FCED
MCID: FCH001
MIFTS: 46

Fuchs' Endothelial Dystrophy (FCED) malady

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Fuchs' Endothelial Dystrophy

Aliases & Descriptions for Fuchs' Endothelial Dystrophy:

Name: Fuchs' Endothelial Dystrophy 12 25 42 14
Fuchs Endothelial Corneal Dystrophy 50 24 25 56 29
Fecd 50 24 56
Late Hereditary Endothelial Dystrophy 50 56
Endoepithelial Corneal Dystrophy 50 56
Fuchs Endothelial Dystrophy 25 69
Fuchs Dystrophy 25 52
Corneal Dystrophy, Fuchs' Endothelial, 1 69
Fuchs' Endothelial Corneal Dystrophy 12
Corneal Dystrophy, Fuchs Endothelial 52
Fuchs' Corneal Dystrophy 12
Fuchs Corneal Dystrophy 25
Fuchs Atrophy 25
Fced 12

Characteristics:

Orphanet epidemiological data:

56
fuchs endothelial corneal dystrophy
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:11555
ICD10 33 H18.51
MeSH 42 D005642
NCIt 47 C84721
Orphanet 56 ORPHA98974
ICD10 via Orphanet 34 H18.5
UMLS 69 C0016781

Summaries for Fuchs' Endothelial Dystrophy

NIH Rare Diseases : 50 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. last updated: 2/3/2016

MalaCards based summary : Fuchs' Endothelial Dystrophy, also known as fuchs endothelial corneal dystrophy, is related to corneal dystrophy, fuchs endothelial, 3 and corneal dystrophy, fuchs endothelial, 1. 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 Interleukin-4 and 13 signaling. The drugs Prednisolone and Loteprednol have been mentioned in the context of this disorder. Affiliated tissues include endothelial and eye, and related phenotypes are immune system and respiratory system

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.

Related Diseases for Fuchs' Endothelial Dystrophy

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.85 BAX BCL2 CLU FASLG PITX2 PRDX2
2 respiratory system MP:0005388 9.5 BAX BCL2 FASLG PITX2 PRDX3 PRDX6
3 vision/eye MP:0005391 9.32 VSX1 ZEB1 BAX BCL2 COL8A2 FASLG

Drugs & Therapeutics for Fuchs' Endothelial Dystrophy

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

(show all 33)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone Approved, Vet_approved Phase 4,Phase 2 50-24-8 5755
2
Loteprednol Approved Phase 4 82034-46-6, 129260-79-3 444025 9865442
3
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2 83-43-2 6741
4 Prednisolone acetate Phase 4,Phase 2
5 glucocorticoids Phase 4,Phase 2
6 Gastrointestinal Agents Phase 4,Phase 2
7 Neuroprotective Agents Phase 4,Phase 2
8 Hormone Antagonists Phase 4,Phase 2
9 Ophthalmic Solutions Phase 4,Phase 1,Phase 2
10 Hormones Phase 4,Phase 2
11 Peripheral Nervous System Agents Phase 4,Phase 2
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
13 Anti-Allergic Agents Phase 4,Phase 2
14 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1
15 Prednisolone hemisuccinate Phase 4,Phase 2
16 Prednisolone phosphate Phase 4,Phase 2
17 Protective Agents Phase 4,Phase 2
18 Antiemetics Phase 4,Phase 2
19 Anti-Inflammatory Agents Phase 4,Phase 2
20 Methylprednisolone acetate Phase 4,Phase 2
21 Methylprednisolone Hemisuccinate Phase 4,Phase 2
22 Autonomic Agents Phase 4,Phase 2
23 Antineoplastic Agents, Hormonal Phase 4,Phase 2
24
Fluorometholone Approved Phase 2 426-13-1 9878
25
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
26 Dexamethasone acetate Phase 2 1177-87-3
27
protease inhibitors Phase 2
28 HIV Protease Inhibitors Phase 2
29 Dexamethasone 21-phosphate Phase 2
30 BB 1101 Phase 2
31
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741 24759
32 Adjuvants, Immunologic
33 Viscosupplements

Interventional clinical trials:

(show all 33)
id Name Status NCT ID Phase
1 Evaluating Results of Neusidl Corneal Inserter in Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT01357122 Phase 4
2 Fuchs' Torsional Phaco Study Completed NCT00781027 Phase 4
3 Comparison of Corticosteroid Dosing Regimens After Endothelial Keratoplasty Completed NCT01853696 Phase 4
4 Intrastromal Corneal Ring for High Astigmatism on Postkeratoplasty Completed NCT01018797 Phase 4
5 Comparison of Two Steroid Regimens to Prevent Transplant Rejection After Corneal Transplant (DMEK) Completed NCT01448213 Phase 2
6 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone : Tolerance and Safety Pilot Study Recruiting NCT02834260 Phase 2
7 A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide Topical Ophthalmic Solution for the Treatment of Fuchs' Corneal Endothelial Dystrophy (FCED) Active, not recruiting NCT02653391 Phase 1, Phase 2
8 Comparison of Corneal Grafts Cultured in Serum-free Versus Corneal Grafts Cultured in Serum Supplemented Culture Media Unknown status NCT00623584
9 Comparing Endoglide to Endoserter for DSAEK Graft Insertion Unknown status NCT01791075
10 Cornea Donor Study Unknown status NCT00006411
11 Early Experience With Descemet's Stripping Automated Endothelial Keratoplasty Unknown status NCT00744796
12 Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044
13 ODM 5 in the Treatment of Corneal Edematous Fuchs' Endothelial Dystrophy Completed NCT02332109
14 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250
15 Comparison of Two Techniques in Achieving Corneal Graft Completed NCT01610973
16 Combined Cataract Surgery and Planned Descemetorhexis Completed NCT02206594
17 Study of Eye Bank Pre-cut Donor Grafts for Endothelial Keratoplasty Completed NCT00624221
18 Impact of Cataract Surgery on Keratoplasty Graft Survival Completed NCT02875145
19 A Comparison Between Full Thickness and Partial Thickness Corneal Transplantation for Corneal Edema Completed NCT00346138
20 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Recruiting NCT01795001
21 Technique And Results In Endothelial Keratoplasty Recruiting NCT02470793
22 Long Term Cornea Graft Survival Study Recruiting NCT02849808
23 DSAEK- Postoperative Positioning and Transplant Dislocation Recruiting NCT01206127
24 Study of Endothelial Keratoplasty Outcomes Recruiting NCT00800111
25 DISCOVER Study: Microscope-integrated Intraoperative OCT Study Recruiting NCT02423213
26 Novel Diagnostics With Optical Coherence Tomography: Imaging the Anterior Eye Active, not recruiting NCT00343473
27 PIONEER: Intraoperative and Perioperative OCT Study Active, not recruiting NCT02423161
28 Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following DMEK Using Ultra-high Resolution OCT Not yet recruiting NCT02542644
29 DMEK Versus DSAEK Study Not yet recruiting NCT02793310
30 OCT-guided DSAEK Graft Shaping and Smoothing Suspended NCT01586234
31 Using the Optovue OCT to Select IOL Power Terminated NCT01361282
32 Study of the Effect of Aspheric Lenses in Patients With Fuch's Dystrophy Withdrawn NCT02109276
33 Specular Microscopy Study Withdrawn NCT02478970

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:

id Genetic test Affiliating Genes
1 Fuchs Endothelial Corneal Dystrophy 29 24

Anatomical Context for Fuchs' Endothelial Dystrophy

MalaCards organs/tissues related to Fuchs' Endothelial Dystrophy:

39
Endothelial, Eye

Publications for Fuchs' Endothelial Dystrophy

Articles related to Fuchs' Endothelial Dystrophy:

