O termo distrofia corneana abrange um grupo heterogêneo de doenças bilaterais não inflamatórias da córnea, geneticamente determinadas, que geralmente são restritas à córnea. A designação é imprecisa, mas permanece em voga devido ao seu valor clínico.
Introdução
O que você precisa saber de cara
O termo distrofia corneana abrange um grupo heterogêneo de doenças bilaterais não inflamatórias da córnea, geneticamente determinadas, que geralmente são restritas à córnea. A designação é imprecisa, mas permanece em voga devido ao seu valor clínico.
Tem tratamento?
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
Partes do corpo afetadas
+ 55 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 160 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
23 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked recessive.
Zinc-finger transcription repressor factor (PubMed:19700410). Plays a critical role in maintaining the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition (EMT) mainly through the repression of ZEB1, an EMT inducer (By similarity). Positively regulates neuronal differentiation (By similarity). Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1 (PubMed:19700410). Important for the correct development of primo
Nucleus
Corneal dystrophy, posterior polymorphous, 1
A rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non-progressive, even within the same family.
Corneal dystrophy, Meesmann 2
A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD2 inheritance is autosomal dominant.
Dual specificity kinase implicated in myriad essential cellular processes such as maintenance of endomembrane homeostasis, and endocytic-vacuolar pathway, lysosomal trafficking, nuclear transport, stress- or hormone-induced signaling and cell cycle progression (PubMed:23086417). The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Sole enzyme to catalyze the phosphorylation of phosphatidylinositol 3-phosphate on the
Endosome membraneEarly endosome membraneCytoplasmic vesicle, phagosome membraneLate endosome membrane
Corneal dystrophy, fleck
A form of stromal corneal dystrophy characterized by numerous small white flecks scattered in all levels of the stroma, with configurations varying from semicircular to wreath-like, curvilinear, or punctate. Although CFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision.
Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed (PubMed:19666512). Plays a role in ciliogenesis (PubMed:20393563)
Cytoplasm, cytoskeletonSecreted
Amyloidosis, hereditary systemic 4, Finnish type
A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD4 is due to gelsolin amyloid deposition and is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure. AMYLD4 is usually inherited in an autosomal dominant pattern. However, homozygotes with a more severe phenotype have also been reported.
May function as a growth factor receptor
Membrane
Corneal dystrophy, gelatinous drop-like
A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. GDLD is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity.
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan (PubMed:11278593, PubMed:11352640, PubMed:12218059, PubMed:17690104). Cooperates with B4GALT4 galactosyltransferase and B3GNT7 N-acetylglucosaminyltransferase to construct and elongate the sulfated disaccharide unit [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer. Involved i
Golgi apparatus membrane
Macular dystrophy, corneal
An ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity. Onset occurs in the first decade, usually between ages 5 and 9. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. The disease is due to deposition of an unsulfated keratan sulfate both within the intracellular space (within the keratocytes and endothelial cells) and in the extracellular corneal stroma. Macular corneal dystrophy is divided into the clinically indistinguishable types I, IA, and II based on analysis of the normally sulfated, or antigenic, keratan sulfate levels in serum and immunohistochemical evaluation of the cornea. Patients with types I and IA macular corneal dystrophy have undetectable serum levels of antigenic keratan sulfate, whereas those with type II macular corneal dystrophy have normal or low levels, depending on the population examined.
Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'
Nucleus
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.
Transcription factor playing an important role in primary neurulation and in epithelial development (PubMed:25152456, PubMed:29309642). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (By similarity). During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure
NucleusMembrane
Deafness, autosomal dominant, 28
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progresses to severe loss in the higher frequencies by the fifth decade.
Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also a component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity)
Secreted, extracellular space, extracellular matrix, basement membrane
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.
Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides (PubMed:17707404, PubMed:29438714, PubMed:33889951, PubMed:7733872). Acts synergistically with MAP3K13 to regulate the activation of NF-kappa-B in the cytosol (PubMed:12492477). Required for the maintenance of physical strength (By similarity)
MitochondrionCytoplasmEarly endosome
Spinocerebellar ataxia, autosomal recessive, 32
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR32 is characterized by the onset of gait ataxia in the second or third decades of life. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy. Atrophy can extend to the brainstem and medullary olives.
Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10 (PubMed:20953171, PubMed:23374346). MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development (PubMed:20953171). Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl
Endoplasmic reticulum membraneGolgi apparatus membraneMitochondrion membraneCytoplasmNucleus
Corneal dystrophy, Schnyder type
A form of stromal corneal dystrophy characterized by corneal clouding, resulting from abnormal deposition of cholesterol and phospholipids, and decreased visual acuity. Typically, ring-shaped yellow-white opacities composed of innumerable fine needle-shaped crystals form in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared.
Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis (PubMed:11013137, PubMed:12459486, PubMed:14749347, PubMed:15336987, PubMed:18794901, PubMed:25720963, PubMed:27623384, PubMed:29019983). Acts as a Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:25720963, PubMed:29019983). Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is importan
Late endosome membraneLysosome membraneCytoplasmic vesicle membraneCell projection, phagocytic cupCytoplasmic vesicle, phagosome membraneCell membrane
Mucolipidosis 4
An autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels.
May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies
Cell junction, hemidesmosomeMembraneSecreted, extracellular space, extracellular matrix, basement membrane
Epidermolysis bullosa, junctional 4, intermediate
A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB4 is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur. JEB4 patients manifest blisters at birth or shortly afterward. Blisters may heal with atrophic scarring and variable hypo- or hyperpigmentation. Oral mucosa may be involved.
May affect the rate of fibrils formation
Secreted, extracellular space, extracellular matrixSecreted
Corneal dystrophy, congenital stromal
A corneal dystrophy characterized by congenital corneal opacification consisting of a large number of flakes and spots throughout all layers of the stroma. It results in progressive, painless visual loss. Corneal erosions and photophobia are absent.
Multifunctional transporter with an impact in cell morphology and differentiation. In the presence of borate B(OH)4(-), acts as a voltage-dependent electrogenic Na(+)-coupled B(OH)4(-) cotransporter controlling boron homeostasis (PubMed:15525507). At early stages of stem cell differentiation, participates in synergy with ITGA5-ITGB1 and ITGAV-ITGB3 integrins and BMPR1A to promote cell adhesion and contractility that drives differentiation toward osteogenic commitment while inhibiting adipogenesi
Cell membraneBasolateral cell membrane
Corneal dystrophy and perceptive deafness
An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss.
Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster (PubMed:10903837). May regulate the activity of the LCR and the cone opsin genes at earlier stages of development (PubMed:10903837). Dispensable in early retinal development (By similarity)
Nucleus
Keratoconus 1
Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission.
Secreted, extracellular space, extracellular matrix
Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity)
SecretedSecreted, extracellular space, extracellular matrix
Corneal dystrophy, epithelial basement membrane
A bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris.
Involved in corneal epithelium organization, integrity and corneal keratin expression
Corneal dystrophy, Meesmann 1
A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD1 inheritance is autosomal dominant.
Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Repr
Nucleus
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.
Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins. Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of tubulin protein. Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate. Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of non-tubulin proteins such as MYLK
Cytoplasm, cytosol
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.
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Acts as a transcriptional repressor of NFATC1-mediated gene expression (By s
Nucleus
Aniridia 1
A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.
Acts as the sensor component of the NLRP1 inflammasome, which mediates inflammasome activation in response to various pathogen-associated signals, leading to subsequent pyroptosis (PubMed:12191486, PubMed:17349957, PubMed:22665479, PubMed:27662089, PubMed:31484767, PubMed:33093214, PubMed:33410748, PubMed:33731929, PubMed:33731932, PubMed:35857590). Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critic
Cytoplasm, cytosolCytoplasmNucleusInflammasome
Vitiligo-associated multiple autoimmune disease 1
A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus.
Medicamentos e terapias
Mecanismo: Rho-associated protein kinase inhibitor
Mecanismo: Rho-associated protein kinase inhibitor
Mecanismo: Rho-associated protein kinase inhibitor
Mecanismo: Thyrotropin-releasing hormone receptor agonist
Mecanismo: Cyclooxygenase inhibitor
Variantes genéticas (ClinVar)
108 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,376 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
49 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 da córnea
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
🟢 Recrutando agora
16 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
148 ensaios clínicos encontrados, 17 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.507
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.
Precise CRISPR-Mediated Editing of the TGFBI R555W Mutation in Patient-Derived Peripheral Blood Mononuclear Cells.
Over 70 mutations in the transforming growth factor beta-induced (TGFBI) gene are associated with corneal dystrophies that impair vision. The R555W hotspot mutation is a major cause of granular corneal dystrophy type 1 (GCD1). Here, we evaluated the technical feasibility of CRISPR/Cas9-mediated editing of the R555W mutation in peripheral blood mononuclear cells (PBMCs) obtained from a patient with GCD1. Three single guide RNAs (sgRNA1-3) and matched single-stranded oligodeoxynucleotide donors (ssODN1-3) were designed and co-transfected into PBMCs. Transfected cells were enriched by flow cytometric sorting, with GFP-positive cells representing approximately 2-4% of the total electroporated population. Editing outcomes were initially screened using high-resolution melting (HRM) analysis, and the sgRNA3-ssODN3 combination identified as the most promising candidate was subsequently validated by next-generation sequencing (NGS). Sequencing revealed a homology-directed repair efficiency of 98.2% among GFP-positive sorted cells, demonstrating efficient and precise genome editing within the enriched population. Because PBMCs are not disease-relevant corneal epithelial cells and only genomic endpoints were assessed, the clinical applicability of this study is limited and the work should be considered a technical proof-of-concept. This framework supports optimization of CRISPR-based strategies prior to studies in biologically relevant corneal models.
CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies.
Lattice and granular corneal dystrophy comprise two common TGFBI-associated autosomal dominant corneal disorders. Existing therapies are only temporizing and carry significant morbidity. Here, we develop a novel therapeutic approach using an adenine base editor (ABE) to correct common TGFBI mutations. We generated two human corneal epithelial (HCE) cell models harboring a copy of the most common disease-causing TGBFI mutations, R124C or R555W. These lines were electroporated with an ABE8e-NG-encoding mRNA and guide RNAs targeting the mutations. The resulting A•T-to-G•C editing efficiencies and off-target (OT) effects were assessed by amplicon sequencing. GFP-expressing adeno-associated viruses (AAVs) with different capsid types were transduced into HCE cells and healthy human corneal donor tissues, and GFP fluorescence was evaluated. Using all-RNA delivery for ABE8e-NG, we achieved 91% and 62% correction of the pathogenic adenines in HCE TGFBIR124C/WT and TGFBIR555W/WT cells, without editing the wild-type allele. Indel formation was negligible (<0.2%), bystander adenine editing was minimal (<0.7%), and editing at top computationally predicted OT sites was modest (<1.2% at all but 1 of the 20 OT sites analyzed), suggesting minimal safety concerns. Correction of TGFBIR124C/WT in HCEs rescued the aberrant lysosomal localization of TGFBI. We further identified AAV1 as the most effective serotype for gene delivery into both human corneal donor tissue and HCE cells. Our study demonstrates the feasibility and safety of CRISPR adenine base editing as a new therapeutic strategy for correcting common TGFBI mutations in corneal dystrophies, paving the way for further preclinical testing.
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.
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.
Cataract surgery with corneal endothelial pathology.
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).
Professor Ernst Fuchs (1851-1930): his life, work, and contribution to the development of ophthalmology.
DMEK graft preparation techniques - liquid bubble technique compared to Melles technique.
📚 EuropePMC1.880 artigos no totalmostrando 197
Unilateral Lattice Corneal Dystrophy Associated With c.1864A>T Variant in the Transforming Growth Factor Beta-Induced Gene: A Rare Case Report.
Eye & contact lens[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. MedicineScanning electron microscopy of the descemet membrane in macular corneal dystrophy.
European journal of ophthalmologyGeneration 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)Precise CRISPR-Mediated Editing of the TGFBI R555W Mutation in Patient-Derived Peripheral Blood Mononuclear Cells.
International journal of molecular sciencesFuchs' Endothelial Corneal Dystrophy and Cardiometabolic Comorbidities.
OphthalmologyClinical Profile and Visual Rehabilitation with Mini-Scleral Device in Irregular Corneas at a Tertiary Eye Hospital : An Observational Study.
JNMA; journal of the Nepal Medical AssociationA View of Cornea Transplantation From the Patient's Perspective.
Transplantation proceedings[Spontaneous course of a lattice corneal dystrophy with initially atypical corneal findings in childhood and a 10-year follow-up].
Die OphthalmologieCRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies.
Investigative ophthalmology & visual scienceTAZ (Wwtr1) deficiency leads to ER stress and mitochondrial dysfunction in a mouse model of Fuchs' endothelial corneal dystrophy.
bioRxiv : the preprint server for biology[Bilateral ring-shaped stromal crystalline corneal deposits in an 8-year-old child].
Die OphthalmologiePathological 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 sciencesIlluminating Blurry Vision: Visualization of Corneal Protein Deposition With Immunofluorescence in Two Illustrative Case Reports.
