CHED
MCID: CRN276
MIFTS: 50

Corneal Endothelial Dystrophy (CHED)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Corneal Endothelial Dystrophy

MalaCards integrated aliases for Corneal Endothelial Dystrophy:

Name: Corneal Endothelial Dystrophy 56 12 73 29 6 15
Chandler Syndrome 12 52 58 15 71
Congenital Hereditary Endothelial Dystrophy of Cornea 56 12 73 15
Chandler's Syndrome 12 74 52
Ched 56 12 73
Corneal Endothelial Dystrophy 2, Autosomal Recessive 73 13
Endothelial Corneal Dystrophy 12 54
Maumenee Corneal Dystrophy 58 73
Ched2 58 73
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly; Ched2, Formerly 56
Autosomal Recessive Congenital Hereditary Endothelial Dystrophy 58
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly 56
Corneal Dystrophy, Congenital Hereditary Endothelial 56
Corneal Endothelial Dystrophy 1, Autosomal Dominant 71
Congenital Hereditary Endothelial Dystrophy Type Ii 58
Congenital Hereditary Endothelial Corneal Dystrophy 73
Corneal Endothelial Dystrophy, Autosomal Recessive 56
Congenital Hereditary Endothelial Dystrophy Type 2 58
Infantile Hereditary Endothelial Dystrophy 58
Posterior Membrane Corneal Dystrophy 12
Iridocorneal Endothelial Syndrome 43
Dystrophy of Corneal Endothelium 12
Dystrophy, Corneal, Endothelial 39
Corneal Endothelial Dystrophy 2 71
Autosomal Recessive Ched 58
Endothelial Dystrophy 12
Ched2, Formerly 56
Chedii 58

Characteristics:

Orphanet epidemiological data:

58
congenital hereditary endothelial dystrophy type ii
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
corneal endothelial dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 217700
ICD9CM 34 371.57
SNOMED-CT 67 16949007
ICD10 32 H18.51
ICD10 via Orphanet 33 H18.5 H21.2
UMLS via Orphanet 72 C0544008 C1096100 C1857569
MedGen 41 C1857569
SNOMED-CT via HPO 68 246957002 258211005
UMLS 71 C0544008 C1852555 C1857569

Summaries for Corneal Endothelial Dystrophy

NIH Rare Diseases : 52 Chandler's syndrome is a rare eye disorder in which the single layer of cells lining the interior of the cornea proliferates, causing changes within the iris, corneal swelling, and unusually high pressure in the eye (glaucoma ). This condition is one of three syndromes, along with progressive iris atrophy and Cogan-Reese syndrome, that make up the iridocorneal endothelial (ICE) syndrome . In most cases, only one eye is affected. Symptoms may include reduced vision and pain. Chandler's syndrome more often affects females and usually presents sometime during middle age. The cause of this disease is unknown.

MalaCards based summary : Corneal Endothelial Dystrophy, also known as chandler syndrome, is related to cogan-reese syndrome and corneal dystrophy, posterior polymorphous, 1. An important gene associated with Corneal Endothelial Dystrophy is SLC4A11 (Solute Carrier Family 4 Member 11). The drugs Loteprednol and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and retina, and related phenotypes are opacification of the corneal stroma and congenital corneal dystrophy

Disease Ontology : 12 A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane.

OMIM : 56 Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane (summary by Vithana et al., 2006). (217700)

UniProtKB/Swiss-Prot : 73 Corneal endothelial dystrophy: A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.

Wikipedia : 74 Iridocorneal Endothelial (ICE) syndromes are a spectrum of diseases characterized by slowly progressive... more...

Related Diseases for Corneal Endothelial Dystrophy

Diseases in the Corneal Endothelial Dystrophy family:

Corneal Endothelial Dystrophy Type 2

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

(show top 50) (show all 138)
# Related Disease Score Top Affiliating Genes
1 cogan-reese syndrome 31.3 OVOL2 COL8A2
2 corneal dystrophy, posterior polymorphous, 1 31.2 ZNF469 ZNF133 ZEB1 VSX1 UBIAD1 TGFBI
3 corneal dystrophy, fuchs endothelial, 1 31.0 COL8A2 AQP1
4 corneal dystrophy, posterior polymorphous, 2 30.5 ZEB1 VSX1 SLC4A11 OVOL2 COL8A2
5 secondary corneal edema 30.5 SLC4A11 LOXHD1 COL8A2
6 corneal dystrophy, endothelial, x-linked 30.4 VSX1 SLC4A11 COL8A2
7 corneal edema 30.4 ZEB1 VSX1 TGFBI SLC4A11 LOXHD1 KRT3
8 corneal ectasia 30.2 ZNF469 VSX1 TGFBI COL8A2
9 keratoconus 30.1 ZNF469 VSX1 TGFBI SLC4A11 KRT3 KRT12
10 corneal dystrophy, band-shaped 29.9 SLC4A11 COL8A2
11 intraocular pressure quantitative trait locus 29.9 ZEB1 CTSA AQP1
12 corneal dystrophy, posterior polymorphous, 3 29.8 ZNF133 ZEB1 VSX1 UBIAD1 SLC4A11 OVOL2
13 irregular astigmatism 29.8 ZNF469 VSX1 TGFBI SLC4A11 KRT3 KRT12
14 stromal dystrophy 29.5 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
15 corneal dystrophy 29.4 ZEB1 VSX1 UBIAD1 TGFBI SLC4A11 OVOL2
16 fuchs' endothelial dystrophy 29.2 ZNF469 ZEB1 VSX1 TGFBI SLC4A11 LOXHD1
17 corneal disease 29.0 ZNF469 ZEB1 VSX1 UBIAD1 TGFBI SLC4A11
18 corneal endothelial dystrophy type 2 12.7
19 endothelial dystrophy, congenital hereditary, with nail hypoplasia 12.4
20 corneal dystrophy and perceptive deafness 12.4
21 corneal dystrophy, fuchs endothelial, 3 12.3
22 edict syndrome 12.1
23 corneal dystrophy, fuchs endothelial, 6 11.8
24 corneal dystrophy, congenital stromal 11.5
25 congenital hereditary endothelial dystrophy type i 11.5
26 corneal dystrophy, fuchs endothelial, 5 11.4
27 corneal dystrophy, fuchs endothelial, 8 11.4
28 posterior corneal dystrophy 10.4 ZEB1 COL8A2
29 eye disease 10.4
30 stromal corneal dystrophy 10.3 UBIAD1 TGFBI
31 pseudopterygium 10.3 SLC4A11 KRT3 KRT12
32 epithelial basement membrane dystrophy 10.3 TGFBI CHST6
33 corneal dystrophy, fleck 10.3 TGFBI SLC4A11 LOXHD1 COL8A2
34 herpes simplex 10.3
35 keratoconus 1 10.3 ZNF469 VSX1
36 lattice corneal dystrophy 10.2 TGFBI KRT12 CHST6
37 brittle cornea syndrome 2 10.2 ZNF469 VSX1 SLC4A11 COL8A2
38 pathologic nystagmus 10.2
39 overgrowth syndrome 10.2
40 limbal stem cell deficiency 10.2 KRT3 KRT12
41 axenfeld-rieger syndrome 10.2
42 melanoma 10.2
43 scotoma 10.2
44 ellis-van creveld syndrome 10.2
45 corneal deposit 10.1 UBIAD1 TGFBI KRT3 CHST6
46 corneal dystrophy, lisch epithelial 10.1 UBIAD1 KRT3 KRT12 CHST6
47 schnyder corneal dystrophy 10.1 UBIAD1 TGFBI KRT3 KRT12
48 recurrent corneal erosion 10.1 TGFBI KRT3 KRT12 COL8A2 CHST6
49 granular corneal dystrophy 10.1 TGFBI KRT3 KRT12 COL8A2 CHST6
50 epithelial-stromal tgfbi dystrophy 10.1 TGFBI KRT3 KRT12 COL8A2 CHST6

Comorbidity relations with Corneal Endothelial Dystrophy via Phenotypic Disease Network (PDN):


Bullous Keratopathy Corneal Edema

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



Diseases related to Corneal Endothelial Dystrophy

Symptoms & Phenotypes for Corneal Endothelial Dystrophy

Human phenotypes related to Corneal Endothelial Dystrophy:

31
# Description HPO Frequency HPO Source Accession
1 opacification of the corneal stroma 31 HP:0007759
2 congenital corneal dystrophy 31 HP:0008005

Symptoms via clinical synopsis from OMIM:

