FCED
MCID: FCH001
MIFTS: 48

Fuchs' Endothelial Dystrophy (FCED)

Categories: Eye diseases, Gastrointestinal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Fuchs' Endothelial Dystrophy

MalaCards integrated aliases for Fuchs' Endothelial Dystrophy:

Name: Fuchs' Endothelial Dystrophy 12 43 44 15
Fuchs Endothelial Corneal Dystrophy 20 43 58 29
Late Hereditary Endothelial Dystrophy 20 58
Endoepithelial Corneal Dystrophy 20 58
Fuchs Endothelial Dystrophy 43 70
Fuchs Corneal Dystrophy 43 36
Fuchs Dystrophy 43 54
Fecd 20 58
Corneal Dystrophy, Fuchs' Endothelial, 1 70
Dystrophy, Corneal, Fuchs Endothelial 39
Fuchs' Endothelial Corneal Dystrophy 12
Corneal Dystrophy, Fuchs Endothelial 54
Fuchs' Corneal Dystrophy 12
Fuchs Atrophy 43
Fced 12

Characteristics:

Orphanet epidemiological data:

58
fuchs endothelial corneal dystrophy
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:11555
KEGG 36 H00960
MeSH 44 D005642
NCIt 50 C84721
SNOMED-CT 67 16949007
ICD10 32 H18.51
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 71 C0016781
Orphanet 58 ORPHA98974
UMLS 70 C0016781 C1850959

Summaries for Fuchs' Endothelial Dystrophy

GARD : 20 Fuchs endothelial corneal dystrophy (FECD) is an eye disease. It affects the thin layer of cells that line the back part of the cornea. This layer is called the endothelium. The disease occurs when these cells slowly start to die off. The cells help pump excess fluid out of the cornea. As more and more cells are lost, fluid begins to build up in the cornea, causing swelling and a cloudy cornea. There are several forms of the disease according to the age of onset of the symptoms and the cause. The early-onset form is very rare and is known as Fuchs endothelial corneal dystrophy 1 (or early-onset Fuchs endothelial corneal dystrophy) and it is caused by a change ( mutation ) in the COL8A2 gene. Late-onset Fuchs endothelial corneal dystrophies are common and include: Fuchs endothelial corneal dystrophy 2 (caused by a mutation in an unknown gene located in chromosome 13 ) Fuchs endothelial corneal dystrophy 3 (may be caused by TCF4 gene mutations) Fuchs endothelial corneal dystrophy 4 (caused by a mutation in the SLC4A11 gene ) Fuchs endothelial corneal dystrophy 5 (caused by a mutation in an unknown gene located in chromosome 15 ) Fuchs endothelial corneal dystrophy 6 (caused by a mutation in the ZEB1 gene ) Fuchs endothelial corneal dystrophy 7 (caused by a mutation in an unknown gene located in chromosome 9 ) Fuchs endothelial corneal dystrophy 8 (caused by heterozygous mutation in the AGBL1 gene ). Early in the disease, patients typically do not have symptoms. In the late-onset forms, the symptoms start around 50 or 60 years and include discomfort and painful episodes of recurrent corneal wounds and hazy vision. Over time, discomfort may diminish but severe impairment of visual acuity, and even blindness and cataracts in elderly patients, may be observed. Once the vision has worsened, the recommended treatment is a penetrating graft which has excellent results in most cases.

MalaCards based summary : Fuchs' Endothelial Dystrophy, also known as fuchs endothelial corneal dystrophy, is related to corneal edema and corneal dystrophy. An important gene associated with Fuchs' Endothelial Dystrophy is TCF4 (Transcription Factor 4), and among its related pathways/superpathways are Detoxification of Reactive Oxygen Species and Prostaglandin 2 biosynthesis and metabolism FM. The drugs Prednisolone acetate and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include endothelial and eye, and related phenotype is vision/eye.

Disease Ontology : 12 A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.

MedlinePlus Genetics : 43 Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.Fuchs endothelial dystrophy specifically affects the front surface of the eye called the cornea. Deposits called guttae, which are detectable during an eye exam, form in the middle of the cornea and eventually spread throughout the cornea. These guttae contribute to the ongoing cell death within the cornea, leading to worsening vision problems. Tiny blisters may develop on the cornea, which can burst and cause eye pain.The signs and symptoms of Fuchs endothelial dystrophy usually begin in a person's forties or fifties. A very rare early-onset variant of this condition starts to affect vision in a person's twenties.

KEGG : 36 Fuchs endothelial corneal dystrophy (FECD) is characterized by progressive loss of corneal endothelial cells, thickening of Descemet membrane, and deposition of extracellular matrix in the form of guttae. As a result, the endothelial layer is eventually no longer able to support corneal deturgescence, leading to corneal edema and decreased in visual acuity. These findings usually become clinically evident in the fourth and fifth decades of life. Corneal transplantation is currently the only modality used to restore vision. FECD is a genetically complex disorder, but the familial risk is relatively high.

Related Diseases for Fuchs' Endothelial Dystrophy

Diseases related to Fuchs' Endothelial Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 corneal edema 31.5 ZEB1 VSX1 TGFBI SLC4A11 LOXHD1 COL8A2
2 corneal dystrophy 31.5 ZEB1 VSX1 TGFBI TCF4 SLC4A11 LOXHD1
3 keratoconus 31.3 VSX1 TGFBI SLC4A11 COL8A2
4 irregular astigmatism 31.1 VSX1 TGFBI SLC4A11 COL8A2
5 corneal ectasia 31.0 VSX1 TGFBI COL8A2
6 secondary corneal edema 30.9 SLC4A11 LOXHD1 COL8A2
7 posterior corneal dystrophy 30.9 ZEB1 COL8A2
8 corneal dystrophy, posterior polymorphous, 1 30.8 ZEB1 VSX1 TGFBI SLC4A11 LOXHD1 COL8A2
9 corneal endothelial dystrophy 30.8 ZEB1 VSX1 TGFBI SLC4A11 LOXHD1 COL8A2
10 corneal dystrophy, posterior polymorphous, 2 30.7 ZEB1 VSX1 SLC4A11 COL8A2
11 corneal dystrophy, fuchs endothelial, 8 30.6 LOC102724452 AGBL1
12 corneal disease 30.5 ZEB1 VSX1 TGFBI SLC4A11 PITX2 LOXHD1
13 corneal dystrophy and perceptive deafness 30.5 VSX1 SLC4A11 LOXHD1 COL8A2 AQP1
14 intraocular pressure quantitative trait locus 30.4 ZEB1 PITX2 AQP1
15 interstitial keratitis 30.4 TGFBI COL8A2
16 corneal dystrophy, fuchs endothelial, 1 11.5
17 corneal dystrophy, fuchs endothelial, 5 11.2
18 cataract 10.6
19 astigmatism 10.6
20 bullous keratopathy 10.5
21 keratopathy 10.5
22 myotonic dystrophy 10.5
23 corneal dystrophy, endothelial, x-linked 10.5 VSX1 SLC4A11 COL8A2
24 epithelial and subepithelial dystrophy 10.4 TGFBI SLC4A11 COL8A2
25 corneal degeneration 10.4 VSX1 TGFBI SLC4A11 COL8A2
26 recurrent corneal erosion 10.4 TGFBI LINC00970 COL8A2
27 granular corneal dystrophy 10.4 TGFBI SLC4A11 COL8A2
28 corneal dystrophy, posterior polymorphous, 3 10.4 ZEB1 VSX1 SLC4A11 COL8A2
29 stromal dystrophy 10.4 TGFBI SLC4A11 COL8A2
30 osgood-schlatter's disease 10.4 VSX1 COL8A2
31 epithelial-stromal tgfbi dystrophy 10.4 TGFBI SLC4A11 COL8A2
32 corneal dystrophy, fleck 10.4 SLC4A11 LOXHD1 COL8A2
33 anterior segment dysgenesis 10.4 VSX1 TGFBI PITX2 COL8A2
34 corneal dystrophy, fuchs endothelial, 3 10.4
35 microvascular complications of diabetes 5 10.3
36 iridocorneal endothelial syndrome 10.3
37 corneal dystrophy, gelatinous drop-like 10.3 TGFBI COL8A2
38 corneal dystrophy, fuchs endothelial, 6 10.2
39 corneal dystrophy, fuchs endothelial, 2 10.2
40 regular astigmatism 10.2
41 myopia 10.2
42 senile cataract 10.2
43 refractive error 10.2
44 corneal dystrophy, meesmann, 1 10.2 TGFBI COL8A2
45 amyotrophic lateral sclerosis 1 10.2
46 fibrosis of extraocular muscles, congenital, 1 10.2
47 retinitis pigmentosa 10.2
48 kearns-sayre syndrome 10.2
49 alveolar soft part sarcoma 10.2
50 body mass index quantitative trait locus 1 10.2

Graphical network of the top 20 diseases related to Fuchs' Endothelial Dystrophy:



Diseases related to Fuchs' Endothelial Dystrophy

Symptoms & Phenotypes for Fuchs' Endothelial Dystrophy

MGI Mouse Phenotypes related to Fuchs' Endothelial Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 AGBL1 AQP1 BAX COL8A2 PITX2 SLC4A11

Drugs & Therapeutics for Fuchs' Endothelial Dystrophy

Drugs for Fuchs' Endothelial Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
2
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Loteprednol Approved, Experimental Phase 4 82034-46-6, 129260-79-3 9865442 444025
7
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
8 Protective Agents Phase 4
9 Gastrointestinal Agents Phase 4
10 Methylprednisolone Acetate Phase 4
11 glucocorticoids Phase 4
12 Neuroprotective Agents Phase 4
13 Hormone Antagonists Phase 4
14 Hormones Phase 4
15 Antineoplastic Agents, Hormonal Phase 4
16 Anti-Inflammatory Agents Phase 4
17 Antiemetics Phase 4
18 Anti-Allergic Agents Phase 4
19 Ophthalmic Solutions Phase 4
20
Fluorometholone Approved, Investigational Phase 2 426-13-1 9878
21
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
22
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
23
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
24
Cysteine Approved, Nutraceutical Phase 2 52-90-4 5862
25 BB 1101 Phase 2
26 Lubricant Eye Drops Phase 2
27 Antidotes Phase 2
28 Respiratory System Agents Phase 2
29 Antioxidants Phase 2
30 Expectorants Phase 2
31 N-monoacetylcystine Phase 2
32 Antiviral Agents Phase 2
33
Ketotifen Approved 34580-14-8, 34580-13-7 3827
34
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
35
Dipivefrin Approved 52365-63-6 3105
36 Estrogens

Interventional clinical trials:

(show top 50) (show all 60)
# Name Status NCT ID Phase Drugs
1 Prospective, Randomized Comparison of Corticosteroid Dosing Regimens Following Endothelial Keratoplasty Completed NCT01853696 Phase 4 loteprednol etabonate;prednisolone acetate 1%
2 Fuchs' Endothelial Dystrophy and Cataract Surgery: Can Torsional Phacoemulsification Decrease the Risk for Corneal Decompensation Completed NCT00781027 Phase 4
3 A Pilot Study For Efficacy And Safety Of Glanatec® Opthalmic Solution 0.4% On Corneal Edema And Endothelial Cell Counts In Subjects With Fuchs Endothelial Dystrophy Undergoing Descemet Stripping Without Endothelial Keratoplasty Recruiting NCT03249337 Phase 4 Ripasudil hydrochloride hydrate 0.4% ophthalmic solution
4 Prospective Randomized Study to Determine Whether Use of Rhopressa™ Can Ameliorate Corneal Edema Associated With Fuchs Dystrophy Completed NCT04051463 Phase 2, Phase 3 Netarsudil Ophthalmic Solution;Placebo
5 Randomized, Double-masked, Placebo-controlled Evaluation of Netarsudil for Prevention of Corticosteroid-induced Intraocular Pressure Elevation Completed NCT03248037 Phase 3 Netarsudil;Placebo
6 Prospective Randomized Study to Determine Whether Use of Rhopressa™ Accelerates Corneal Clearing After Removal of Descemet Membrane for Treatment of Fuchs Dystrophy Recruiting NCT03971357 Phase 2, Phase 3 Netarsudil;Placebo
7 A Randomized, Double-masked, Placebo-controlled Study of the Safety of Amphotericin 0.255 μg/mL in Optisol-GS Withdrawn NCT04018417 Phase 2, Phase 3 Amphotericin B
8 Prospective Single-centre Randomized Observer-blind Placebo-controlled Parallel-group Phase IIa Clinical Trial to Investigate the Safety and Efficacy of Ripasudil 0.4% Eye Drops After Descemetorhexis in Patients With Moderate to Advanced Fuchs Endothelial Corneal Dystrophy (FECD) Unknown status NCT03575130 Phase 2 Ripasudil eye drops;Optive eye drops
9 Comparison Of Two Corticosteroid Dosing Regimens For Prevention Of Corneal Transplant Rejection Episodes After Descemet's Membrane Endothelial Keratoplasty Completed NCT01448213 Phase 2 Prednisolone acetate;Fluorometholone
10 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone: Tolerance and Safety Pilot Study Completed NCT02834260 Phase 2 Dexamethasone implant OZURDEX
11 PART A: A PROSPECTIVE, RANDOMIZED, DOUBLE-MASKED, VEHICLE CONTROLLED, PAIRED-EYE PHASE 1/2 CLINICAL STUDY TO EVALUATE THE SAFETY, TOLERABILITY AND EFFICACY OF ELAMIPRETIDE TOPICAL OPHTHALMIC SOLUTION IN SUBJECTS WITH FCED PRESENTING WITH MILD TO MODERATE CORNEAL EDEMA PART B: A PROSPECTIVE, RANDOMIZED, DOUBLE-MASKED, VEHICLE CONTROLLED, PHASE 1/2 CLINICAL STUDY TO EVALUATE THE SAFETY, TOLERABILITY, AND EFFICACY OF ELAMIPRETIDE TOPICAL OPHTHALMIC SOLUTION IN SUBJECTS WITH FCED PRESENTING WITH MILD TO MODERATE CORNEAL EDEMA Completed NCT02653391 Phase 1, Phase 2 Elamipretide 1.0% Ophthalmic Solution;Elamipretide 3.0% Ophthalmic Solution
12 Targeting Reactive Oxygen Species Production as a Novel Therapeutic in Fuch's Endothelial Corneal Dystrophy Recruiting NCT04440280 Phase 2 N-acetyl cysteine (NAC) 10% solution;N-acetyl cysteine (NAC) 20% solution;Visine Dry Eye Relief eye drops
13 Assessment of Corneal Endothelial Function Following Hypoxic Stress Recruiting NCT04175938 Phase 1, Phase 2
14 A Double-Masked, Randomised, Placebo-Controlled, Parallel-Group, 12 Week, Phase 2 Study to Investigate the Safety and Efficacy of K-321 Eye Drops After Descemetorhexis in Patients With Fuchs Endothelial Corneal Dystrophy Recruiting NCT04250207 Phase 2 K-321 Solution;Placebo Solution
15 A Phase II, Interventional, Double-blind, Single-center Study of the Effects of Ripasudil on Cornea Clearing After Descemet Membrane Endothelial Keratoplasty in Subjects With Fuchs' Endothelial Corneal Dystrophy Recruiting NCT03813056 Phase 2 Glanatec;Optive, Ophthalmic Solution
16 A Randomized, Open-Label, Parallel-Group Study to Evaluate the Safety and Efficacy of Two Dosing Regimens of Netarsudil Ophthalmic Solution in Patients With Corneal Edema Due to Fuchs Corneal Dystrophy Recruiting NCT04498169 Phase 2 Netarsudil Ophthalmic;Netarsudil Ophthalmic
17 Phase 2 Study To Determine the Safety and Efficacy of TTHX1114(NM141) on the Regeneration and Migration of Corneal Endothelial Cells in Patients Undergoing DWEK/DSO Recruiting NCT04676737 Phase 2 TTHX1114(NM141)
18 A Phase 1/ Phase 2 Study Evaluating the Safety and Efficacy of the Investigational New Drug TTHX1114(NM141) on the Regeneration of Corneal Endothelial Cells in Patients With Corneal Endothelial Dystrophies Following Intracameral Delivery Recruiting NCT04520321 Phase 1, Phase 2 TTHX1114(NM141)
19 Phase 1 Clinical Study to Evaluate Safety and Tolerability of Magnetic Human Corneal Endothelial Cells in the Treatment of Corneal Edema Recruiting NCT04191629 Phase 1
20 Safety and Efficacy of Tissue Engineered Endothelial Keratoplasty (TE-EK) Recruiting NCT04319848 Phase 1
21 Prospective Clinical Study on Postoperative Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044
22 Evaluation of the Efficacy of Descemet Membrane Transplantation for the Treatment of Fuchs' Endothelial Dystrophy Unknown status NCT03275896 Early Phase 1
23 Air Versus SF6 for Descemet's Membrane Endothelial Keratoplasty (DMEK) Unknown status NCT03407755
24 DSAEK- Postoperative Positioning and Transplant Dislocation Unknown status NCT01206127
25 Prospective Randomized Study Comparing Endothelial Cell Loss Using the Tan EndoGlide With the Endoserter for Insertion of the Donor Graft in Descemets Stripping Endothelial Keratoplasty (DSAEK) Unknown status NCT01791075
26 In Vitro and Clinical Comparison of Corneal Grafts Cultured in Serum Free Medium or Standard Serum Supplemented Medium in Patients With Degeneration of the Corneal Endothelium Unknown status NCT00623584
27 A Study to Test the Diagnostic Potential of Brillouin Microscopy for Corneal Ectasia Unknown status NCT02118922
28 Open-enrollment, Prospective Study of Endothelial Keratoplasty Outcomes Completed NCT00800111
29 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250
30 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Completed NCT01795001
31 Combined Cataract Surgery and Planned Descemetorhexis Completed NCT02206594
32 Deep Lamellar Endothelial Keratoplasty as Surgical Treatment for Corneal Endothelial Decompensation Completed NCT00346138
33 ODM 5 in the Treatment of Corneal Edematous Fuchs' Endothelial Dystrophy Completed NCT02332109
34 Corneal Transplantation by DMEK - is it Really Better Than DSAEK? Completed NCT02793310
35 A Prospective, Randomized, Single Center Study Evaluating Use of Surgeon- and Eye Bank-prepared Donor Tissue for Descemet's Stripping and Endothelial Keratoplasty, a Type of Cornea Transplant Completed NCT00624221
36 Efficacy of Hyperosmolar Eye Drops in Diurnal Corneal Edema in Fuchs Endothelial Dystrophy: a Double Blind Randomized Controlled Trial Completed NCT04140422
37 Escala de Riesgo de descompensación Corneal en cirugía de Catarata en Pacientes Con Distrofia Corneal de Fuchs Completed NCT04072029
38 Netarsudil Use After Descemetorhexis Without Endothelial Keratoplasty Completed NCT04057053 Early Phase 1 Netarsudil 0.02% Ophthalmic Solution
39 Long Term Cornea Graft Survival Study (Étude Bisontine d'Estimation de la Survie à Long Terme à Partir Des données de Suivi Internes au CHRU : Evaluation Epidémiologie Clinique) Completed NCT02849808
40 Technique And Results Evaluation In Endothelial Keratoplasty Completed NCT02470793
41 Cornea Donor Study: The Effect of Donor Age on Penetrating Keratoplasty for Endothelial Disease Completed NCT00006411
42 Impact of Cataract Surgery on Keratoplasty Graft Survival Completed NCT02875145
43 Prospective Intraoperative and Perioperative Ophthalmic Imaging With Optical Coherence Tomography: PIONEER Study Completed NCT02423161
44 Comparison of Manual and Automated Techniques in Achieving Posterior Lamellar Transplantation of the Cornea Completed NCT01610973
45 Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S Recruiting NCT03974230
46 Association Between Fuchs' Endothelial Corneal Dystrophy Severity and Estrogen Exposure Recruiting NCT04564378
47 The Postoperative Head Position as a Predictor of the Surgical Outcome After DMEK Recruiting NCT04387331
48 Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following Descemet's Membrane Endothelial Keratoplasty Using Ultra-high Resolution Optical Coherence Tomography Recruiting NCT02542644
49 The ADVISE Study: Advanced Visualization In Corneal Surgery Evaluation Intra-operative Optical Coherence Tomography in Posterior Lamellar Keratoplasty Recruiting NCT03763721
50 Evaluating Corneal Edema in Fuchs' Endothelial Dystrophy Using Optical Coherence Tomography Recruiting NCT04258787

Search NIH Clinical Center for Fuchs' Endothelial Dystrophy

Cochrane evidence based reviews: fuchs' endothelial dystrophy

Genetic Tests for Fuchs' Endothelial Dystrophy

Genetic tests related to Fuchs' Endothelial Dystrophy:

# Genetic test Affiliating Genes
1 Fuchs Endothelial Corneal Dystrophy 29

Anatomical Context for Fuchs' Endothelial Dystrophy

MalaCards organs/tissues related to Fuchs' Endothelial Dystrophy:

40
Endothelial, Eye

Publications for Fuchs' Endothelial Dystrophy

Articles related to Fuchs' Endothelial Dystrophy:

(show top 50) (show all 911)
# Title Authors PMID Year
1
British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. 54 61 6
18024822 2007
2
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity. 61 6
29526280 2018
3
RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy. 61 6
25593321 2015
4
TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy. 6 61
25722209 2015
5
Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India. 6 61
26622166 2015
6
Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy. 6 61
25168903 2014
7
Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy. 6 61
24255041 2014
8
L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy. 6 61
23422828 2013
9
An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis. 61 6
22002996 2012
10
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 6 61
11689488 2001
11
Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 6
24094747 2013
12
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 6
20036349 2010
13
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 6
18464802 2009
14
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). 6
16767101 2006
15
Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. 6
15914606 2005
16
Inheritance of Fuchs' combined dystrophy. 6
399801 1979
17
Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. 54 61
20144242 2010
18
Genome-wide linkage scan in fuchs endothelial corneal dystrophy. 54 61
18502986 2009
19
No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. 54 61
16936088 2006
20
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. 61 54
15175909 2004
21
A Retrospective Study of Corneal Endothelial Dystrophy in Dogs (1991-2014). 61
32947393 2021
22
Case Series of Urrets-Zavalia Syndrome After Descemet Membrane Endothelial Keratoplasty. 61
33065714 2021
23
Rho kinase (ROCK) inhibitors in the management of corneal endothelial disease. 61
33606407 2021
24
[Keratoplasty in Germany: Systematic Analysis of the Quality Reports of German Hospitals between 2006 and 2017]. 61
31968370 2021
25
Descemet Stripping Only Supplemented With Topical Ripasudil for Fuchs Endothelial Dystrophy 12-Month Outcomes of the Sydney Eye Hospital Study. 61
32740006 2021
26
Focus on cell therapy to treat corneal endothelial diseases. 61
33493477 2021
27
Mitophagy: An Emerging Target in Ocular Pathology. 61
33724294 2021
28
Cell-Matrix Interactions in the Eye: From Cornea to Choroid. 61
33804633 2021
29
Fourier Analysis on Regular and Irregular Astigmatism of Anterior and Posterior Corneal Surfaces in Fuchs Endothelial Corneal Dystrophy. 61
33039376 2021
30
Relationship of Body Mass Index With Fuchs Endothelial Corneal Dystrophy Severity and TCF4 CTG18.1 Trinucleotide Repeat Expansion. 61
33782268 2021
31
One-Year Clinical Outcomes of Preloaded Descemet Membrane Endothelial Keratoplasty Versus Non-Preloaded Descemet Membrane Endothelial Keratoplasty. 61
32740011 2021
32
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. 61
33649486 2021
33
Pilot Study of Corneal Clearance With the Use of a Rho-Kinase Inhibitor After Descemetorhexis Without Endothelial Keratoplasty for Fuchs Endothelial Corneal Dystrophy. 61
33758139 2021
34
Peripheral-to-central ratio of Guttae: validity and reliability of an objective method to characterize severity of Fuchs endothelial corneal dystrophy. 61
33128674 2021
35
Descemet Membrane Endothelial Keratoplasty Using a Pull-Through Technique With Novel Infusion Forceps. 61
33290318 2021
36
TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease. 61
32735996 2021
37
Matrix metalloproteinases and their inhibitors in Fuchs endothelial corneal dystrophy. 61
33617849 2021
38
Toward a Paradigm Shift in the Therapeutic Approach to Fuchs Endothelial Corneal Dystrophy. 61
33599692 2021
39
Corneal Analysis with Swept Source Optical Coherence Tomography in Patients with Coexisting Cataract and Fuchs Endothelial Corneal Dystrophy. 61
33540847 2021
40
Fibrillar Layer as a Marker for Areas of Pronounced Corneal Endothelial Cell Loss in Advanced Fuchs Endothelial Corneal Dystrophy. 61
32971030 2021
41
Cost-effectiveness analysis of preloaded versus non-preloaded Descemet membrane endothelial keratoplasty for the treatment of Fuchs endothelial corneal dystrophy in an academic centre. 61
33637619 2021
42
Health Potential of Aloe vera against Oxidative Stress Induced Corneal Damage: An "In Vitro" Study. 61
33672553 2021
43
Radial Endothelial Striae Over 360 Degrees in Fuchs Corneal Endothelial Dystrophy: New Pathophysiological Findings. 61
33591033 2021
44
Real-World Outcomes of DMEK: A Prospective Dutch registry study. 61
32621899 2021
45
Cell cycle re-entry and arrest in G2/M phase induces senescence and fibrosis in Fuchs Endothelial Corneal Dystrophy. 61
33418109 2021
46
Real-time intraoperative ultrasound biomicroscopy for determining graft orientation during Descemet's membrane endothelial keratoplasty. 61
32578923 2021
47
Significance of Crosslinking Approaches in the Development of Next Generation Hydrogels for Corneal Tissue Engineering. 61
33671011 2021
48
Recovery of Contrast Sensitivity After Descemet Membrane Endothelial Keratoplasty. 61
33591041 2021
49
Wound Healing of Descemet Membrane After Penetrating Keratoplasty and Its Relevance for Descemet Membrane Endothelial Keratoplasty Surgeons. 61
33591039 2021
50
Bilateral Ultrathin Descemet's Stripping Automated Endothelial Keratoplasty vs. Bilateral Penetrating Keratoplasty in Fuchs' Dystrophy: Corneal Higher-Order Aberrations, Contrast Sensitivity and Quality of Life. 61
33546152 2021

