FECD1
MCID: CRN233
MIFTS: 37

Corneal Dystrophy, Fuchs Endothelial, 1 (FECD1)

Categories: Eye diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Corneal Dystrophy, Fuchs Endothelial, 1

MalaCards integrated aliases for Corneal Dystrophy, Fuchs Endothelial, 1:

Name: Corneal Dystrophy, Fuchs Endothelial, 1 58 76 13
Corneal Dystrophy, Fuchs Endothelial 1 30 6
Fecd1 58 76
Corneal Dystrophy, Fuchs Endothelial, Early-Onset 58
Corneal Dystrophy Fuchs Endothelial Early-Onset 76
Dystrophy, Corneal, Fuchs Endothelial, Type 1 41
Corneal Dystrophy, Fuchs' Endothelial, 1 74
Fuchs Endothelial Dystrophy 74
Fuchs Dystrophy 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
usually sporadic
onset by 3rd or 4th decade (earlier onset rare)
greater expression in females
female to male ratio, 1:1


HPO:

33
corneal dystrophy, fuchs endothelial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 136800
MeSH 45 D005642
MedGen 43 C1850959

Summaries for Corneal Dystrophy, Fuchs Endothelial, 1

OMIM : 58 Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane. These excrescences, called guttae, are the clinical hallmark of FECD and become more numerous with progression of the disease. As the endothelial layer develops confluent guttae in the central cornea, the cells are no longer able to keep the cornea dehydrated and clear (summary by Baratz et al., 2010). (136800)

MalaCards based summary : Corneal Dystrophy, Fuchs Endothelial, 1, also known as corneal dystrophy, fuchs endothelial 1, is related to fuchs' endothelial dystrophy and corneal dystrophy, fuchs endothelial, 2. An important gene associated with Corneal Dystrophy, Fuchs Endothelial, 1 is COL8A2 (Collagen Type VIII Alpha 2 Chain). The drugs Loteprednol and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include endothelial and eye, and related phenotypes are corneal dystrophy and corneal stromal edema

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Fuchs'' dystrophy, also referred to as Fuchs'' corneal endothelial dystrophy (FCED) and Fuchs''... more...

Related Diseases for Corneal Dystrophy, Fuchs Endothelial, 1

Graphical network of the top 20 diseases related to Corneal Dystrophy, Fuchs Endothelial, 1:



Diseases related to Corneal Dystrophy, Fuchs Endothelial, 1

Symptoms & Phenotypes for Corneal Dystrophy, Fuchs Endothelial, 1

Human phenotypes related to Corneal Dystrophy, Fuchs Endothelial, 1:

33
# Description HPO Frequency HPO Source Accession
1 corneal dystrophy 33 HP:0001131
2 corneal stromal edema 33 HP:0012040
3 descemet membrane folds 33 HP:0012039
4 corneal degeneration 33 HP:0007705
5 corneal guttata 33 HP:0012038

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
corneal stromal edema
early-onset corneal degeneration
central corneal endothelial guttata and folds
endothelial cell death with hypertrophy and polymorphism of surviving cells
microcystic epithelial edema
more

Clinical features from OMIM:

136800

MGI Mouse Phenotypes related to Corneal Dystrophy, Fuchs Endothelial, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 AQP1 COL8A2

