASP and fibrosis in Fuchs endothelial corneal dystrophy.
Cell death & diseaseDifferential expression of transcription factors in moderate and severe Fuchs endothelial corneal dystrophy.
Indian journal of ophthalmologyEarly Transcriptomic and Pathologic Changes of Col8a2 Mutant Fuchs Endothelial Corneal Dystrophy.
Investigative ophthalmology & visual scienceATF4 regulates mitochondrial dysfunction and mitophagy, contributing to corneal endothelial apoptosis.
Scientific reportsThe Prevalence of Fuchs' Endothelial Corneal Dystrophy in Cataract Patients within the Czech Population.
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiLongitudinal Study of TCF4 CTG Trinucleotide Repeat Length and Disease Severity in Fuchs' Endothelial Corneal Dystrophy.
Medical sciences (Basel, Switzerland)Chronic ER Stress Disrupts Mitochondrial-Associated ER Membrane Integrity in Corneal Endothelial Cells.
bioRxiv : the preprint server for biologyProtective Effects of Estradiol on Disease Progression in a Murine Model of Fuchs Endothelial Corneal Dystrophy.
Investigative ophthalmology & visual scienceIntegrated Transcriptomics and Experimental Validation Reveal That Ellagic Acid Alleviates Fuchs Endothelial Corneal Dystrophy via PLAU/NF-κB Signaling.
Investigative ophthalmology & visual scienceCorneal transplantation triple procedures.
Survey of ophthalmologyLong-term outcome of cultured corneal endothelial cell transplantation with descemetorhexis: A 10-year follow-up study.
American journal of ophthalmology case reportsPredictive biomarkers for the prognosis of phacoemulsification and posterior chamber intraocular lens implantation in Fuchs endothelial corneal dystrophy.
BMC ophthalmologyArtificial Intelligence Application in Cornea and External Diseases.
Diagnostics (Basel, Switzerland)Tobacco Exposure and Risk of Developing Fuchs Endothelial Corneal Dystrophy in the Women's Health Initiative Studies.
Ophthalmology scienceMitochondria in corneal physiology and pathology: A mechanistic perspective.
Progress in retinal and eye researchThe diagnostic potential of aqueous humor: Unlocking ocular and systemic insights.
Survey of ophthalmologyPreoperative and perioperative factors that predict endothelial cell loss 1 year after uncomplicated Descemet membrane endothelial keratoplasty.
PloS oneDetection of subclinical corneal edema in fuchs' dystrophy using galilei tomography.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieBiomarker driven drug repurposing for Fuchs' endothelial corneal dystrophy (FECD): a computational study.
In silico pharmacologyMolecular Studies of TCF4 Gene and Correlation with Late-Onset Fuchs Endothelial Corneal Dystrophy in the Greek Population: A Novel Cost-Effective Diagnostic Algorithm.
International journal of molecular sciencesBiallelic excision of the CTG18.1 expansion in two Fuchs endothelial corneal dystrophy-derived iPSC lines and one control (SCTCi046-A-1, SCTCi047-A-1 and SCTCi041-A-1) using an episomal vector-based CRISPR/Cas9 approach.
Stem cell researchDeep learning-assisted widefield endothelial imaging in Descemet membrane endothelial keratoplasty.
Frontiers in medicineBlockade of mitochondrial components release by exosome pathway promotes the pathogenesis of Fuchs endothelial corneal dystrophy.
Cell death discoveryRisk factors for corneal transplantation in Fuchs endothelial corneal dystrophy from a large Thai cohort.
Scientific reportsTranscriptome analyses of human corneal endothelial cell lines derived from patients with Fuchs endothelial corneal dystrophy.
Scientific reportsPathological mechanism in Fuchs endothelial corneal dystrophy and myotonic dystrophy type 1: more than meets the eye.
Progress in retinal and eye researchEmerging Innovations in the Treatment of Fuchs Endothelial Corneal Dystrophy: A Narrative Review.
Medical sciences (Basel, Switzerland)Decreased substrate stiffness leads to mitochondrial dysfunctions and Endothelial to Mesenchymal transition through Focal Adhesion Kinase activity in corneal endothelial cells.
bioRxiv : the preprint server for biology[Endothelial dystrophies and degenerations of the cornea].
Klinische Monatsblatter fur AugenheilkundeTomographic Differences in Thin Corneas Following DMEK in Fuchs Dystrophy: A Case-Control Study.
Ophthalmology and therapyDiurnal Variation in Corneal Stromal and Epithelial Thickness in Fuchs Endothelial Corneal Dystrophy: With and Without Intensified Hypertonic Saline Eyedrop Application.
CorneaPermanent Senescence Via p16 Leads to Guttae Formation in an In Vitro Human Corneal Endothelial Cell Model.
Investigative ophthalmology & visual scienceTranscription factor 4 and Fuchs' endothelial corneal dystrophy (FECD) association: Perspectives for novel targeted therapeutics.
Eye (London, England)Genetic Therapy of Fuchs Endothelial Corneal Dystrophy: Where Are We? A Review.
GenesDeep Learning Analysis of Widefield Cornea Endothelial Imaging in Fuchs Dystrophy.
Ophthalmology scienceSelf-supervised learning and hybrid deep models for predicting the progression of Fuchs' endothelial corneal dystrophy after cataract surgery.
Computer methods and programs in biomedicineEndothelial Cell Loss 1 Year After Successful DMEK in the Diabetes Endothelial Keratoplasty Study: A Randomized Clinical Trial.
JAMA ophthalmologyDonor Diabetes and 1-Year Descemet Membrane Endothelial Keratoplasty Success Rate: A Randomized Clinical Trial.
JAMA ophthalmologyEnhanced mitochondria-associated membrane formation in Fuchs endothelial corneal dystrophy: a novel link between endoplasmic reticulum stress and mitochondrial dysfunction.
Japanese journal of ophthalmologyExploring the histopathological signature of repeat-mediated Fuchs endothelial corneal dystrophy.
Acta ophthalmologicaVision and Quality of Life in Fuchs' Endothelial Dystrophy Using a Prototype Aberrometer: A Cross-Sectional Study.
Clinical ophthalmology (Auckland, N.Z.)Influence of Graft Unfolding Time During Descemet Membrane Endothelial Keratoplasty on Postoperative Endothelial Cell Loss and Visual Acuity.
CorneaFuchs Endothelial Corneal Dystrophy Associations with Systemic Disease, Lifestyle, and Nutritional Intake.
Ophthalmology scienceTreatment Outcomes of Upside-Down Descemet Membrane Endothelial Keratoplasty.
Journal of clinical medicineEnabling In Vivo Longitudinal Evaluation of Descemet's Membrane Thickness in Wild-type and FECD Mice Using Self-Referenced Optical Coherence Microscopy.
Investigative ophthalmology & visual scienceCorneal endothelial cells decline - A review of recent findings from molecular and clinical research.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieTranscriptomic analysis implicates the involvement of RBM20 in Fuchs' endothelial corneal dystrophy with TCF4 repeat expansion.
PloS oneQuality of life after cultured corneal endothelial cell transplant in patients with bullous keratopathy.
Japanese journal of ophthalmologyCorrelation between visual function and corneal backscatter by Scheimpflug imaging or anterior segment optical coherence tomography in Fuchs endothelial corneal dystrophy.
Japanese journal of ophthalmologyEarly Clinical Outcomes of Cultured Human Corneal Endothelial Cell Injection (Vyznova) for Bullous Keratopathy: Initial Clinical Experience.
CorneaDistribution and Surgical Treatment of Corneal Dystrophies Over Eight Decades (1945-2024): An Analysis of Histopathologically Confirmed Cases from a German Center.
Journal of epidemiology and global healthA Comprehensive Review of the Role of Rho-Kinase Inhibitors in Corneal Diseases.
Life (Basel, Switzerland)Multicenter Early Experience of Preloaded Descemet Membrane Endothelial Keratoplasty With Endothelium-Inwards Technique With Dextran-Free Preservation Media.