56
Eyes:
congenital corneal dystrophy
corneal clouding

Clinical features from OMIM:

217700

MGI Mouse Phenotypes related to Corneal Endothelial Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.36 AQP1 CHST6 COL8A1 COL8A2 KRT12 OVOL2

Drugs & Therapeutics for Corneal Endothelial Dystrophy

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
2
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
6
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
7
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
8 Protective Agents Phase 4
9 Methylprednisolone Acetate Phase 4
10 Neuroprotective Agents Phase 4
11 Anti-Allergic Agents Phase 4
12 Ophthalmic Solutions Phase 4
13
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
14
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
15
Fluorometholone Approved, Investigational Phase 2 426-13-1 9878
16 Antiemetics Phase 2
17 Gastrointestinal Agents Phase 2
18 Anti-Inflammatory Agents Phase 2
19 Hormone Antagonists Phase 2
20 Antineoplastic Agents, Hormonal Phase 2
21 Autonomic Agents Phase 2
22 glucocorticoids Phase 2
23 Hormones Phase 2
24 HIV Protease Inhibitors Phase 2
25
protease inhibitors Phase 2
26 BB 1101 Phase 2
27 Lubricant Eye Drops Phase 2
28
Ketotifen Approved 34580-13-7, 34580-14-8 3827
29
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
30 Adjuvants, Immunologic
31 Immunologic Factors
32 Viscosupplements
33 Pharmaceutical Solutions

Interventional clinical trials:

(show top 50) (show all 56)
# Name Status NCT ID Phase Drugs
1 A Randomized, Observer-masked, Clinical Trial Comparing the Neusidl Corneal Inserter Corneal Transplant Technique to the Standard Forceps Insertion Technique for Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT01357122 Phase 4
2 Fuchs' Endothelial Dystrophy and Cataract Surgery: Can Torsional Phacoemulsification Decrease the Risk for Corneal Decompensation Completed NCT00781027 Phase 4
3 Prospective, Randomized Comparison of Corticosteroid Dosing Regimens Following Endothelial Keratoplasty Completed NCT01853696 Phase 4 loteprednol etabonate;prednisolone acetate 1%
4 Intrastromal Corneal Ring Segment Implantation for High Astigmatism on Postkeratoplasty Eyes Completed NCT01018797 Phase 4
5 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
6 Randomized, Double-masked, Placebo-controlled Evaluation of Netarsudil for Prevention of Corticosteroid-induced Intraocular Pressure Elevation Completed NCT03248037 Phase 3 Netarsudil;Placebo
7 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
8 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
9 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
10 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
11 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone: Tolerance and Safety Pilot Study Completed NCT02834260 Phase 2 Dexamethasone implant OZURDEX
12 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
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 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
15 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
16 Prospective Clinical Study on Postoperative Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044
17 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
18 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
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 DSAEK- Postoperative Positioning and Transplant Dislocation Unknown status NCT01206127
21 The Effect of Plant-based Diets (Vegetarian and Vegan) on Endothelial Function and Atherogenic Parameters Unknown status NCT02153138
22 Cornea Donor Study Unknown status NCT00006411
23 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Completed NCT01795001
24 Open-enrollment, Prospective Study of Endothelial Keratoplasty Outcomes Completed NCT00800111
25 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250
26 Corneal Transplantation by DMEK - is it Really Better Than DSAEK? Completed NCT02793310
27 Anomalies of the Anterior Chamber, Angle, Iris, Cornea and Lens With or Without Glaucoma or Ocular Hypertension Completed NCT00001161
28 Combined Cataract Surgery and Planned Descemetorhexis Completed NCT02206594
29 ODM 5 in the Treatment of Corneal Edematous Fuchs' Endothelial Dystrophy Completed NCT02332109
30 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
31 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
32 Impact of Cataract Surgery on Keratoplasty Graft Survival Completed NCT02875145
33 Comparison of Manual and Automated Techniques in Achieving Posterior Lamellar Transplantation of the Cornea Completed NCT01610973
34 Prospective Intraoperative and Perioperative Ophthalmic Imaging With Optical Coherence Tomography: PIONEER Study Completed NCT02423161
35 The Effect of Hydrodynamic Parameters on Corneal Endothelial Cell Loss After Phacoemulsification Completed NCT00370955
36 Study of the Efficiency and Workflow of Femtosecond Laser Assisted Cataract Surgery in a Spanish Public Hospital Completed NCT03931629
37 Deep Lamellar Endothelial Keratoplasty as Surgical Treatment for Corneal Endothelial Decompensation Completed NCT00346138
38 Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S Recruiting NCT03974230
39 Technique And Results Evaluation In Endothelial Keratoplasty Recruiting NCT02470793
40 Escala de Riesgo de descompensación Corneal en cirugía de Catarata en Pacientes Con Distrofia Corneal de Fuchs Recruiting NCT04072029
41 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
42 Air Versus SF6 for Descemet's Membrane Endothelial Keratoplasty (DMEK) Recruiting NCT03407755
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 Novel Diagnostics With Optical Coherence Tomography: Imaging of the Anterior Eye Recruiting NCT00343473
47 The ADVISE Study: Advanced Visualization In Corneal Surgery Evaluation Intra-operative Optical Coherence Tomography in Posterior Lamellar Keratoplasty Recruiting NCT03763721
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 Efficacy of Hyperosmolar Eye Drops in Diurnal Corneal Edema in Fuchs Endothelial Dystrophy: a Double Blind Randomized Controlled Trial Not yet recruiting NCT04140422

Search NIH Clinical Center for Corneal Endothelial Dystrophy

Cochrane evidence based reviews: iridocorneal endothelial syndrome

Genetic Tests for Corneal Endothelial Dystrophy

Genetic tests related to Corneal Endothelial Dystrophy:

# Genetic test Affiliating Genes
1 Corneal Endothelial Dystrophy 29

Anatomical Context for Corneal Endothelial Dystrophy

MalaCards organs/tissues related to Corneal Endothelial Dystrophy:

40
Endothelial, Eye, Retina, Testes

Publications for Corneal Endothelial Dystrophy

Articles related to Corneal Endothelial Dystrophy:

(show top 50) (show all 118)
# Title Authors PMID Year
1
Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. 61 6
16825429 2007
2
IC3D classification of corneal dystrophies--edition 2. 56
25564336 2015
3
SLC4A11 mutations in Fuchs endothelial corneal dystrophy. 6
18024964 2008
4
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). 56
16767101 2006
5
Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping. 56
10512674 1999
6
Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct. 56
10209448 1999
7
Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the cornea. 56
3261696 1988
8
Congenital hereditary corneal oedema of Maumenee: its clinical features, management, and pathology. 56
3548808 1987
9
Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy. 56
306759 1978
10
Congenital endothelial corneal dystrophy. Clinical, pathological, and genetic study. 56
4900143 1969
11
Congenital hereditary corneal dystrophy. 56
13768390 1960
12
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 54 61
11689488 2001
13
Comparison of automated vs manual analysis of corneal endothelial cell density and morphology in normal and corneal endothelial dystrophy-affected dogs. 61
31179615 2020
14
Revisiting Existing Evidence of Corneal Endothelial Progenitors and Their Potential Therapeutic Applications in Corneal Endothelial Dysfunction. 61
32002810 2020
15
Comorbidity of keratoconus and Fuchs' corneal endothelial dystrophy: a review of the literature. 61
31865313 2019
16
Early postoperative results of Descemet's stripping endothelial keratoplasty in six dogs with corneal endothelial dystrophy. 61
30895742 2019
17
Endothelial keratoplasty for corneal endothelial dystrophy in a dog. 61
30972947 2019
18
Corneal Tomography Changes and Refractive Outcomes After Descemet Stripping Without Endothelial Keratoplasty. 61
30998616 2019
19
Corneal collagen cross-linking following superficial keratectomy as treatment for corneal endothelial cell dystrophy in dogs: Preliminary clinical study. 61
30109755 2019
20
Does anterior chamber-associated immune deviation (ACAID) play a role in posterior lamellar keratoplasty? Case report of a splenectomized patient. 61
31046736 2019
21
Perioperative topical ascorbic acid for the prevention of phacoemulsification-related corneal endothelial damage: Two case reports and review of literature. 61
30863764 2019
22
R125H, W240S, C386R, and V507I SLC4A11 mutations associated with corneal endothelial dystrophy affect the transporter function but not trafficking in PS120 cells. 61
30557570 2019
23
Imaging the Corneal Endothelium in Fuchs Corneal Endothelial Dystrophy. 61
31215821 2019
24
Review: corneal endothelial cell derivation methods from ES/iPS cells. 61
31592286 2019
25
Cogan-Reese syndrome: image analysis with specular microscopy, optical coherence tomography, and ultrasound biomicroscopy. 61