Case reports in pathologyAssociation 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 ophthalmologyMeesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.
International journal of molecular sciencesHigher-order aberrations and visual outcomes of a new refractive extended depth-of-focus intraocular lens with a target of slight myopia.
Scientific reportsDysregulation 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.
Cornea[The clinical effectiveness of transepithelial phototherapeutic keratectomy in the treatment of band keratopathy].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyPIKfyve is an essential component of the endolysosomal pathway within photoreceptors and the retinal pigment epithelium.
Experimental eye researchRefractive 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 & diseaseA digenic contribution of RPGRIP1 and SLC4A4 to juvenile-onset open-angle glaucoma phenotype with concomitant corneal dystrophy.
Indian journal of ophthalmologyDifferential 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 scienceOutcomes of descemet's membrane endothelial keratoplasty in patients under thirty years old.
European journal of ophthalmologyMolecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants.
Ophthalmic geneticsATF4 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 biologyAnterior Segment Optical Coherence Tomography in the Diagnosis of Corneal Stromal Dystrophies in Romania.
MaedicaProtective 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 scienceAnalysis of corneal wavefront aberrations and corneal densitometry in eyes with epithelial basement membrane dystrophy.
International ophthalmologyCorneal transplantation triple procedures.
Survey of ophthalmologyKeratan sulfate revisited: UPLC-MS/MS-based quantitative profiling reveals structural heterogeneity and deficiency in ocular pathologies.
Carbohydrate polymersGenotype-Phenotype Correlations and Long-Term Surgical Outcomes in TGFBI-Linked Bowman's Layer Corneal Dystrophies.
CorneaLong-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 researchCase Report: Post-LASIK exacerbation of granular corneal dystrophy type 2: a familial case with TGFBI mutation.
Frontiers in medicineThe 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 OphthalmologieObjective assessment of graft clarity and recurrence after penetrating keratoplasty for granular, lattice and macular corneal dystrophy using scheimpflug densitometry.
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 discoveryPenetrating Keratoplasty in a Resource-Constrained Country: Surgical Outcomes and Challenges in the Absence of a Domestic Eye Bank.
CureusRisk 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 biologyUtilization of an automated machine learning approach for the detection of granular corneal dystrophy via slit lamp photographs.
BMC ophthalmology[Endothelial dystrophies and degenerations of the cornea].
Klinische Monatsblatter fur AugenheilkundeDeep Learning Model for Extensive Diagnosis of Corneal Deposits.
CorneaCorneal Densitometry for Early and Long-Term Evaluation of Surgical Outcomes After Phototherapeutic Keratectomy for Granular, Macular, and Lattice Corneal Dystrophy.
CorneaUnderstanding the role of hydration and hydration gradient in corneal disease.
Experimental eye researchTomographic 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)Fluid-Assisted Hydro-Bubble Technique With Newly Designed Cannula for Deep Anterior Lamellar Keratoplasty.
CureusGenetic Therapy of Fuchs Endothelial Corneal Dystrophy: Where Are We? A Review.
GenesDeep Learning Analysis of Widefield Cornea Endothelial Imaging in Fuchs Dystrophy.
Ophthalmology scienceTopical mutant allele-specific siRNA delivery for treatment of Meesmann epithelial corneal dystrophy and elucidation of disease biomarkers.
Journal of controlled release : official journal of the Controlled Release SocietySelf-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.)Simultaneous Type 1 and Type 2 Big-Bubble Deep Anterior Lamellar Keratoplasty (DALK) for Macular Corneal Dystrophy.
American journal of ophthalmologyInfluence of Graft Unfolding Time During Descemet Membrane Endothelial Keratoplasty on Postoperative Endothelial Cell Loss and Visual Acuity.
CorneaVisual and Refractive Outcomes of Different Bubble Types in Deep Anterior Lamellar Keratoplasty for Macular Corneal Dystrophy.
Journal of current ophthalmologyFuchs Endothelial Corneal Dystrophy Associations with Systemic Disease, Lifestyle, and Nutritional Intake.
Ophthalmology scienceStarry sky appearance of type 1 granular corneal dystrophy.
Eye (London, England)Aganirsen as a Therapeutic Alternative for Modulating Corneal Neovascularization: A Real-World Case Series Study.
Clinical ophthalmology (Auckland, N.Z.)Treatment 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 scienceHomozygous FAT1 frameshift mutation linked to glomerulotubular nephropathy with impaired cell adhesion and Rap1 signaling.
Renal failureConcurrent Meesmann Corneal Dystrophy and Epithelial Basement Membrane Dystrophy.
OphthalmologyCorneal 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 ophthalmologyConcordance Between Clinical and Pathological Diagnosis of Stromal Corneal Dystrophies in a Large Case Series.
CorneaSchnyder Corneal Dystrophy in an Adolescent: A Case Report With Multimodal Imaging.
CureusCorrelation 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.
CorneaEarly Biomechanical Alterations in Granular Corneal Dystrophy Type 2 From p.Ala546Asp Mutation Carriers.
CorneaCyclosporine eye drops in lattice corneal dystrophy type 1: case report.
Annals of medicine and surgery (2012)A Novel Mouse Model of Granular Corneal Dystrophy Type II Reveals Impaired Autophagy and Recapitulates Human Pathogenesis.
Investigative ophthalmology & visual scienceDistribution 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 scienceClinical Applications of Artificial Intelligence in Corneal Diseases.
Vision (Basel, Switzerland)Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy.
Genetics in medicine : official journal of the American College of Medical GeneticsDescemet's membrane endothelial keratoplasty in an eye with iridocorneal endothelial syndrome and rare association of corneal ectasia.
Therapeutic advances in ophthalmologyCorrigendum to "Penetrating keratoplasty versus deep anteriror lamellar keratoplasty for macular corneal dystrophy: A meta-analysis" [Survey Ophthalomol., vol. 70 (2025) P480-488/ PMID: 39709033].
Survey of ophthalmologyClinical characteristics and risk factors for corneal guttae in Japanese cataract patients.
Japanese journal of ophthalmologySurgical Outcomes in Patients Diagnosed With Corneal Opacity: An IRIS (Intelligent Research in Sight) Registry Study.
CorneaEfficacy and Safety of Penetrating Keratoplasty and Deep Anterior Lamellar Keratoplasty in Corneal Macular Dystrophy: A Systematic Review and Meta-Analysis.
Journal of ophthalmologyClinical Evaluation of Ripasudil for Corneal Edema: A Large-Scale Retrospective Cohort Study.
Journal of clinical medicinePeripheral Macular Endothelial Dystrophy: Clinical, Histopathologic, Genetic and Functional Characterization.
American journal of ophthalmologyDescemet 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.
CorneaReducing higher-order aberrations after keratorefractive lenticule extraction using asymmetric spacing spot/track distances with low-energy levels.
Journal of cataract and refractive surgerySurvey 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 scienceInvestigating the Relationship Between Corneal Dystrophy and Mental Health Conditions Using the All of Us Research Program Database.
American journal of ophthalmologyCollagen IV in Gould syndrome and Alport syndrome.
Nature reviews. NephrologyMultimodal Imaging of Genetically Confirmed X-Linked Endothelial Corneal Dystrophy.
CorneaCase report of spontaneous corneal clearance after subtotal graft detachment following combined Descemet's membrane endothelial keratoplasty and cataract surgery.
American journal of ophthalmology case reportsPersistent trypan blue staining following Descemet membrane endothelial keratoplasty after failed penetrating keratoplasty in type I lattice corneal dystrophy.
Journal francais d'ophtalmologieComparative Outcomes of the Next-Generation Extended Depth-of-Focus Intraocular Lens and Enhanced Monofocal Intraocular Lens in Cataract Surgery.
Journal of clinical medicineComparative 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 reportsPolygenic prediction of body mass index and obesity through the life course and across ancestries.
Nature medicineThe function of the JNK signaling pathway in cornea: recent advances.
Experimental eye researchRare TGFBI Mutation c.1553T>G p.(L518R) in Lattice Corneal Dystrophy: Comprehensive Clinical and Genetic Analysis in a Chinese Family.
American journal of ophthalmologyTranscriptome Analysis of TGFBI Knockdown vs Normal Corneal Epithelial Cells: Implications for TGFBI Corneal Dystrophy Treatment.
Biochemical geneticsAssessment of Early Fuchs Endothelial Corneal Dystrophy and CTG Trinucleotide Expansion Positivity Using Scheimpflug Imaging.
Ophthalmology science[Lattice corneal dystrophy].
Die OphthalmologieGenetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population.
Scientific reportsThree-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 science[Exacerbation of granular corneal dystrophy type 2 after laser in situ keratomileusis (LASIK)].
Die OphthalmologieUnusual pattern of recurrence at graft-host junction and interface after non-Descemet baring deep anterior lamellar keratoplasty in granular corneal dystrophy type 1: Report on clinical, histological, and OCT correlation with a review of literature.
Indian journal of ophthalmologyRole 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.
BiomoleculesA case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2.
Ophthalmic geneticsLetter Regarding: Definitive Treatment of Lisch Epithelial Corneal Dystrophy via Staged Keratectomy and Targeted Minor Limbal Excision With Cautery.
CorneaClinical Outcomes of Descemet Membrane Endothelial Keratoplasty in Saudi Patients.
Clinical ophthalmology (Auckland, N.Z.)Polymorphous corneal dystrophy subtype 3 and keratoconus aggravation after corneal refractive surgery in a three-generation family carrying both ZEB1 and ZNF469 pathogenic variant.
Frontiers in geneticsReduced quality of life in corneal dystrophy - a prospective case control study.
BMC ophthalmologyRock-Inhibitors eyedrops preventing cataract surgery induced corneal failure in Fuchs corneal dystrophy.
European journal of ophthalmologyDeliberate Ring Capture of Deposits in Homozygous Granular Corneal Dystrophy.
OphthalmologyValidation 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)In Vivo Confocal Microscopy Features of Corneal Dystrophy in Siberian Huskies.
Veterinary ophthalmologyDescemet membrane endothelial keratoplasty after cataract surgery with presbyopia-correcting intraocular lens for coexisting Fuchs endothelial corneal dystrophy and cataract.
Japanese journal of ophthalmologyA novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.
Orphanet journal of rare diseasesDNA 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.
CorneaFemtosecond Descemet Membrane Endothelial Keratoplasty for Failed Deep Anterior Lamellar Keratoplasty: A Case Series.
CorneaGeneration of FECD Phenotypes in the Mouse Cornea by UVA Exposure and Surgical Removal of its Corneal Endothelial Layer.
Bio-protocolModulation of TTR gene expression in the eye using modified siRNAs.
Nucleic acids researchAssociations between measures of oestrogen exposure and severity of Fuchs endothelial corneal dystrophy.
BMJ open ophthalmologyBilateral Paracentral Corneal Opacity in a Man Aged 22 Years.
JAMA ophthalmologyAllosteric regulation of UBIAD1 trafficking from ER to Golgi revealed by chemical genetic screening.
Proceedings of the National Academy of Sciences of the United States of America[Patient- and donor-dependent factors in descemet membrane endothelial keratoplasty and their impact on visual acuity and quality of life].
Die OphthalmologieGenome-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 OphthalmologieEvolving indications and surgical trends in keratoplasty: a 7-year analysis from a Chinese tertiary referral center.
International ophthalmologyA Novel Homozygous Nonsense Mutation in TACSTD2 Gene Causes Gelatinous Drop-like Corneal Dystrophy in a Chinese Consanguineous Family: A Case Report and Literature Review.
CorneaOptimizing IOL calculation in triple-DMEK: Data from a real-life cohort.
Journal of optometryA Case Report of Successful Cataract Surgery in Theil-Behnke Corneal Dystrophy: A Visual Rehabilitation for the Patient.
Case reports in ophthalmologyDescemet's Membrane Detachment During Cataract Surgery in Lattice Corneal Dystrophy Type I: Histopathological Analysis of Posterior Corneal Involvement.
CureusA 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 reportsPentacam-based corneal densitometry in posterior polymorphous corneal dystrophy.
BMJ case 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 medicineAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Distrofia da córnea.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Distrofia da córnea
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Targeted AAV6 gene therapy restores corneal endothelial function in three hereditary corneal dystrophies.
- Precise CRISPR-Mediated Editing of the TGFBI R555W Mutation in Patient-Derived Peripheral Blood Mononuclear Cells.
- CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies.
- Genome-wide association study of corneal dystrophy uncovers novel risk loci and enables improved polygenic prediction of Fuchs endothelial corneal dystrophy.
- Fuchs Endothelial Corneal Dystrophy: A Post Hoc Analysis of the Women's Health Initiative Randomized Hormone Therapy Clinical Trials.
- 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.
- Cataract surgery with corneal endothelial pathology.
- 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).
- Professor Ernst Fuchs (1851-1930): his life, work, and contribution to the development of ophthalmology.
- DMEK graft preparation techniques - liquid bubble technique compared to Melles technique.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:34533(Orphanet)
- MONDO:0018102(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2044949(Wikidata)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