(show top 50) (show all 71)
id Title Authors Year
1
Existence of Neural Crest-Derived Progenitor Cells in Normal and Fuchs Endothelial Dystrophy Corneal Endothelium. ( 27639969 )
2016
2
Treatment of Fuchs Endothelial Dystrophy by Descemet Stripping Without Endothelial Keratoplasty. ( 27310885 )
2016
3
Descemet Stripping Automated Endothelial Keratoplasty in Fuchs' Endothelial Dystrophy versus Pseudophakic Bullous Keratopathy. ( 27994806 )
2016
4
Changes in Corneal Densitometry in Patients with Fuchs Endothelial Dystrophy after Endothelial Keratoplasty. ( 27260144 )
2016
5
Case Report of Quarter-Descemet Membrane Endothelial Keratoplasty for Fuchs Endothelial Dystrophy. ( 27583798 )
2016
6
Interface Fluid Syndrome After Laser In Situ Keratomileusis (LASIK) Because of Fuchs Endothelial Dystrophy Reversed by Descemet Membrane Endothelial Keratoplasty (DMEK). ( 27490052 )
2016
7
Preliminary outcome of hemi-Descemet membrane endothelial keratoplasty for Fuchs endothelial dystrophy. ( 26837507 )
2016
8
Corneal Densitometry, Central Corneal Thickness, and Corneal Central-to-Peripheral Thickness Ratio in Patients With Fuchs Endothelial Dystrophy. ( 26655484 )
2016
9
Evaluation of Endothelial Pump Function in Fuchs Endothelial Dystrophy Before and After Endothelial Keratoplasty. ( 27055221 )
2016
10
Changes in Corneal Refractive Power for Patients With Fuchs Endothelial Dystrophy After DMEK. ( 27055217 )
2016
11
Descemet's Stripping Automated Endothelial Keratoplasty versus Descemet's Membrane Endothelial Keratoplasty in the Fellow Eye for Fuchs Endothelial Dystrophy: A Retrospective Study. ( 26636101 )
2015
12
The pathophysiology of Fuchs' endothelial dystrophy--a review of molecular and cellular insights. ( 25446318 )
2015
13
Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. ( 26087656 )
2015
14
Vision with Fuchs endothelial dystrophy. ( 25856653 )
2015
15
Patients with Fuchs Endothelial Dystrophy and Cataract Undergoing Descemet Stripping Automated Endothelial Keratoplasty and Phacoemulsification with Intraocular Lens Implant: Staged versus Combined Procedure Outcomes. ( 26064669 )
2015
16
Unusual Histopathological Views of Fuchs' Endothelial Dystrophy. ( 26498080 )
2015
17
Impact of donor characteristics on 2-year Descemet stripping automated endothelial keratoplasty outcomes in patients with Fuchs endothelial dystrophy. ( 25393091 )
2015
18
Corneal Abnormalities Early in the Course ofA Fuchs' Endothelial Dystrophy. ( 25156138 )
2014
19
Outcome of Two Corneal Collagen Crosslinking Methods in Bullous Keratopathy due to Fuchs' Endothelial Dystrophy. ( 25484904 )
2014
20
A retrospective study of the association between Fuchs' endothelial dystrophy and glaucoma. ( 25378902 )
2014
21
Objective assessment of the corneal endothelium in Fuchs' endothelial dystrophy. ( 24508788 )
2014
22
Vision-related Quality of Life Before and After Keratoplasty for Fuchs' Endothelial Dystrophy. ( 25015214 )
2014
23
Retained Descemet's membrane following penetrating keratoplasty for Fuchs' endothelial dystrophy: a case report of a post-operative complication. ( 23901260 )
2013
24
Intraocular pressure and corneal biomechanics in Fuchs' endothelial dystrophy and after posterior lamellar keratoplasty. ( 23607620 )
2013
25
Corneal haze in course of Fuchs' endothelial dystrophy. ( 23007820 )
2012
26
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. ( 22234156 )
2012
27
Anterior corneal aberrations after Descemet's stripping endothelial keratoplasty for Fuchs' endothelial dystrophy. ( 22480739 )
2012
28
In vivo confocal microscopy of combined pre-descemet membrane corneal dystrophy and fuchs endothelial dystrophy. ( 20847662 )
2011
29
Persistent corneal edema after descemetorhexis without corneal graft implantation in a case of fuchs endothelial dystrophy. ( 21045656 )
2011
30
Descemet's stripping with endothelial keratoplasty for special Fuchs' endothelial dystrophy in phakic eyes. ( 21212708 )
2011
31
Combined anterior keratoconus and Fuchs' endothelial dystrophy: a report of two cases. ( 20597912 )
2010
32
Approaching cataract surgery in patients with fuchs' endothelial dystrophy. ( 20057291 )
2010
33
Descemet's stripping automated endothelial keratoplasty and penetrating keratoplasty for Fuchs' endothelial dystrophy. ( 19302079 )
2009
34
[Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]. ( 19507099 )
2009
35
Fuchs' endothelial dystrophy in 830-nm spectral domain optical coherence tomography. ( 19320314 )
2009
36
Simultaneous phacoemulsification and DSEK in patients with concomitant cataract and bullous keratopathy due to Fuchs endothelial dystrophy. ( 18812092 )
2008
37
Decreased expression of peroxiredoxins in Fuchs' endothelial dystrophy. ( 18378575 )
2008
38
Posterior mushroom keratoplasty in patients with Fuchs endothelial dystrophy and pseudophakic bullous keratopathy: transplant outcome. ( 18580259 )
2008
39
Increased clusterin expression in Fuchs' endothelial dystrophy. ( 18378577 )
2008
40
Effectiveness of the soft-shell technique in patients with Fuchs' endothelial dystrophy. ( 17964396 )
2007
41
Epithelial metaplasia of the corneal endothelium in Fuchs endothelial dystrophy. ( 17102674 )
2006
42
Potential complications of ocular surgery in patients with coexistent keratoconus and Fuchs' endothelial dystrophy. ( 16996603 )
2006
43
Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy. ( 17057173 )
2006
44
A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. ( 16876867 )
2006
45
Laser in situ keratomileusis in patients with corneal guttata and family history of Fuchs' endothelial dystrophy. ( 16473218 )
2005
46
Cataract extraction in eyes with Fuchs' endothelial dystrophy in China. ( 16098269 )
2005
47
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. ( 15175909 )
2004
48
Corneal decompensation after laser in situ keratomileusis in fuchs' endothelial dystrophy. ( 12792486 )
2003
49
Mechanisms of disease: Fuchs' endothelial dystrophy. ( 12064077 )
2002
50
The role of apoptosis in the pathogenesis of Fuchs endothelial dystrophy of the cornea. ( 11709009 )
2001