31327934 2019
26
Progressive idiopathic unilateral corneal endothelial failure of unknown aetiology in phakic eyes. 61
29483081 2018
27
Descemet Membrane Endothelial Keratoplasty - Complication and management of a single case for tissue preparation and graft size linked to post-op descemetorhexis disparity. 61
30246164 2018
28
The iridocorneal endothelial syndrome. 61
29331589 2018
29
Cataract Surgery in High Hyperopia. 61
29669369 2018
30
Descemet Membrane Endothelial Keratoplasty: Outcomes in the First Year of Experience. 61
29528002 2018
31
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. 61
29499165 2018
32
Predictive Factors for Corneal Clearance After Descemetorhexis Without Endothelial Keratoplasty. 61
29053562 2018
33
[Differential diagnosis and treatment of Chandler iridocorneal endothelial syndrome]. 61
29543203 2018
34
Phenotypic Characterization of Corneal Endothelial Dystrophy in German Shorthaired and Wirehaired Pointers Using In Vivo Advanced Corneal Imaging and Histopathology. 61
29077583 2018
35
Corneal Endothelial Dystrophy Associated With Myotonic Dystrophy: A Report of 2 Cases. 61
28820792 2017
36
Comparison of Femtosecond Laser-Enabled Descemetorhexis and Manual Descemetorhexis in Descemet Membrane Endothelial Keratoplasty. 61
28594697 2017
37
SLC4A11 depletion impairs NRF2 mediated antioxidant signaling and increases reactive oxygen species in human corneal endothelial cells during oxidative stress. 61
28642546 2017
38
Management of Interface Fluid Syndrome After LASIK by Descemet Membrane Endothelial Keratoplasty in a Patient With Fuchs' Corneal Endothelial Dystrophy. 61
28486726 2017
39
Glutaminolysis is Essential for Energy Production and Ion Transport in Human Corneal Endothelium. 61
28117276 2017
40
Glaucoma associated with iridocorneal endothelial syndrome in 203 Indian subjects. 61
28282413 2017
41
Evaluation of Visual Quality in Patients With Fuchs Endothelial Corneal Dystrophy. 61
27631348 2016
42
Biomechanical relationships between the corneal endothelium and Descemet's membrane. 61
27639516 2016
43
Descemet Stripping Automated Endothelial Keratoplasty for a Patient With Combined Fuchs Dystrophy and Corneal Ectasia-A Follow-up on Vira et al's "Descemet Stripping Endothelial Keratoplasty for Treatment of Combined Fuchs Corneal Endothelial Dystrophy and Keratoconus," Cornea 2014;33: 1-5. 61
27583801 2016
44
In Vivo Imaging of Corneal Endothelial Dystrophy in Boston Terriers: A Spontaneous, Canine Model for Fuchs' Endothelial Corneal Dystrophy. 61
27454658 2016
45
The Ultrastructures and Mechanical Properties of the Descement's Membrane in Fuchs Endothelial Corneal Dystrophy. 61
26980551 2016
46
Pathology of Mouse Models of Accelerated Aging. 61
26864891 2016
47
Boston Type 1 Keratoprosthesis for Iridocorneal Endothelial Syndromes. 61
26398156 2015
48
Planned Descemetorhexis Without Endothelial Keratoplasty in Eyes With Fuchs Corneal Endothelial Dystrophy. 61
26186374 2015
49
Descemet stripping automated endothelial keratoplasty in Fuchs' corneal endothelial dystrophy: anterior segment optical coherence tomography and in vivo confocal microscopy analysis. 61
26253099 2015
50
Mutations in the Corneal Endothelial Dystrophy-Associated Gene SLC4A11 Render the Cells More Vulnerable to Oxidative Insults. 61
25811729 2015