Drugs & Therapeutics for Corneal Dystrophy, Fuchs Endothelial, 1

Drugs for Corneal Dystrophy, Fuchs Endothelial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Loteprednol Approved, Experimental Phase 4 82034-46-6, 129260-79-3 9865442 444025
2
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2 302-25-0
3
Prednisolone Approved, Vet_approved Phase 4,Phase 2 50-24-8 5755
4
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2 2921-57-5
6
Prednisolone hemisuccinate Experimental Phase 4,Phase 2 2920-86-7
7 Peripheral Nervous System Agents Phase 4,Phase 2
8 Hormones Phase 4,Phase 2
9 Pharmaceutical Solutions Phase 4,Phase 2,Not Applicable
10 Protective Agents Phase 4,Phase 2
11 Ophthalmic Solutions Phase 4,Phase 2
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
13 Antineoplastic Agents, Hormonal Phase 4,Phase 2
14 Gastrointestinal Agents Phase 4,Phase 2
15 Antiemetics Phase 4,Phase 2
16 Anti-Allergic Agents Phase 4,Phase 2
17 glucocorticoids Phase 4,Phase 2
18 Methylprednisolone Acetate Phase 4,Phase 2
19 Neuroprotective Agents Phase 4,Phase 2
20 Autonomic Agents Phase 4,Phase 2
21 Hormone Antagonists Phase 4,Phase 2
22 Anti-Inflammatory Agents Phase 4,Phase 2
23 Prednisolone acetate Phase 4,Phase 2
24
Fluorometholone Approved, Investigational Phase 2 426-13-1 9878
25 Lubricant Eye Drops Phase 2
26
Dipivefrin Approved Not Applicable 52365-63-6 3105

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Comparison of Corticosteroid Dosing Regimens After Endothelial Keratoplasty Completed NCT01853696 Phase 4 loteprednol etabonate;prednisolone acetate 1%
2 Ripasudil for Enhanced Corneal Clearing Following Descemet Membrane Endothelial Keratoplasty in Fuchs' Dystrophy Recruiting NCT03813056 Phase 2 Glanatec;Optive, Ophthalmic Solution
3 Comparison of Two Steroid Regimens to Prevent Transplant Rejection After Corneal Transplant (DMEK) Completed NCT01448213 Phase 2 Prednisolone acetate;Fluorometholone
4 Ripasudil 0.4% Eye Drops in Fuchs Endothelial Corneal Dystrophy Recruiting NCT03575130 Phase 2 Ripasudil eye drops;Optive eye drops
5 Cornea Donor Study Unknown status NCT00006411 Not Applicable
6 Novel Diagnostics With Optical Coherence Tomography: Imaging the Anterior Eye Recruiting NCT00343473
7 Study of the Effect of Aspheric Lenses in Patients With Fuch's Dystrophy Withdrawn NCT02109276 Not Applicable
8 A Comparison Between Full Thickness and Partial Thickness Corneal Transplantation for Corneal Edema Completed NCT00346138 Not Applicable
9 Femtolaser Assisted Keratoplasty Versus Conventional Keratoplasty Recruiting NCT03619434 Not Applicable
10 Comparison of Two Techniques in Achieving Corneal Graft Completed NCT01610973 Not Applicable
11 The ADVISE Study: Advanced Visualization In Corneal Surgery Evaluation Recruiting NCT03763721 Not Applicable
12 Specular Microscopy Study Withdrawn NCT02478970 Not Applicable

Search NIH Clinical Center for Corneal Dystrophy, Fuchs Endothelial, 1

Genetic Tests for Corneal Dystrophy, Fuchs Endothelial, 1

Genetic tests related to Corneal Dystrophy, Fuchs Endothelial, 1:

# Genetic test Affiliating Genes
1 Corneal Dystrophy, Fuchs Endothelial 1 30 COL8A2

Anatomical Context for Corneal Dystrophy, Fuchs Endothelial, 1

MalaCards organs/tissues related to Corneal Dystrophy, Fuchs Endothelial, 1:

42
Endothelial, Eye

Publications for Corneal Dystrophy, Fuchs Endothelial, 1

Articles related to Corneal Dystrophy, Fuchs Endothelial, 1:

(show top 50) (show all 92)
# Title Authors Year
1
Comparing Outcomes of Phacoemulsification With Femtosecond Laser-Assisted Cataract Surgery in Patients with Fuchs Endothelial Dystrophy. ( 30579616 )
2019
2
DMEK versus DSAEK for Fuchs' endothelial dystrophy: A meta-analysis. ( 29661044 )
2019
3
Predictive Factors for Clinical Outcomes after Primary Descemet's Membrane Endothelial Keratoplasty for Fuchs' Endothelial Dystrophy. ( 30339062 )
2019
4
Primary Descemet's Membrane Endothelial Keratoplasty for Fuchs Endothelial Dystrophy versus Bullous Keratopathy: Histopathology and Clinical Results. ( 29939775 )
2018
5
Comparing Outcomes of Phacoemulsification With Femtosecond Laser-Assisted Cataract Surgery in Patients With Fuchs Endothelial Dystrophy. ( 30098347 )
2018
6
Evolving therapies for Fuchs' endothelial dystrophy. ( 29360003 )
2018
7
A Historical Perspective on Treatment of Fuchs' Endothelial Dystrophy: We have Come a Long Way. ( 30090191 )
2018
8
Scanning Acoustic Microscopy Comparison of Descemet's Membrane Normal Tissue and Tissue With Fuchs' Endothelial Dystrophy. ( 30481279 )
2018
9
Study of light scattering using C-Quant® in patients with Fuchs' endothelial dystrophy: A pilot study. ( 28320557 )
2017
10
Mini descemet membrane stripping (m-DMES) in patients with Fuchs' endothelial dystrophy: A new method. ( 29234234 )
2017
11
Changes in Corneal Densitometry in Patients with Fuchs Endothelial Dystrophy after Endothelial Keratoplasty. ( 27260144 )
2017
12
Case Report of Quarter-Descemet Membrane Endothelial Keratoplasty for Fuchs Endothelial Dystrophy. ( 27583798 )
2017
13
Descemet Stripping Automated Endothelial Keratoplasty in Fuchs' Endothelial Dystrophy versus Pseudophakic Bullous Keratopathy. ( 27994806 )
2016
14
Interface Fluid Syndrome After Laser In Situ Keratomileusis (LASIK) Because of Fuchs Endothelial Dystrophy Reversed by Descemet Membrane Endothelial Keratoplasty (DMEK). ( 27490052 )
2016
15
Treatment of Fuchs Endothelial Dystrophy by Descemet Stripping Without Endothelial Keratoplasty. ( 27310885 )
2016
16
Existence of Neural Crest-Derived Progenitor Cells in Normal and Fuchs Endothelial Dystrophy Corneal Endothelium. ( 27639969 )
2016
17
Corneal Densitometry, Central Corneal Thickness, and Corneal Central-to-Peripheral Thickness Ratio in Patients With Fuchs Endothelial Dystrophy. ( 26655484 )
2016
18
Preliminary outcome of hemi-Descemet membrane endothelial keratoplasty for Fuchs endothelial dystrophy. ( 26837507 )
2016
19
Changes in Corneal Refractive Power for Patients With Fuchs Endothelial Dystrophy After DMEK. ( 27055217 )
2016
20
Evaluation of Endothelial Pump Function in Fuchs Endothelial Dystrophy Before and After Endothelial Keratoplasty. ( 27055221 )
2016
21
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
22
The pathophysiology of Fuchs' endothelial dystrophy--a review of molecular and cellular insights. ( 25446318 )
2015
23
Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. ( 26087656 )
2015
24
Unusual Histopathological Views of Fuchs' Endothelial Dystrophy. ( 26498080 )
2015
25
Impact of donor characteristics on 2-year Descemet stripping automated endothelial keratoplasty outcomes in patients with Fuchs endothelial dystrophy. ( 25393091 )
2015
26
Vision with Fuchs endothelial dystrophy. ( 25856653 )
2015
27
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
28
Outcome of Two Corneal Collagen Crosslinking Methods in Bullous Keratopathy due to Fuchs' Endothelial Dystrophy. ( 25484904 )
2014
29
Intraocular pressure and corneal biomechanics in Fuchs' endothelial dystrophy and after posterior lamellar keratoplasty. ( 23607620 )
2014
30
Objective assessment of the corneal endothelium in Fuchs' endothelial dystrophy. ( 24508788 )
2014
31
Vision-related quality of life before and after keratoplasty for Fuchs' endothelial dystrophy. ( 25015214 )
2014
32
Corneal abnormalities early in the course of Fuchs' endothelial dystrophy. ( 25156138 )
2014
33
A retrospective study of the association between Fuchs' endothelial dystrophy and glaucoma. ( 25378902 )
2014
34
L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy. ( 23422828 )
2013
35
Retained Descemet's membrane following penetrating keratoplasty for Fuchs' endothelial dystrophy: a case report of a post-operative complication. ( 23901260 )
2013
36
An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis. ( 22002996 )
2012
37
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. ( 22234156 )
2012
38
Anterior corneal aberrations after Descemet's stripping endothelial keratoplasty for Fuchs' endothelial dystrophy. ( 22480739 )
2012
39
Corneal haze in course of Fuchs' endothelial dystrophy. ( 23007820 )
2012
40
In vivo confocal microscopy of combined pre-descemet membrane corneal dystrophy and fuchs endothelial dystrophy. ( 20847662 )
2011
41
Persistent corneal edema after descemetorhexis without corneal graft implantation in a case of fuchs endothelial dystrophy. ( 21045656 )
2011
42
Descemet's stripping with endothelial keratoplasty for special Fuchs' endothelial dystrophy in phakic eyes. ( 21212708 )
2011
43
Approaching cataract surgery in patients with fuchs' endothelial dystrophy. ( 20057291 )
2010
44
Combined anterior keratoconus and Fuchs' endothelial dystrophy: a report of two cases. ( 20597912 )
2010
45
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. ( 18464802 )
2009
46
Descemet's stripping automated endothelial keratoplasty and penetrating keratoplasty for Fuchs' endothelial dystrophy. ( 19302079 )
2009
47
Fuchs' endothelial dystrophy in 830-nm spectral domain optical coherence tomography. ( 19320314 )
2009
48
Long-term keratometric changes after penetrating keratoplasty for keratoconus and Fuchs Endothelial dystrophy. ( 18834579 )
2009
49
[Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]. ( 19507099 )
2009
50
Posterior mushroom keratoplasty in patients with Fuchs endothelial dystrophy and pseudophakic bullous keratopathy: transplant outcome. ( 18580259 )
2008

Variations for Corneal Dystrophy, Fuchs Endothelial, 1

UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Fuchs Endothelial, 1:

76
# Symbol AA change Variation ID SNP ID
1 COL8A2 p.Arg155Gln VAR_017894 rs75864656
2 COL8A2 p.Arg304Gln VAR_017895 rs369487110
3 COL8A2 p.Arg434His VAR_017897 rs201235688
4 COL8A2 p.Gln455Lys VAR_017898 rs80358191

ClinVar genetic disease variations for Corneal Dystrophy, Fuchs Endothelial, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL8A2 NM_005202.3(COL8A2): c.1363C> A (p.Gln455Lys) single nucleotide variant Pathogenic rs80358191 GRCh37 Chromosome 1, 36563919: 36563919
2 COL8A2 NM_005202.3(COL8A2): c.1363C> A (p.Gln455Lys) single nucleotide variant Pathogenic rs80358191 GRCh38 Chromosome 1, 36098318: 36098318
3 COL8A2 NM_005202.3(COL8A2): c.1349T> G (p.Leu450Trp) single nucleotide variant Pathogenic rs80358192 GRCh37 Chromosome 1, 36563933: 36563933
4 COL8A2 NM_005202.3(COL8A2): c.1349T> G (p.Leu450Trp) single nucleotide variant Pathogenic rs80358192 GRCh38 Chromosome 1, 36098332: 36098332
5 COL8A2 NM_005202.3(COL8A2): c.1363_1364delCAinsGT (p.Gln455Val) indel Pathogenic rs727504229 GRCh37 Chromosome 1, 36563918: 36563919
6 COL8A2 NM_005202.3(COL8A2): c.1363_1364delCAinsGT (p.Gln455Val) indel Pathogenic rs727504229 GRCh38 Chromosome 1, 36098317: 36098318

Expression for Corneal Dystrophy, Fuchs Endothelial, 1

Search GEO for disease gene expression data for Corneal Dystrophy, Fuchs Endothelial, 1.

Pathways for Corneal Dystrophy, Fuchs Endothelial, 1

GO Terms for Corneal Dystrophy, Fuchs Endothelial, 1

Sources for Corneal Dystrophy, Fuchs Endothelial, 1

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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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