MCID: IRD003
MIFTS: 27

Iridocorneal Endothelial Syndrome

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Iridocorneal Endothelial Syndrome

MalaCards integrated aliases for Iridocorneal Endothelial Syndrome:

Name: Iridocorneal Endothelial Syndrome 52 58
Ice Syndrome 52 58
Ichthyosis--Cheek--Eyebrow Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
iridocorneal endothelial syndrome
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 D057129
ICD10 via Orphanet 33 H21.1
UMLS via Orphanet 72 C0339285 C1096100
Orphanet 58 ORPHA64734
UMLS 71 C1840283

Summaries for Iridocorneal Endothelial Syndrome

NIH Rare Diseases : 52 Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features: Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye) Swelling of the cornea, and The development of glaucoma (a disease that can cause severe vision loss when normal fluid inside the eye cannot drain properly) ICE syndrome, is more common in women than men, most commonly diagnosed in middle age, and is usually present in only one eye. The condition is actually a grouping of three closely linked conditions: Cogan-Reese syndrome ; Chandler's syndrome ; and essential (progressive) iris atrophy. The cause of ICE syndrome is unknown, however there is a theory that it is triggered by a virus that leads to swelling of the cornea. While there is no way to stop the progression of the condition, treatment of the symptoms may include medication for glaucoma and corneal transplant for corneal swelling.

MalaCards based summary : Iridocorneal Endothelial Syndrome, also known as ice syndrome, is related to corneal endothelial dystrophy and corneal edema. An important gene associated with Iridocorneal Endothelial Syndrome is KRT3 (Keratin 3). The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and retina.

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

Related Diseases for Iridocorneal Endothelial Syndrome

Diseases related to Iridocorneal Endothelial Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 corneal endothelial dystrophy 11.9
2 corneal edema 10.8
3 essential iris atrophy 10.7
4 cogan-reese syndrome 10.6
5 intraocular pressure quantitative trait locus 10.5
6 ectropion 10.4
7 keratopathy 10.4
8 bullous keratopathy 10.4
9 herpes simplex 10.3
10 corneal disease 10.3
11 keratoconus 10.3
12 corneal dystrophy, posterior polymorphous, 1 10.2
13 glaucoma, primary open angle 10.2
14 astigmatism 10.2
15 melanoma, cutaneous malignant 10 10.2
16 open-angle glaucoma 10.2
17 axenfeld-rieger syndrome 10.2
18 melanoma 10.2
19 macular retinal edema 10.2
20 cataract 10.2
21 ocular hypertension 10.2
22 scotoma 10.2
23 ichthyosis--cheek--eyebrow syndrome 10.0
24 keratitis, hereditary 10.0
25 corneal dystrophy, band-shaped 10.0
26 3-methylglutaconic aciduria, type iii 10.0
27 branchiootic syndrome 1 10.0
28 pars planitis 10.0
29 secondary corneal edema 10.0
30 fuchs' endothelial dystrophy 10.0
31 uveitis 10.0
32 primary angle-closure glaucoma 10.0
33 iritis 10.0
34 vascular disease 10.0
35 optic nerve disease 10.0
36 corneal dystrophy 10.0
37 malignant iris melanoma 10.0
38 hyperthyroidism 10.0
39 herpes zoster 10.0
40 measles 10.0
41 glaucomatocyclitic crisis 10.0
42 47,xyy 10.0
43 adamtsl4-related eye disorders 10.0
44 farsightedness 10.0
45 overgrowth syndrome 10.0
46 ichthyosis 9.8
47 aniridia 1 9.7
48 ichthyosis vulgaris 9.7
49 juvenile glaucoma 9.7

Graphical network of the top 20 diseases related to Iridocorneal Endothelial Syndrome:



Diseases related to Iridocorneal Endothelial Syndrome

Symptoms & Phenotypes for Iridocorneal Endothelial Syndrome

Drugs & Therapeutics for Iridocorneal Endothelial Syndrome

Drugs for Iridocorneal Endothelial Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
Cysteine Approved, Nutraceutical Phase 2 52-90-4 5862
3 Pharmaceutical Solutions Phase 2
4 Ophthalmic Solutions Phase 2
5 Respiratory System Agents Phase 2
6 Anti-Infective Agents Phase 2
7 Antidotes Phase 2
8 Expectorants Phase 2
9 Antioxidants Phase 2
10 Antiviral Agents Phase 2
11 Protective Agents Phase 2
12 Lubricant Eye Drops Phase 2
13 N-monoacetylcystine Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 A Double-Masked, Randomised, Placebo-Controlled, Parallel-Group, 12 Week, Phase 2 Study to Investigate the Safety and Efficacy of K-321 Eye Drops After Descemetorhexis in Patients With Fuchs Endothelial Corneal Dystrophy Recruiting NCT04250207 Phase 2 K-321 Solution;Placebo Solution
3 Targeting Reactive Oxygen Species Production as a Novel Therapeutic in Fuch's Endothelial Corneal Dystrophy Not yet recruiting NCT04440280 Phase 2 N-acetyl cysteine (NAC) 10% solution;N-acetyl cysteine (NAC) 20% solution;Visine Dry Eye Relief eye drops
4 Prospective Clinical Study on Postoperative Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044
5 Anomalies of the Anterior Chamber, Angle, Iris, Cornea and Lens With or Without Glaucoma or Ocular Hypertension Completed NCT00001161
6 Open-enrollment, Prospective Study of Endothelial Keratoplasty Outcomes Completed NCT00800111
7 A Multi-center Study on Iridocorneal Endothelial (ICE) Syndrome in China Recruiting NCT03270761
8 Heidelberg Retina Tomograph (HRT) in Vivo Confocal Microscopy to Evaluate the Ocular Surface Disorders of Healthy and Diseased Individuals Not yet recruiting NCT04025801

Search NIH Clinical Center for Iridocorneal Endothelial Syndrome

Genetic Tests for Iridocorneal Endothelial Syndrome

Anatomical Context for Iridocorneal Endothelial Syndrome

MalaCards organs/tissues related to Iridocorneal Endothelial Syndrome:

40
Endothelial, Eye, