FCED
MCID: FCH001
MIFTS: 48

Fuchs' Endothelial Dystrophy (FCED)

Categories: Eye diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Fuchs' Endothelial Dystrophy

MalaCards integrated aliases for Fuchs' Endothelial Dystrophy:

Name: Fuchs' Endothelial Dystrophy 12 25 44 15
Fuchs Endothelial Corneal Dystrophy 53 25 59 29
Late Hereditary Endothelial Dystrophy 53 59
Endoepithelial Corneal Dystrophy 53 59
Fuchs Endothelial Dystrophy 25 72
Fuchs Corneal Dystrophy 25 37
Fecd 53 59
Corneal Dystrophy, Fuchs' Endothelial, 1 72
Dystrophy, Corneal, Fuchs Endothelial 40
Fuchs' Endothelial Corneal Dystrophy 12
Corneal Dystrophy, Fuchs Endothelial 55
Fuchs' Corneal Dystrophy 12
Fuchs Dystrophy 25
Fuchs Atrophy 25
Fced 12

Characteristics:

Orphanet epidemiological data:

59
fuchs endothelial corneal dystrophy
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:11555
KEGG 37 H00960
MeSH 44 D005642
NCIt 50 C84721
SNOMED-CT 68 16949007
ICD10 33 H18.51
ICD10 via Orphanet 34 H18.5
UMLS via Orphanet 73 C0016781
Orphanet 59 ORPHA98974
UMLS 72 C0016781 C1850959

Summaries for Fuchs' Endothelial Dystrophy

NIH Rare Diseases : 53 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 endothelial dystrophy and corneal dystrophy, posterior polymorphous, 3. An important gene associated with Fuchs' Endothelial Dystrophy is COL8A2 (Collagen Type VIII Alpha 2 Chain), and among its related pathways/superpathways are DNA Damage Response (only ATM dependent) and Nanomaterial induced apoptosis. The drugs Prednisolone phosphate and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and testes, and related phenotypes are immune system and 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.

Genetics Home Reference : 25 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 : 37
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 79)
# Related Disease Score Top Affiliating Genes
1 corneal endothelial dystrophy 31.2 TGFBI SLC4A11 COL8A2
2 corneal dystrophy, posterior polymorphous, 3 30.9 ZEB1 VSX1 SLC4A11 COL8A2
3 corneal dystrophy, posterior polymorphous, 2 30.8 ZEB1 VSX1 SLC4A11 COL8A2
4 corneal dystrophy, posterior polymorphous, 1 30.8 ZEB1 VSX1 TGFBI SLC4A11 COL8A2
5 corneal dystrophy 30.6 ZEB1 VSX1 TGFBI TCF4 SLC4A11 LOXHD1
6 corneal disease 30.6 ZEB1 VSX1 TGFBI SLC4A11 COL8A2 AGBL1
7 corneal dystrophy, fuchs endothelial, 1 11.9
8 corneal dystrophy, fuchs endothelial, 5 11.8
9 corneal edema 10.7
10 astigmatism 10.6
11 cataract 10.6
12 intratubular embryonal carcinoma 10.6 TCF4 KRT20
13 corneal dystrophy, endothelial, x-linked 10.6 VSX1 SLC4A11
14 cartilage-hair hypoplasia 10.6 FASLG BCL2 BAX
15 corneal dystrophy, thiel-behnke type 10.6 TGFBI SLC4A11 COL8A2
16 kashin-beck disease 10.6 BCL2 BAX
17 anterior segment dysgenesis 10.6 VSX1 TGFBI PITX2
18 bullous keratopathy 10.6
19 keratopathy 10.6
20 myotonic dystrophy 10.5
21 myotonia atrophica 10.5
22 bile duct adenoma 10.5 MUC1 KRT20
23 keratoconus 10.5
24 bile duct cystadenocarcinoma 10.4 MUC1 KRT20
25 corneal dystrophy, fuchs endothelial, 3 10.4
26 malignant teratoma 10.4 BCL2 BAX
27 adamantinoma of long bones 10.4 ZEB1 PITX2 BCL2 BAX
28 microvascular complications of diabetes 5 10.3
29 hydrops, lactic acidosis, and sideroblastic anemia 10.3
30 irregular astigmatism 10.3
31 gastric adenocarcinoma 10.3 MUC1 KRT20 FASLG BCL2 BAX
32 corneal dystrophy, fuchs endothelial, 6 10.3
33 large intestine cancer 10.3 ZEB1 MUC1 KRT20 FASLG
34 corneal dystrophy and perceptive deafness 10.2
35 corneal dystrophy, fuchs endothelial, 2 10.2
36 regular astigmatism 10.2
37 corneal ectasia 10.2
38 senile cataract 10.2
39 refractive error 10.2
40 corneal degeneration 10.2 VSX1 TGFBI
41 amyotrophic lateral sclerosis 1 10.2
42 retinitis pigmentosa 10.2
43 kearns-sayre syndrome 10.2
44 alveolar soft part sarcoma 10.2
45 pitt-hopkins syndrome 10.2
46 helix syndrome 10.2
47 neuroretinitis 10.2
48 secondary corneal edema 10.2
49 lateral sclerosis 10.2
50 retinitis 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 immune system MP:0005387 9.7 AGBL1 BAX BCL2 CLU FASLG PITX2
2 vision/eye MP:0005391 9.28 BAX BCL2 COL8A2 FASLG PITX2 SLC4A11

Drugs & Therapeutics for Fuchs' Endothelial Dystrophy

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

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
7 Anti-Allergic Agents Phase 4
8 Antiemetics Phase 4
9 Anti-Inflammatory Agents Phase 4
10 glucocorticoids Phase 4
11 Gastrointestinal Agents Phase 4
12 Hormones Phase 4
13 Neuroprotective Agents Phase 4
14 Methylprednisolone Acetate Phase 4
15 Peripheral Nervous System Agents Phase 4
16 Antineoplastic Agents, Hormonal Phase 4
17 Protective Agents Phase 4
18 Hormone Antagonists Phase 4
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
20 Prednisolone acetate Phase 4
21 Autonomic Agents Phase 4
22 Ophthalmic Solutions Phase 4
23
Fluorometholone Approved, Investigational Phase 2 426-13-1 9878
24
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
25
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
26 HIV Protease Inhibitors Phase 2
27
protease inhibitors Phase 2
28 BB 1101 Phase 2
29 Lubricant Eye Drops Phase 2
30
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
31
Docetaxel Approved, Investigational 114977-28-5 148124
32
Tamoxifen Approved 10540-29-1 2733526
33
Fluorouracil Approved 51-21-8 3385
34
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
35
Letrozole Approved, Investigational 112809-51-5 3902
36
Anastrozole Approved, Investigational 120511-73-1 2187
37
Ketotifen Approved 34580-13-7, 34580-14-8 3827
38
Dipivefrin Approved 52365-63-6 3105
39 Immunologic Factors
40 Adjuvants, Immunologic
41 Viscosupplements

Interventional clinical trials:

(show top 50) (show all 52)
# 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 Intrastromal Corneal Ring Segment Implantation for High Astigmatism on Postkeratoplasty Eyes Completed NCT01018797 Phase 4
4 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
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™ Can Ameliorate Corneal Edema Associated With Fuchs Dystrophy Recruiting NCT04051463 Phase 2, Phase 3 Netarsudil Ophthalmic Solution;Placebo
7 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
8 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
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 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
13 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) Recruiting NCT03575130 Phase 2 Ripasudil eye drops;Optive eye drops
14 Prospective Clinical Study on Postoperative Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044
15 Early Experience With Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK) in Patients With Corneal Endothelial Cell Dysfunction: Clinical Outcomes and Diagnostic Imaging Analysis Unknown status NCT00744796
16 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
17 Cornea Donor Study Unknown status NCT00006411
18 DSAEK- Postoperative Positioning and Transplant Dislocation Unknown status NCT01206127
19 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
20 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Completed NCT01795001
21 Combined Cataract Surgery and Planned Descemetorhexis Completed NCT02206594
22 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250
23 Corneal Transplantation by DMEK - is it Really Better Than DSAEK? Completed NCT02793310
24 Open-enrollment, Prospective Study of Endothelial Keratoplasty Outcomes Completed NCT00800111
25 ODM 5 in the Treatment of Corneal Edematous Fuchs' Endothelial Dystrophy Completed NCT02332109
26 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
27 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
28 Impact of Cataract Surgery on Keratoplasty Graft Survival Completed NCT02875145
29 Prospective Intraoperative and Perioperative Ophthalmic Imaging With Optical Coherence Tomography: PIONEER Study Completed NCT02423161
30 The Effect of Hydrodynamic Parameters on Corneal Endothelial Cell Loss After Phacoemulsification Completed NCT00370955
31 Comparison of Manual and Automated Techniques in Achieving Posterior Lamellar Transplantation of the Cornea Completed NCT01610973
32 Deep Lamellar Endothelial Keratoplasty as Surgical Treatment for Corneal Endothelial Decompensation Completed NCT00346138
33 Study of the Efficiency and Workflow of Femtosecond Laser Assisted Cataract Surgery in a Spanish Public Hospital Completed NCT03931629
34 Relationship Between Preoperative Corneal Thickness and Postoperative Completed NCT03355911
35 Impact of Graft Thickness on Visual Gain After Descemet's Stripping Automated Endothelial Keratoplasty Completed NCT02883855
36 Factors Affecting Corneal Hysteresis in Taiwanese Completed NCT01235780
37 To Investigate the Precision and Agreement of SS-1000 and the Predicate Device Pentacam in a Repeatability and Reproducibility Trial (PASP) Completed NCT02077790
38 Predictive Modelling of Short Term Outcomes Following Systemic Neo-adjuvant and Adjuvant Therapy in Breast Cancer Patients Completed NCT01563211
39 Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S Recruiting NCT03974230
40 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
41 Air Versus SF6 for Descemet's Membrane Endothelial Keratoplasty (DMEK) Recruiting NCT03407755
42 Technique And Results Evaluation In Endothelial Keratoplasty Recruiting NCT02470793
43 A Study to Test the Diagnostic Potential of Brillouin Microscopy for Corneal Ectasia Recruiting NCT02118922
44 Evaluation of the Efficacy of Descemet Membrane Transplantation for the Treatment of Fuchs' Endothelial Dystrophy Recruiting NCT03275896 Early Phase 1
45 Netarsudil Use After Descemetorhexis Without Endothelial Keratoplasty Recruiting NCT04057053 Early Phase 1 Netarsudil 0.02% Ophthalmic Solution
46 The ADVISE Study: Advanced Visualization In Corneal Surgery Evaluation Intra-operative Optical Coherence Tomography in Posterior Lamellar Keratoplasty Recruiting NCT03763721
47 Novel Diagnostics With Optical Coherence Tomography: Imaging of the Anterior Eye Recruiting NCT00343473
48 Determination of Feasibility of Intraoperative Spectral Domain Microscope Combined/Integrated OCT Visualization During En Face Retinal and Ophthalmic Surgery: DISCOVER Study Recruiting NCT02423213
49 Pilot Study of Femtolaser Assisted Keratoplasty Versus Conventional Keratoplasty Recruiting NCT03619434
50 Randomized Clinical Trial of OCT-guided DSAEK Graft Shaping and Smoothing Terminated NCT01586234

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:

41
Endothelial, Eye, Testes, Breast

Publications for Fuchs' Endothelial Dystrophy

Articles related to Fuchs' Endothelial Dystrophy:

(show top 50) (show all 769)
# Title Authors PMID Year
1
British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. 9 38 71
18024822 2007
2
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity. 38 71
29526280 2018
3
RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy. 38 71
25593321 2015
4
TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy. 38 71
25722209 2015
5
Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India. 38 71
26622166 2015
6
Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy. 38 71
25168903 2014
7
Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy. 38 71
24255041 2014
8
L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy. 38 71
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. 38 71
22002996 2012
10
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 38 71
11689488 2001
11
Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 71
24094747 2013
12
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 71
20036349 2010
13
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 71
18464802 2009
14
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). 71
16767101 2006
15
Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. 71
15914606 2005
16
Inheritance of Fuchs' combined dystrophy. 71
399801 1979
17
Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. 9 38
20144242 2010
18
Genome-wide linkage scan in fuchs endothelial corneal dystrophy. 9 38
18502986 2009
19
No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. 9 38
16936088 2006
20
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. 9 38
15175909 2004
21
Five-Year Outcomes of Ultrathin Descemet Stripping Automated Endothelial Keratoplasty. 38
31246680 2019
22
Corneal Densitometry After Secondary Descemet Membrane Endothelial Keratoplasty. 38
31206397 2019
23
Dataset on transcriptome profiling of corneal endothelium from patients with Fuchs endothelial corneal dystrophy. 38
31205988 2019
24
Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family. 38
31420327 2019
25
In Vitro Evaluation of the Feasibility of Slit-Lamp Nd: YAG Laser Descemetorhexis. 38
31436636 2019
26
Anterior Chamber Rebubbling With Perfluoropropane (C3F8) After Failed Rebubbling Attempts for Persistent Descemet Membrane Endothelial Keratoplasty Graft Detachments. 38
31107285 2019
27
Changes in Corneal Biomechanical Properties After Descemet Membrane Endothelial Keratoplasty. 38
31169608 2019
28
Fuchs' endothelial dystrophy masquerading as keratoconus. 38
31358161 2019
29
Diurnal variation in corneal edema in Fuchs' Endothelial Corneal Dystrophy. 38
31415734 2019
30
Indications and techniques of corneal transplantation in a referral center in Colombia, South America (2012-2016). 38
30047076 2019
31
Corneal biomechanics and intraocular pressure assessment after penetrating keratoplasty for non keratoconic patients, long term results. 38
31391006 2019
32
The future of keratoplasty: cell-based therapy, regenerative medicine, bioengineering keratoplasty, gene therapy. 38
31045881 2019
33
Endothelial keratoplasty for corneal endothelial dystrophy in a dog. 38
30972947 2019
34
Corneal Higher-Order Aberrations in Descemet Membrane Endothelial Keratoplasty versus Ultrathin DSAEK in the Descemet Endothelial Thickness Comparison Trial: A Randomized Clinical Trial. 38
30776384 2019
35
Characteristics of preoperative and postoperative astigmatism in patients having Descemet membrane endothelial keratoplasty. 38
31262462 2019
36
[The German version of the Visual Function and Corneal Health Status (V‑FUCHS): a Fuchs dystrophy-specific visual disability instrument]. 38
31342164 2019
37
Effect of Graft Attachment Status and Intraocular Pressure on Descemet Stripping Automated Endothelial Keratoplasty Outcomes in the Cornea Preservation Time Study. 38
30849341 2019
38
Graft Survival After Penetrating and Endothelial Keratoplasty in Iridocorneal Endothelial Syndrome. 38
31335531 2019
39
Favourable outcome after late reorientation of an upside-down Descemet Membrane Endothelial Keratoplasty (DMEK) graft: a case report. 38
31357966 2019
40
Human Corneal Expression of SLC4A11, a Gene Mutated in Endothelial Corneal Dystrophies. 38
31273259 2019
41
Three-Year Outcome Comparison Between Femtosecond Laser-Assisted and Manual Descemet Membrane Endothelial Keratoplasty. 38
30973405 2019
42
Correlation of extracellular matrix-related gene expression with objective Fuchs endothelial corneal dystrophy severity. 38
30578652 2019
43
Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy. 38
30973406 2019
44
Preoperative risk assessment for progression to DMEK following cataract surgery in Fuchs Endothelial Corneal Dystrophy. 38
31369719 2019
45
Activation of PINK1-Parkin-Mediated Mitophagy Degrades Mitochondrial Quality Control Proteins in Fuchs Endothelial Corneal Dystrophy. 38
31361992 2019
46
Fuchs endothelial corneal dystrophy and corneal endothelial diseases: East meets West. 38
31267087 2019
47
Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy. 38
31206232 2019
48
Impact of donor tissue diameter on postoperative central endothelial cell density in Descemet Membrane Endothelial Keratoplasty. 38
30318740 2019
49
The learning curve for Descemet membrane endothelial keratoplasty performed by two experienced corneal surgeons: a consecutive series of 40 cases. 38
31161732 2019
50
[Therapeutic Options in Endothelial Decompensation Following Glaucoma Surgery]. 38
31075807 2019

Variations for Fuchs' Endothelial Dystrophy

Expression for Fuchs' Endothelial Dystrophy

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

Pathways for Fuchs' Endothelial Dystrophy

GO Terms for Fuchs' Endothelial Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 pore complex GO:0046930 8.62 BCL2 BAX

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.91 PRDX3 KRT20 FASLG CLU BCL2 BAX
2 cytokine-mediated signaling pathway GO:0019221 9.83 ZEB1 MUC1 FASLG BCL2
3 cellular oxidant detoxification GO:0098869 9.67 PRDX3 PRDX2 LOXHD1
4 B cell homeostasis GO:0001782 9.56 BCL2 BAX
5 apoptotic mitochondrial changes GO:0008637 9.55 BCL2 BAX
6 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:1902166 9.54 MUC1 BCL2
7 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.54 FASLG BCL2 BAX
8 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.51 BCL2 BAX
9 regulation of mitochondrial membrane potential GO:0051881 9.5 PRDX3 BCL2 BAX
10 regulation of protein heterodimerization activity GO:0043497 9.48 BCL2 BAX
11 regulation of protein homodimerization activity GO:0043496 9.46 BCL2 BAX
12 leukocyte homeostasis GO:0001776 9.4 BCL2 BAX
13 retinal cell programmed cell death GO:0046666 9.26 FASLG BAX
14 regulation of nitrogen utilization GO:0006808 9.16 BCL2 BAX
15 positive regulation of developmental pigmentation GO:0048087 8.96 BCL2 BAX
16 release of cytochrome c from mitochondria GO:0001836 8.8 CLU BCL2 BAX

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

# Name GO ID Score Top Affiliating Genes
1 peroxiredoxin activity GO:0051920 9.16 PRDX3 PRDX2
2 thioredoxin peroxidase activity GO:0008379 8.96 PRDX3 PRDX2
3 BH3 domain binding GO:0051434 8.62 BCL2 BAX

Sources for Fuchs' Endothelial Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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