CorneaThe PERK-p38 MAPK Axis Drives Endoplasmic Reticulum Stress-Induced Apoptosis in Fuchs Endothelial Corneal Dystrophy.
Investigative ophthalmology & visual scienceRare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy.
Genetics in medicine : official journal of the American College of Medical GeneticsClinical characteristics and risk factors for corneal guttae in Japanese cataract patients.
Japanese journal of ophthalmologyClinical Evaluation of Ripasudil for Corneal Edema: A Large-Scale Retrospective Cohort Study.
Journal of clinical medicineDescemet membrane endothelial keratoplasty combined with secondary sulcus hydrophobic intraocular lens implantation.
American journal of ophthalmology case reportsDelphi-Based Global Consensus on Fuchs Endothelial Corneal Dystrophy. An Endothelial Keratoplasty Learners Group Initiative.
American journal of ophthalmologyEstrogen-dependent Cancers in Female Patients With Fuchs Endothelial Corneal Dystrophy.
CorneaSurvey of Topical Steroid Usage Patterns After Descemet Membrane Endothelial Keratoplasty.
CorneaRepeat Expansion and Somatic Instability in TCF4 in Patients With Fuchs Endothelial Corneal Dystrophy Identified by Small Pool PCR.
Investigative ophthalmology & visual scienceCase report of spontaneous corneal clearance after subtotal graft detachment following combined Descemet's membrane endothelial keratoplasty and cataract surgery.
American journal of ophthalmology case reportsComparative Analysis of Descemet Membrane Endothelial Keratoplasty (DMEK) Versus Descemetorhexis Without Keratoplasty (DSO) in Patients with Fuchs Endothelial Corneal Dystrophy.
Journal of clinical medicineTGF-β Promotes Endothelial-to-Mesenchymal Transition and Alters Corneal Endothelial Cell Migration in Fuchs Endothelial Corneal Dystrophy.
International journal of molecular sciencesLong-Range PCR and Nanopore Sequencing Enables High-Throughput Detection of TCF4 Trinucleotide Repeat Expansions in Fuchs Endothelial Corneal Dystrophy.
Molecular diagnosis & therapyMultivariate relationships between graft detachment after DMEK and twelve pre/perioperative factors.
Scientific reportsAssessment of Early Fuchs Endothelial Corneal Dystrophy and CTG Trinucleotide Expansion Positivity Using Scheimpflug Imaging.
Ophthalmology scienceThree-year follow-up of eye bank prepared pre-loaded DMEK vs. pre-cut UT-DSAEK grafts.
European journal of ophthalmologyDecoding the Cornea-Glaucoma Association: Evidence From Mendelian Randomization.
Investigative ophthalmology & visual scienceRole of corneal tomography in determining the outcomes of descemet membrane endothelial keratoplasty in fuchs endothelial corneal dystrophy.
Indian journal of ophthalmologyTen years of Descemet membrane endothelial keratoplasty: Identifying risk factors and early failure signs.
Indian journal of ophthalmologyReanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease.
Neurology. GeneticsComparative Analysis of Corneal Morphological and Optical Parameters in Predicting DSAEK Surgery Outcome.
Medicina (Kaunas, Lithuania)SLC4A11 Revisited: Isoforms, Expression, Functions, and Unresolved Questions.
BiomoleculesClinical Outcomes of Descemet Membrane Endothelial Keratoplasty in Saudi Patients.
Clinical ophthalmology (Auckland, N.Z.)Validation of the Italian Version of the Visual Function and Corneal Health Status (V-FUCHS) Questionnaire: A Patient-Reported Visual Disability Instrument for Fuchs' Endothelial Corneal Dystrophy.
Journal of clinical medicineRegional Variation in Guttae Distribution in Fuchs Endothelial Corneal Dystrophy.
Ophthalmology scienceCurrent Applications of Artificial Intelligence for Fuchs Endothelial Corneal Dystrophy: A Systematic Review.
Translational vision science & technologyFar-Red, High-Resolution, Reflection-Free Images of the Anterior Segment in Retro-Illumination.
Translational vision science & technologyGeneration of a Mouse Model of Fuchs Endothelial Corneal Dystrophy by Knock-in of CTG Trinucleotide Repeat Expansion in the TCF4 Gene.
Investigative ophthalmology & visual scienceInfluence of Graft Donor Age in Descemet Membrane Endothelial Keratoplasty.
CorneaRho-Kinase Inhibitors in the Management of Fuchs Endothelial Corneal Dystrophy: A Review.
Medicina (Kaunas, Lithuania)Descemet membrane endothelial keratoplasty after cataract surgery with presbyopia-correcting intraocular lens for coexisting Fuchs endothelial corneal dystrophy and cataract.
Japanese journal of ophthalmologyDNA methylation modification: Dawn of research on cornea-related diseases.
Life sciencesFunctional Assessment of FECD in the National Advanced Driving Simulator: Initial Study of Nighttime Glare and Scheimpflug Imaging.
CorneaGeneration of FECD Phenotypes in the Mouse Cornea by UVA Exposure and Surgical Removal of its Corneal Endothelial Layer.
Bio-protocolAssociations between measures of oestrogen exposure and severity of Fuchs endothelial corneal dystrophy.
BMJ open ophthalmologyGenome-wide association study of Fuchs' endothelial corneal dystrophy in the German population.
Human geneticsOne year follow up of descemet stripping only: corneal tomography changes and visual acuity outcomes.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieOptimizing IOL calculation in triple-DMEK: Data from a real-life cohort.
Journal of optometryA feasibility of computational drug screening for Fuchs endothelial corneal dystrophy.
Scientific reportsComprehensive analysis of splicing variants in corneal endothelial cells of patients with Fuchs endothelial corneal dystrophy.
Scientific reportsComprehensive identification of dysregulated extracellular matrix molecules in the corneal endothelium of patients with Fuchs endothelial corneal dystrophy.
Scientific reportsTCF4 expansion-associated loss of FN1 intron retention drives extracellular matrix accumulation in Fuchs endothelial corneal dystrophy.
Experimental eye researchFellow Eye Comparison of Tomographic Parameters and Higher-Order Aberrations in Ultrathin Descemet Stripping Automated Endothelial Keratoplasty and Descemet Membrane Endothelial Keratoplasty.
Klinische Monatsblatter fur AugenheilkundePeripheral Iridotomy-Less Approach in Descemet's Membrane Endothelial Keratoplasty Using Pupil-Dilating Eye Drops, a Retrospective Case-Control Study.
Clinical ophthalmology (Auckland, N.Z.)Assessment of tomographic parameters and detection of subclinical edema in Fuchs' endothelial corneal dystrophy pre-cataract surgery.
International journal of ophthalmologyFrom Genes to Disease: Reassessing LOXHD1 and AGBL1's Contribution to Fuchs' Dystrophy.
International journal of molecular sciencesLycopene Protects Corneal Endothelial Cells from Oxidative Stress by Regulating the P62-Autophagy-Keap1/Nrf2 Pathway.
Journal of agricultural and food chemistryThe prevalence of corneal guttata and its related risk factors in a Thai population: a community-based study in central Thailand.
Scientific reportsProliferator-Activated Receptor Alpha Inhibits Abnormal Extracellular Matrix Accumulation and Maintains Energy Metabolism in Late-Onset Fuchs Endothelial Corneal Dystrophy.
Investigative ophthalmology & visual scienceReview of the Literature: Surgery Indications for Fuchs' Endothelial Corneal Dystrophy.
Journal of clinical medicinePreclinical Models for Studying Fuchs Endothelial Corneal Dystrophy.
CellsTherapeutic Potential of Emricasan, a Pan-Caspase Inhibitor, in Reducing Cell Death and Extracellular Matrix Accumulation in Fuchs Endothelial Corneal Dystrophy.
CellsEndothelial keratoplasty: indications and outcomes in a tertiary care center in Lebanon.
