MCID: CRN025
MIFTS: 42

Corneal Dystrophy malady

Categories: Genetic diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy

Aliases & Descriptions for Corneal Dystrophy:

Name: Corneal Dystrophy 12 24 29 52 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:2566
ICD10 33 H18.5 H18.50
ICD9CM 35 371.5 371.50
MeSH 42 D003317

Summaries for Corneal Dystrophy

MalaCards based summary : Corneal Dystrophy is related to corneal dystrophy, avellino type and corneal dystrophy, thiel-behnke type. An important gene associated with Corneal Dystrophy is CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2), and among its related pathways/superpathways is Coregulation of Androgen receptor activity. The drugs Prednisolone and Loteprednol have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and testes, and related phenotype is vision/eye.

Wikipedia : 71 Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition... more...

Related Diseases for Corneal Dystrophy

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

(show top 50) (show all 133)
id Related Disease Score Top Affiliating Genes
1 corneal dystrophy, avellino type 33.6 GSN TGFBI TGIF1
2 corneal dystrophy, thiel-behnke type 33.6 CHST6 TGFBI TGIF1
3 corneal dystrophy, posterior polymorphous 2 33.4 COL8A2 SLC4A11 VSX1 ZEB1
4 epithelial basement membrane dystrophy 32.3 CHST6 GSN KRT3 TACSTD2 TGFBI
5 corneal endothelial dystrophy 32.0 CHST6 KRT12 KRT3 TACSTD2 TGFBI
6 corneal endothelial dystrophy 1, autosomal dominant 29.6 COL8A2 KRT3 OVOL2 SLC4A11 VSX1 ZEB1
7 macular corneal dystrophy 12.6
8 meesmann corneal dystrophy 12.5
9 corneal dystrophy, posterior polymorphous, 1 12.4
10 corneal dystrophy, lattice type i 12.4
11 corneal dystrophy, reis-bucklers type 12.4
12 corneal dystrophy, gelatinous drop-like 12.4
13 corneal dystrophy, epithelial basement membrane 12.4
14 corneal dystrophy, congenital stromal 12.4
15 corneal dystrophy, groenouw type i 12.3
16 corneal dystrophy, schnyder type 12.3
17 lattice corneal dystrophy 12.3
18 corneal dystrophy, subepithelial mucinous 12.3
19 corneal dystrophy, posterior amorphous 12.3
20 corneal dystrophy, lattice type iiia 12.2
21 corneal dystrophy, fuchs endothelial, 3 12.2
22 fuchs' endothelial dystrophy 12.2
23 corneal dystrophy, posterior polymorphous, 3 12.2
24 lattice corneal dystrophy type ii 12.2
25 corneal dystrophy, fuchs endothelial, 1 12.2
26 corneal dystrophy, fuchs endothelial, 6 12.2
27 corneal dystrophy, fuchs endothelial, 4 12.2
28 corneal dystrophy, fuchs endothelial, 8 12.1
29 corneal dystrophy, lisch epithelial 12.1
30 corneal dystrophy, endothelial, x-linked 12.1
31 corneal dystrophy, fuchs endothelial, 5 12.1
32 corneal dystrophy, fuchs endothelial, 2 12.0
33 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.0
34 pre-descemet corneal dystrophy 12.0
35 corneal fleck dystrophy 12.0
36 grayson-wilbrandt corneal dystrophy 11.9
37 honey-droplet corneal dystrophy 11.9
38 spinocerebellar degeneration and corneal dystrophy 11.9
39 corneal endothelial dystrophy and perceptive deafness 11.9
40 corneal dystrophy, fuchs endothelial, 7 11.8
41 corneal endothelial dystrophy 2, autosomal recessive 11.8
42 corneal dystrophy ichthyosis microcephaly mental retardation 11.7
43 corneal dystrophy pigmentary anomaly malabsorption 11.7
44 corneal granular dystrophy 11.7
45 corneodermatoosseous syndrome 11.6
46 bietti crystalline corneoretinal dystrophy 11.5
47 amyloidosis, finnish type 11.5
48 central cloudy dystrophy of francois 11.2
49 epithelial recurrent erosion dystrophy 11.1
50 tyrosinemia, type ii 11.1

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



Diseases related to Corneal Dystrophy

Symptoms & Phenotypes for Corneal Dystrophy

MGI Mouse Phenotypes related to Corneal Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.44 CHST6 COL8A2 CYP4V2 DCN KERA KRT12

Drugs & Therapeutics for Corneal Dystrophy

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

(show top 50) (show all 61)
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 Pharmaceutical Solutions Phase 4,Phase 1,Phase 2
5 Prednisolone acetate Phase 4,Phase 2
6 glucocorticoids Phase 4,Phase 2
7 Gastrointestinal Agents Phase 4,Phase 2
8 Neuroprotective Agents Phase 4,Phase 2
9 Tetrahydrozoline Phase 4,Phase 1,Phase 2
10 Hormone Antagonists Phase 4,Phase 2
11 Ophthalmic Solutions Phase 4,Phase 1,Phase 2
12 Hormones Phase 4,Phase 2
13 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
15 Anti-Allergic Agents Phase 4,Phase 2
16 Prednisolone hemisuccinate Phase 4,Phase 2
17 Prednisolone phosphate Phase 4,Phase 2
18 Protective Agents Phase 4,Phase 2,Phase 1
19 Antiemetics Phase 4,Phase 2
20 Anti-Inflammatory Agents Phase 4,Phase 2
21 Methylprednisolone acetate Phase 4,Phase 2
22 Methylprednisolone Hemisuccinate Phase 4,Phase 2
23 Autonomic Agents Phase 4,Phase 1,Phase 2
24 Antineoplastic Agents, Hormonal Phase 4,Phase 2
25
Riboflavin Approved, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
26 Vitamin B2 Nutraceutical Phase 3
27
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
28
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
29
Fluorometholone Approved Phase 2 426-13-1 9878
30
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
31
protease inhibitors Phase 2
32 Nasal Decongestants Phase 1, Phase 2
33 HIV Protease Inhibitors Phase 2
34 Vasoconstrictor Agents Phase 1, Phase 2
35 Respiratory System Agents Phase 1, Phase 2
36 Dexamethasone acetate Phase 2 1177-87-3
37 Dexamethasone 21-phosphate Phase 2
38 BB 1101 Phase 2
39
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
40 Antidotes Phase 1
41
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741 24759
42
Tetracycline Approved, Vet_approved 60-54-8 5353990
43
Doxycycline Approved, Investigational, Vet_approved 564-25-0 54671203
44 Adjuvants, Immunologic
45 Superoxide Dismutase
46 TIMP1 protein, human
47 TIMP3 protein, human
48 Tissue Inhibitor of Metalloproteinase-1
49 Tissue Inhibitor of Metalloproteinase-3
50 Tissue Inhibitor of Metalloproteinases

Interventional clinical trials:

(show top 50) (show all 61)
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 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy Terminated NCT02373397 Phase 4
6 The Effects of Corneal Collagen Cross-linking Recruiting NCT01708538 Phase 3
7 Utilization of Amniotic Membrane Extract Eye Drop (AMEED) on Human Corneal Healing Completed NCT02746848 Phase 1, Phase 2
8 Comparison of Two Steroid Regimens to Prevent Transplant Rejection After Corneal Transplant (DMEK) Completed NCT01448213 Phase 2
9 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone : Tolerance and Safety Pilot Study Recruiting NCT02834260 Phase 2
10 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
11 Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy Completed NCT00346853 Phase 1
12 Corneal Endothelium Morphology and Central Thickness in Type II Diabetes Mellitus and Normal Subjects Unknown status NCT01084850
13 Comparison of Corneal Grafts Cultured in Serum-free Versus Corneal Grafts Cultured in Serum Supplemented Culture Media Unknown status NCT00623584
14 Early Experience With Descemet's Stripping Automated Endothelial Keratoplasty Unknown status NCT00744796
15 Hyper-CL™ Lens (Hyper Osmotic Contact Lens) In Subjects Suffering From Corneal Edema Unknown status NCT01890252
16 Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044
17 Cornea Donor Study Unknown status NCT00006411
18 Comparing Endoglide to Endoserter for DSAEK Graft Insertion Unknown status NCT01791075
19 Observational Study of Corneal Opacities in Adults Unknown status NCT02109471
20 Transplantation of Tissue Cultured Human Amniotic Epithelial Cells Onto Damaged Ocular Surfaces Unknown status NCT00344708
21 Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases Completed NCT00357435
22 Combined Cataract Surgery and Planned Descemetorhexis Completed NCT02206594
23 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250
24 Optimizing the Ocular Surface Prior to Cataract Surgery Completed NCT02766907
25 Evaluation of Tomographic and Genetic Aspects of Keratoconus Patients Compared to Sounds Corneas Completed NCT03071302
26 Laser Assisted Procedures in Penetrating Keratoplasty Completed NCT02173847
27 ODM 5 in the Treatment of Corneal Edematous Fuchs' Endothelial Dystrophy Completed NCT02332109
28 Comparison of Two Techniques in Achieving Corneal Graft Completed NCT01610973
29 Study of Eye Bank Pre-cut Donor Grafts for Endothelial Keratoplasty Completed NCT00624221
30 A Comparison Between Full Thickness and Partial Thickness Corneal Transplantation for Corneal Edema Completed NCT00346138
31 Impact of Cataract Surgery on Keratoplasty Graft Survival Completed NCT02875145
32 Influence of Cosmetic Color Tinted Contact Lenses on the Ocular Surface Completed NCT01441648
33 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Recruiting NCT01795001
34 Descemet Membrane Endothelial Keratoplasty (DMEK) Recruiting NCT00521898
35 Descemet Stripping (Automated) Endothelial Keratoplasty (DSEK or DSAEK) Recruiting NCT00543660
36 Autologous Adipose-Derived Adult Stem Cell Transplantation for Corneal Diseases Recruiting NCT02932852 Early Phase 1
37 DSAEK- Postoperative Positioning and Transplant Dislocation Recruiting NCT01206127
38 Study of Using the Hyper-CL™ Lens (Hyper Osmotic Contact Lens) in Subjects Suffering From Corneal Edema Recruiting NCT02660151
39 Clinical Efficacy of the Pinhole Soft Contact Lenses for Correcting Presbyopia Recruiting NCT02612584
40 Topical Anesthesia for Closed PKP vs Retrobulbar Anesthesia for Open-sky PKP Recruiting NCT02826174
41 Study of Endothelial Keratoplasty Outcomes Recruiting NCT00800111
42 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
43 Spectral-domain Optical Coherence Tomography of the Eye Recruiting NCT02614625
44 Long Term Cornea Graft Survival Study Recruiting NCT02849808
45 Technique And Results In Endothelial Keratoplasty Recruiting NCT02470793
46 DISCOVER Study: Microscope-integrated Intraoperative OCT Study Recruiting NCT02423213
47 Metalloproteinases and Recurrent Corneal Erosion Syndrome Recruiting NCT02891694
48 The Natural History of Mucolipidosis Type IV Recruiting NCT01067742
49 Novel Diagnostics With Optical Coherence Tomography: Imaging the Anterior Eye Active, not recruiting NCT00343473
50 PIONEER: Intraoperative and Perioperative OCT Study Active, not recruiting NCT02423161

Search NIH Clinical Center for Corneal Dystrophy

Genetic Tests for Corneal Dystrophy

Genetic tests related to Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Corneal Dystrophy 29 24 CYP4V2

Anatomical Context for Corneal Dystrophy

MalaCards organs/tissues related to Corneal Dystrophy:

39
Endothelial, Eye, Testes, Skin, Kidney, Cerebellum

Publications for Corneal Dystrophy

Articles related to Corneal Dystrophy:

(show top 50) (show all 811)
id Title Authors Year
1
Thick keratoconic cornea associated with posterior polymorphous corneal dystrophy. ( 28089285 )
2017
2
Automated Retroillumination Photography Analysis for Objective Assessment of Fuchs Corneal Dystrophy. ( 27811565 )
2017
3
Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1. ( 28046031 )
2017
4
CTG18.1 Expansion in TCF4 Increases Likelihood of Transplantation in Fuchs Corneal Dystrophy. ( 27755191 )
2017
5
Photorefractive Keratectomy With Mitomycin C in Meesmann's Epithelial Corneal Dystrophy. ( 28068448 )
2017
6
Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI. ( 28060069 )
2017
7
Gelatinous drop-like corneal dystrophy: a review. ( 27913443 )
2017
8
Evaluation of Visual Quality in Patients With Fuchs Endothelial Corneal Dystrophy. ( 27631348 )
2016
9
Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients. ( 27075597 )
2016
10
Racial/Ethnic Differences in Rates of Penetrating or Endothelial Keratoplasty for Fuchs Endothelial Corneal Dystrophy Among US Medicare Beneficiaries. ( 27533017 )
2016
11
Clinical Features in Children with Posterior Polymorphous Corneal Dystrophy. ( 28009792 )
2016
12
TGFBI Gene Mutation Analysis in Chinese Families with Corneal Dystrophies. ( 27348782 )
2016
13
Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. ( 27382485 )
2016
14
Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family. ( 27439461 )
2016
15
SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations. ( 27925686 )
2016
16
Restoration of Mitochondrial Integrity, Telomere Length, and Sensitivity to Oxidation by In Vitro Culture of Fuchs' Endothelial Corneal Dystrophy Cells. ( 27802523 )
2016
17
Boston Type 1 Keratoprosthesis for Gelatinous Drop-Like Corneal Dystrophy. ( 26990741 )
2016
18
[TGC Repeats in Intron 2 of the TCF4 Gene have a Good Predictive Power Regarding to Fuchs Endothelial Corneal Dystrophy]. ( 26280645 )
2016
19
Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients. ( 26949635 )
2016
20
A Case of Transforming Growth Factor-I^-Induced Gene-Related Oculorenal Syndrome: Granular Corneal Dystrophy Type II with a Unique Nephropathy. ( 27781206 )
2016
21
Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies. ( 26961680 )
2016
22
Bilateral Atypical Granular Corneal Dystrophy Associated with Unilateral Keratoconus in a Male Child. ( 27555713 )
2016
23
Keratolimbal autograft transplantation as a possible new treatment of Lisch epithelial corneal dystrophy. ( 26928889 )
2016
24
Punctiform and Polychromatophilic Dominant Pre-Descemet Corneal Dystrophy. ( 26845315 )
2016
25
Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus. ( 27355326 )
2016
26
Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene. ( 27402970 )
2016
27
Fuchs Endothelial Corneal Dystrophy: A Systematic Immunofluorescence Study of Collagen Type VIII Suggests Heterogeneous Pathophysiology. ( 27078008 )
2016
28
pH Induced Conformational Transitions in the Transforming Growth Factor I^-Induced Protein (TGFI^Ip) Associated Corneal Dystrophy Mutants. ( 27030015 )
2016
29
Association of a Chromosomal Rearrangement Event with Mouse Posterior Polymorphous Corneal Dystrophy and Alterations in Csrp2bp, Dzank1, and Ovol2 Gene Expression. ( 27310661 )
2016
30
Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family. ( 27227392 )
2016
31
Clinical characterization of posterior polymorphous corneal dystrophy in patients of Indian ethnicity. ( 27658681 )
2016
32
Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2. ( 26989952 )
2016
33
New histopathologic and ultrastructural findings in Reis-BA1cklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene. ( 27590038 )
2016
34
Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6. ( 27829782 )
2016
35
Coenzyme Q10 in the Treatment of Corneal Edema in Kearns-Sayre: Is There an Application in Fuchs Endothelial Corneal Dystrophy? ( 27442316 )
2016
36
The Ultrastructures and Mechanical Properties of the Descement's Membrane in Fuchs Endothelial Corneal Dystrophy. ( 26980551 )
2016
37
Outcomes of photorefractive keratectomy instead of phototherapeutic keratectomy for patients with granular corneal dystrophy type 2. ( 27515941 )
2016
38
Macular Corneal Dystrophy and Posterior Corneal Abnormalities. ( 27755187 )
2016
39
In Vivo Imaging of Corneal Endothelial Dystrophy in Boston Terriers: A Spontaneous, Canine Model for Fuchs' Endothelial Corneal Dystrophy. ( 27454658 )
2016
40
Corneal Hydration Control in Fuchs' Endothelial Corneal Dystrophy. ( 27661858 )
2016
41
Fuchs endothelial corneal dystrophy: current perspectives. ( 26937169 )
2016
42
Author Response: Transforming Growth Factor Beta Switch in Aqueous Humor of Patients With Fuchs' Endothelial Corneal Dystrophy. ( 26927571 )
2016
43
Fuchs' endothelial corneal dystrophy: a controlled prospective study on visual recovery after endothelial keratoplasty. ( 27273977 )
2016
44
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD). ( 26828927 )
2016
45
Effect of Light Scattering and Higher-order Aberrations on Visual Performance in Eyes with Granular Corneal Dystrophy. ( 27086550 )
2016
46
4-Phenylbutyric acid reduces mutant-TGFBIp levels and ER stress through activation of ERAD pathway in corneal fibroblasts of granular corneal dystrophy type 2. ( 27373828 )
2016
47
Sensitive Surface Enhanced Raman Scattering-Based Detection of a BIGH3 Point Mutation Associated with Avellino Corneal Dystrophy. ( 27934116 )
2016
48
Visual Outcomes Following Deep Anterior Lamellar Keratoplasty in Granular Corneal Dystrophy Types 1 and 2. ( 27980368 )
2016
49
Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient. ( 27028151 )
2016
50
Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation. ( 27149532 )
2016

Variations for Corneal Dystrophy

Expression for Corneal Dystrophy

Search GEO for disease gene expression data for Corneal Dystrophy.

Pathways for Corneal Dystrophy

Pathways related to Corneal Dystrophy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.56 GSN TCF4 TGIF1

GO Terms for Corneal Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 8.92 COL8A2 DCN KERA TGFBI

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

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.35 CYP4V2 KERA TACSTD2 TGFBI VSX1
2 keratan sulfate biosynthetic process GO:0018146 9.16 CHST6 KERA
3 visual perception GO:0007601 9.1 CYP4V2 KERA KRT12 TACSTD2 TGFBI VSX1

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 8.62 DCN TGFBI

Sources for Corneal 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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