Variations for Corneal Endothelial Dystrophy

ClinVar genetic disease variations for Corneal Endothelial Dystrophy:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC4A11 NM_001174089.2(SLC4A11):c.2216G>A (p.Arg739Gln)SNV Pathogenic 1304 rs121909387 20:3209330-3209330 20:3228684-3228684
2 SLC4A11 NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu)SNV Pathogenic 1305 rs121909388 20:3210904-3210904 20:3230258-3230258
3 SLC4A11 NM_001174089.2(SLC4A11):c.1343G>A (p.Gly448Asp)SNV Pathogenic 1306 rs121909389 20:3211233-3211233 20:3230587-3230587
4 SLC4A11 NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter)SNV Pathogenic 1307 rs121909390 20:3210076-3210076 20:3229430-3229430
5 SLC4A11 NM_001174089.2(SLC4A11):c.305_308del (p.Lys102fs)deletion Pathogenic 1308 rs869320720 20:3214944-3214947 20:3234298-3234301
6 SLC4A11 NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys)SNV Pathogenic 1309 rs121909391 20:3208906-3208906 20:3228260-3228260
7 SLC4A11 NM_001174089.2(SLC4A11):c.2019-16_2019-6delinsGGCCGGCCGGindel Pathogenic 1310 rs869320617 20:3209663-3209673 20:3229017-3229027
8 SLC4A11 NM_001174089.2(SLC4A11):c.2558G>A (p.Arg853His)SNV Pathogenic 1311 rs121909392 20:3208905-3208905 20:3228259-3228259
9 SLC4A11 NM_001174089.2(SLC4A11):c.1110C>A (p.Cys370Ter)SNV Pathogenic 666996 20:3211637-3211637 20:3230991-3230991
10 SLC4A11 NM_001174089.2(SLC4A11):c.425_433delinsC (p.Arg142fs)indel Pathogenic 208613 rs797045107 20:3214819-3214827 20:3234173-3234181
11 SLC4A11 NM_001174089.2(SLC4A11):c.430G>A (p.Ala144Thr)SNV Uncertain significance 225475 rs752287261 20:3214822-3214822 20:3234176-3234176

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

73 (show all 25)
# Symbol AA change Variation ID SNP ID
1 SLC4A11 p.Gly464Asp VAR_030662 rs121909389
2 SLC4A11 p.Ser489Leu VAR_030663 rs121909388
3 SLC4A11 p.Arg755Gln VAR_030664 rs121909387
4 SLC4A11 p.Arg869Cys VAR_030665 rs121909391
5 SLC4A11 p.Ala160Thr VAR_034945 rs752287261
6 SLC4A11 p.Arg804His VAR_034948 rs766567944
7 SLC4A11 p.Val824Met VAR_034949 rs757244518
8 SLC4A11 p.Thr833Met VAR_034950 rs142252617
9 SLC4A11 p.Arg869His VAR_034954 rs121909392
10 SLC4A11 p.Arg125His VAR_063713 rs127605162
11 SLC4A11 p.Ala269Val VAR_063714 rs129834714
12 SLC4A11 p.Cys386Arg VAR_063715
13 SLC4A11 p.Arg755Trp VAR_063716 rs757553189
14 SLC4A11 p.Pro773Leu VAR_063717 rs146511189
15 SLC4A11 p.Leu873Pro VAR_063718
16 SLC4A11 p.Arg209Trp VAR_064978 rs566507872
17 SLC4A11 p.Ser213Leu VAR_064979 rs759667344
18 SLC4A11 p.Arg233Cys VAR_064980 rs762942751
19 SLC4A11 p.Gly394Arg VAR_064981 rs780171125
20 SLC4A11 p.Thr401Lys VAR_064982
21 SLC4A11 p.Gly418Asp VAR_064983
22 SLC4A11 p.Leu473Arg VAR_064984
23 SLC4A11 p.Thr584Lys VAR_064985
24 SLC4A11 p.Glu143Lys VAR_067272 rs148263129
25 SLC4A11 p.Glu675Ala VAR_074015 rs749826950

Expression for Corneal Endothelial Dystrophy

Search GEO for disease gene expression data for Corneal Endothelial Dystrophy.

Pathways for Corneal Endothelial Dystrophy

GO Terms for Corneal Endothelial Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.8 TGFBI COL8A2 COL8A1

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

# Name GO ID Score Top Affiliating Genes
1 camera-type eye morphogenesis GO:0048593 9.16 COL8A2 COL8A1
2 epithelial cell proliferation GO:0050673 8.96 COL8A2 COL8A1
3 angiogenesis GO:0001525 8.92 TGFBI OVOL2 COL8A2 COL8A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 TGFBI COL8A2 COL8A1

Sources for Corneal Endothelial Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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