BMC ophthalmologyIron-Sulfur Clusters and Iron Responsive Element Binding Proteins Mediate Iron Accumulation in Corneal Endothelial Cells in Fuchs Dystrophy.
Investigative ophthalmology & visual scienceHeterozygous Tcf4 Deficiency Mitigates Fuchs Endothelial Corneal Dystrophy Progression in a Mouse Model.
Investigative ophthalmology & visual scienceGenotyping methods for Fuchs corneal endothelial dystrophy.
Journal francais d'ophtalmologieVisual Recovery After Descemet Membrane Endothelial Keratoplasty in Eyes With Preexisting Multifocal Intraocular Lens.
CorneaHow "Omics" Studies Contribute to a Better Understanding of Fuchs' Endothelial Corneal Dystrophy.
Current issues in molecular biologyCorneal Layer Segmentation in Healthy and Pathological Eyes: A Joint Super-Resolution Generative Adversarial Network and Adaptive Graph Theory Approach.
Translational vision science & technologyDescemet Stripping Only for Symptomatic Fuchs Endothelial Dystrophy-A Retrospective Case Series Comparing ROCK-I vs. Hypertonic Sodium Chloride for Post-Surgical Adjuvant Therapy.
Journal of clinical medicineMETTL3-m6A-mediated TGF-β signaling promotes Fuchs endothelial corneal dystrophy via regulating corneal endothelial-to-mesenchymal transition.
Cell death discoveryEffect of the use of intraoperative optical coherence tomography in descemet's membrane endothelial keratoplasty.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieInvolvement of TGF-β signaling pathway-associated genes in the corneal endothelium of patients with Fuchs endothelial corneal dystrophy.
Experimental eye researchGenetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity.
JAMA ophthalmologyCharacteristics of the Corneal Endothelium in Elderly Adults with High Myopia.
Phenomics (Cham, Switzerland)The TCF4 Gene Regulates Apoptosis of Corneal Endothelial Cells in Fuchs Endothelial Corneal Dystrophy.
Investigative ophthalmology & visual sciencePreoperative edema severity affects outcomes after Descemet membrane endothelial keratoplasty for Fuchs endothelial corneal dystrophy: a cohort study.
Eye and vision (London, England)Transcriptional Profiling of Patients With Fuchs Endothelial Corneal Dystrophy With and Without Trinucleotide Repeat Expansion in TCF4.
CorneaCharacterisation of the role played by ELMO1, GPR141 and the intergenic polymorphism rs918980 in Fuchs' dystrophy in the Indian population.
FEBS open bioEfficacy of the Rho-Kinase Inhibitor for Corneal Endothelial Protection in Fuchs Endothelial Corneal Dystrophy After Phacoemulsification.
CorneaEndoplasmic Reticulum-Mitochondria Crosstalk in Fuchs Endothelial Corneal Dystrophy: Current Status and Future Prospects.
International journal of molecular sciencesAnthropometric Measures and Fuchs' Endothelial Corneal Dystrophy: The Women's Health Initiative Observational Study.
Investigative ophthalmology & visual scienceNational Survey on Corneal Transplantation in Japan.
CorneaLetter Regarding: Assessing Corneal Tomographic Changes in Fuchs Endothelial Corneal Dystrophy Over 1 Year: Scheimpflug Versus Anterior Segment Optical Coherence Tomography.
CorneaClinical Outcome of Endothelium-Outward Preloaded Descemet Membrane Endothelial Keratoplasty in Long-Term Dextran-Containing Transport Medium Preservation.
CorneaAntioxidant MitoQ increases viability of human corneal endothelial cells with congenital hereditary endothelial dystrophy-associated SLC4A11 mutations.
Ophthalmic geneticsMitochondria-Targeted Antioxidant (MitoQ) and Nontargeted Antioxidant (Idebenone) Mitigate Mitochondrial Dysfunction in Corneal Endothelial Cells.
CorneaDiabetes Endothelial Keratoplasty Study: Methods and Impact on the Use of Corneas From Donors With Diabetes for Descemet Membrane Endothelial Keratoplasty.