Variations for Fuchs' Endothelial Dystrophy

ClinVar genetic disease variations for Fuchs' Endothelial Dystrophy:

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL8A2 NM_005202.4(COL8A2):c.1363C>A (p.Gln455Lys) SNV Pathogenic 17147 rs80358191 GRCh37: 1:36563919-36563919
GRCh38: 1:36098318-36098318
2 COL8A2 NM_005202.4(COL8A2):c.1349T>G (p.Leu450Trp) SNV Pathogenic 17148 rs80358192 GRCh37: 1:36563933-36563933
GRCh38: 1:36098332-36098332
3 SLC4A11 NM_001174089.2(SLC4A11):c.2078G>A (p.Gly693Glu) SNV Pathogenic 1320 rs267607064 GRCh37: 20:3209598-3209598
GRCh38: 20:3228952-3228952
4 SLC4A11 NM_001174089.2(SLC4A11):c.2213C>T (p.Thr738Met) SNV Pathogenic 1321 rs267607066 GRCh37: 20:3209333-3209333
GRCh38: 20:3228687-3228687
5 SLC4A11 NM_001174089.2(SLC4A11):c.49_50TC[1] (p.Pro18fs) Microsatellite Pathogenic 1322 rs1600618680 GRCh37: 20:3218226-3218227
GRCh38: 20:3237580-3237581
6 SLC4A11 NM_001174089.2(SLC4A11):c.1147G>A (p.Glu383Lys) SNV Pathogenic 1323 rs267607065 GRCh37: 20:3211600-3211600
GRCh38: 20:3230954-3230954
7 TCF4 NG_011716.2:g.54765TGC[(51_?)] Microsatellite Pathogenic 204360 GRCh37:
GRCh38:
8 TCF4 NM_001083962.2(TCF4):c.696del (p.Gly232_Met233insTer) Deletion Pathogenic 562214 rs1568622225 GRCh37: 18:52942943-52942943
GRCh38: 18:55275712-55275712
9 TCF4 NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp) SNV Pathogenic 620020 GRCh37: 18:52896252-52896252
GRCh38: 18:55229021-55229021
10 AGBL1 NM_152336.4(AGBL1):c.3107G>C (p.Cys1036Ser) SNV Pathogenic 88758 rs181958589 GRCh37: 15:87217553-87217553
GRCh38: 15:86674322-86674322
11 TCF4 NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) SNV Pathogenic 7372 rs121909122 GRCh37: 18:52921925-52921925
GRCh38: 18:55254694-55254694
12 COL8A2 NM_005202.4(COL8A2):c.1363_1364delinsGT (p.Gln455Val) Indel Pathogenic 167868 rs727504229 GRCh37: 1:36563918-36563919
GRCh38: 1:36098317-36098318
13 AGBL1 NM_001386094.1(AGBL1):c.466C>T (p.Arg156Ter) SNV Pathogenic 1033145 GRCh37: 15:86702235-86702235
GRCh38: 15:86159004-86159004
14 AGBL1 NM_001386094.1(AGBL1):c.2817+2T>C SNV Pathogenic 1033144 GRCh37: 15:87089366-87089366
GRCh38: 15:86546135-86546135
15 AGBL1 NM_001386094.1(AGBL1):c.1869del (p.Asp623fs) Deletion Pathogenic 1033143 GRCh37: 15:86813180-86813180
GRCh38: 15:86269949-86269949
16 AGBL1 NM_001386094.1(AGBL1):c.2255del (p.Leu752fs) Deletion Pathogenic 1029192 GRCh37: 15:86838520-86838520
GRCh38: 15:86295289-86295289
17 SLC4A11 NM_001174089.2(SLC4A11):c.2103G>A (p.Trp701Ter) SNV Pathogenic 1028420 GRCh37: 20:3209573-3209573
GRCh38: 20:3228927-3228927
18 AGBL1 NM_152336.4(AGBL1):c.3220C>T (p.Arg1074Ter) SNV Pathogenic 88757 rs185919705 GRCh37: 15:87217666-87217666
GRCh38: 15:86674435-86674435
19 AGBL1 , LOC102724452 NM_152336.4(AGBL1):c.3323+1G>A SNV Pathogenic 997623 GRCh37: 15:87531320-87531320
GRCh38: 15:86988089-86988089
20 ZEB1 NM_001174096.2(ZEB1):c.504del (p.Gln169fs) Deletion Likely pathogenic 1032236 GRCh37: 10:31799620-31799620
GRCh38: 10:31510692-31510692
21 TCF4 NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer) Duplication Likely pathogenic 828013 rs1600404795 GRCh37: 18:52924573-52924574
GRCh38: 18:55257342-55257343
22 AGBL1 NM_152336.4(AGBL1):c.985A>T (p.Thr329Ser) SNV Uncertain significance 932010 GRCh37: 15:86806024-86806024
GRCh38: 15:86262793-86262793
23 SLC4A11 NM_001174089.2(SLC4A11):c.20G>T (p.Arg7Leu) SNV Uncertain significance 1030273 GRCh37: 20:3219764-3219764
GRCh38: 20:3239118-3239118
24 ZEB1 NM_030751.6(ZEB1):c.233A>C (p.Asn78Thr) SNV Uncertain significance 12633 rs80194531 GRCh37: 10:31750140-31750140
GRCh38: 10:31461211-31461211
25 ZEB1 NM_030751.6(ZEB1):c.2519A>C (p.Gln840Pro) SNV Uncertain significance 12634 rs118020901 GRCh37: 10:31810782-31810782
GRCh38: 10:31521854-31521854
26 TCF4 NM_001083962.2(TCF4):c.785G>A (p.Arg262His) SNV Uncertain significance 548609 rs1555796645 GRCh37: 18:52942854-52942854
GRCh38: 18:55275623-55275623
27 TCF4 NM_001083962.2(TCF4):c.-21+2T>A SNV Uncertain significance 560270 rs1568471128 GRCh37: 18:53255267-53255267
GRCh38: 18:55588036-55588036

Expression for Fuchs' Endothelial Dystrophy

Search GEO for disease gene expression data for Fuchs' Endothelial Dystrophy.

Pathways for Fuchs' Endothelial Dystrophy

Pathways related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.54 PRDX6 PRDX3 PRDX2
2 10.32 PRDX3 PRDX2

GO Terms for Fuchs' Endothelial Dystrophy

Biological processes related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.54 PRDX6 PRDX3 PRDX2
2 regulation of mitochondrial membrane potential GO:0051881 9.43 PRDX3 BAX
3 cellular response to oxidative stress GO:0034599 9.43 PRDX6 PRDX3 PRDX2
4 release of cytochrome c from mitochondria GO:0001836 9.4 CLU BAX
5 cell redox homeostasis GO:0045454 9.33 PRDX6 PRDX3 PRDX2
6 homeostasis of number of cells GO:0048872 9.32 PRDX2 BAX
7 hydrogen peroxide catabolic process GO:0042744 9.13 PRDX6 PRDX3 PRDX2
8 cellular oxidant detoxification GO:0098869 8.92 PRDX6 PRDX3 PRDX2 LOXHD1

Molecular functions related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.87 TGFBI TCF4 PRDX6 PRDX3 PITX2 BAX
2 peroxidase activity GO:0004601 9.33 PRDX6 PRDX3 PRDX2
3 thioredoxin peroxidase activity GO:0008379 9.26 PRDX3 PRDX2
4 antioxidant activity GO:0016209 9.13 PRDX6 PRDX3 PRDX2
5 peroxiredoxin activity GO:0051920 8.8 PRDX6 PRDX3 PRDX2

Sources for Fuchs' Endothelial Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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