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:

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

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.87 BAX BCL2 CLU FASLG KRT20 PRDX3
2 male gonad development GO:0008584 9.75 BAX BCL2 PITX2
3 cellular oxidant detoxification GO:0098869 9.72 PRDX3 PRDX5 PRDX6
4 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.67 BAX BCL2 FASLG
5 cellular response to oxidative stress GO:0034599 9.67 PRDX2 PRDX3 PRDX5 PRDX6
6 regulation of mitochondrial membrane potential GO:0051881 9.65 BAX BCL2 PRDX3
7 negative regulation of apoptotic signaling pathway GO:2001234 9.58 BAX BCL2
8 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.57 BAX BCL2
9 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 9.56 BAX FASLG
10 regulation of protein heterodimerization activity GO:0043497 9.54 BAX BCL2
11 regulation of protein homodimerization activity GO:0043496 9.52 BAX BCL2
12 leukocyte homeostasis GO:0001776 9.51 BAX BCL2
13 retinal cell programmed cell death GO:0046666 9.46 BAX FASLG
14 regulation of nitrogen utilization GO:0006808 9.43 BAX BCL2
15 release of cytochrome c from mitochondria GO:0001836 9.43 BAX BCL2 CLU
16 positive regulation of developmental pigmentation GO:0048087 9.4 BAX BCL2
17 hydrogen peroxide catabolic process GO:0042744 9.33 PRDX2 PRDX3 PRDX6
18 cell redox homeostasis GO:0045454 9.26 PRDX2 PRDX3 PRDX5 PRDX6
19 response to oxidative stress GO:0006979 9.02 BCL2 PRDX2 PRDX3 PRDX5 PRDX6

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

id Name GO ID Score Top Affiliating Genes
1 peroxidase activity GO:0004601 9.56 PRDX2 PRDX3 PRDX5 PRDX6
2 channel activity GO:0015267 9.37 BAX BCL2
3 thioredoxin peroxidase activity GO:0008379 9.33 PRDX2 PRDX3 PRDX5
4 BH3 domain binding GO:0051434 9.32 BAX BCL2
5 antioxidant activity GO:0016209 9.26 PRDX2 PRDX3 PRDX5 PRDX6
6 peroxiredoxin activity GO:0051920 8.92 PRDX2 PRDX3 PRDX5 PRDX6

Sources for Fuchs' Endothelial Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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