CorneaLetter Regarding: Novel Mechanisms Guide Innovative Molecular-Based Therapeutic Strategies for Fuchs Endothelial Corneal Dystrophy.
CorneaDemographic Profile and Clinical Characteristics of Fuchs Endothelial Corneal Dystrophy in Thai Patients: A Retrospective Cohort in a Tertiary Referral Center.
Clinical ophthalmology (Auckland, N.Z.)Sex-Dependent Variations in Gene Expression in Corneal Endothelial Cells Among Healthy Individuals and Patients With Fuchs Endothelial Corneal Dystrophy.
CorneaLate corneal guttae recurrence in bilateral penetrating keratoplasty grafts.
European journal of ophthalmologyPredictors of Health Care Disparities in Fuchs Dystrophy Treatment Using the IRIS Registry.
CorneaTen-year outcomes after DMEK, DSAEK, and PK: insights on graft survival, endothelial cell density loss, rejection and visual acuity.
Scientific reportsImaging pathology in archived cornea with Fuchs' endothelial corneal dystrophy including tissue reprocessing for volume electron microscopy.
Scientific reportsPredicting corneal decompensation in Fuchs endothelial corneal dystrophy with Scheimpflug tomography and clinical parameters.
Indian journal of ophthalmologyPrevalence of Transcription Factor 4 Gene Triplet Repeat Expansion Associated with Fuchs' Endothelial Corneal Dystrophy in the United States and Global Populations.
Ophthalmology scienceQuality of Life Survey Using NEI VFQ-25 in Japanese Patients With Fuchs Endothelial Corneal Dystrophy.
Eye & contact lensAssessing Corneal Tomographic Changes in Fuchs Endothelial Corneal Dystrophy Over 1 Year: Scheimpflug Versus Anterior Segment Optical Coherence Tomography.
CorneaPrevalence and Severity of Corneal Guttata After Descemet Membrane Endothelial Keratoplasty.
CorneaValidation of a French Version of the Visual Function and Corneal Health Status Instrument and Correlation With Vision and Glare Measurements in Fuchs Endothelial Corneal Dystrophy.
CorneaSurgeon Perspectives on Descemetorhexis Without Endothelial Keratoplasty for Fuchs Endothelial Corneal Dystrophy: A UK National Survey.
CureusCystoid macular edema following repeat DMEK: incidence and risk factors.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieMolecular Changes in Aqueous Humor Associated with Inflammation Following Cataract Surgery in Patients with Fuchs' Endothelial Corneal Dystrophy.
Ophthalmology and therapyMiR-23a-3p targets PTEN as a novel anti-ferroptosis regulator in Fuchs endothelial corneal dystrophy.
Experimental eye researchATF4 regulates mitochondrial dysfunction and mitophagy, contributing to corneal endothelial apoptosis in Fuchs' dystrophy.
bioRxiv : the preprint server for biologyExploring the Role of ROCK Inhibition in Corneal Edema Through Crosstalk Between Epithelial and Endothelial Cells.
Journal of ophthalmologyModulation of ATM enhances DNA repair in G2/M phase of cell cycle and averts senescence in Fuchs endothelial corneal dystrophy.
Communications biologyAssociations between the incidence of Fuchs' endothelial corneal dystrophy and menopausal hormone therapy use and exposure to endogenous estrogen.
MaturitasInfluence of surgeon learning on outcomes in new ophthalmic procedures: quantified nationwide evidence in endothelial corneal transplantation.
The British journal of ophthalmologySecondary sulcus IOL implantation for presbyopia correction following Descemet Membrane Endothelial Keratoplasty.
American journal of ophthalmology case reportsImpact of postoperative intraocular pressure elevation on graft endothelial cells in non-preexisting glaucoma eyes undergoing descemet membrane endothelial keratoplasty: a cohort study.
BMC ophthalmologyAnalysis of factors influencing refractive error in Fuchs eyes undergoing Descemet membrane endothelial keratoplasty triple procedure.
The British journal of ophthalmologyDescemet Endothelial Thickness Comparison Trial II (DETECT II): multicentre, outcome assessor-masked, placebo-controlled trial comparing Descemet membrane endothelial keratoplasty (DMEK) to Descemet stripping only (DSO) with adjunctive ripasudil for Fuchs dystrophy.
BMJ open ophthalmology[Pathogenesis of Fuchs endothelial corneal dystrophy, the fibrillar layer and individualized treatment].
Die OphthalmologieChallenging corneal diseases and microRNA expression: Focus on rare diseases and new therapeutic frontiers.
Survey of ophthalmologyTCF4 trinucleotide repeat expansions and UV irradiation increase susceptibility to ferroptosis in Fuchs endothelial corneal dystrophy.
Redox biologyChange in Visual Acuity of Patients With Fuchs Endothelial Corneal Dystrophy Over 1 Year.
CorneaTissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.
EBioMedicineLong-term persistent exposure to cigarette smoke induces AhR driven corneal endothelial dysfunction in mice.
Experimental eye researchDiurnal changes of corneal epithelial and stromal thickness maps and visual quality in mild form of Fuchs' endothelial corneal dystrophy.
Indian journal of ophthalmologyAnatomic Characteristics of Eyes With Fuchs Endothelial Corneal Dystrophy.
CorneaIncreased Risk of Glaucoma in Fuchs Endothelial Corneal Dystrophy Is Independent of TCF4 Trinucleotide Repeat Expansion.
CorneaRapid detection of guttae area using aniline blue staining in Fuchs endothelial corneal dystrophy mouse model.
Clinical and experimental pharmacology & physiologyFuchs' Endothelial Corneal Dystrophy evaluation using a high-resolution wavefront sensor.
Scientific reportsArtificial intelligence in corneal diseases: A narrative review.
Contact lens & anterior eye : the journal of the British Contact Lens AssociationScheimpflug Tomography as a Predictor of Corneal Edema After Phacoemulsification in Fuchs Endothelial Corneal Dystrophy.
Clinical ophthalmology (Auckland, N.Z.)MitoQ relieves mitochondrial dysfunction in UVA and cigarette smoke-induced Fuchs endothelial corneal dystrophy.
Experimental eye researchAnalysis of Corneal Phenotypes in Japanese Patients With Myotonic Dystrophy Type 1.
CorneaNeuropeptide alpha-Melanocyte stimulating hormone preserves corneal endothelial morphology in a murine model of Fuchs dystrophy.
Scientific reportsEvolution of therapeutic strategy based on oxidant-antioxidant balance for fuchs endothelial corneal dystrophy.
The ocular surfaceCorneal High-Order Aberrations in Fuchs Endothelial Corneal Dystrophy and Subclinical Corneal Edema.
CorneaEnhanced Migration of Fuchs Corneal Endothelial Cells by Rho Kinase Inhibition: A Novel Ex Vivo Descemet's Stripping Only Model.
CellsGuttae Morphology After Cultured Corneal Endothelial Cell Transplant in Fuchs Endothelial Corneal Dystrophy.
JAMA ophthalmologyExpression of Hormones' Receptors in Human Corneal Endothelium from Fuchs' Dystrophy: A Possible Gender' Association.
Journal of clinical medicineMicrokeratome versus manually dissected donor tissue for Descemet stripping endothelial keratoplasty: A randomized prospective study.
Indian journal of ophthalmologyClinical Outcomes of Repeat Descemet Membrane Endothelial Keratoplasty After Graft Failure.
CorneaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Distrofia corneana, endotelial de Fuchs.
É de uma associação que acompanha esta doença? Fale com a gente →
Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Distrofia corneana, endotelial de Fuchs e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É a forma mais comum de distrofia da camada posterior da córnea, provocando o surgimento de depósitos chamados guttae e edema no tecido ocular. Com o passar do tempo, esses depósitos causam perda celular e embaçamento contínuo da visão.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Distrofia corneana, endotelial de Fuchs. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/distrofia-corneana-endotelial-de-fuchs
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Distrofia corneana, endotelial de Fuchs
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov
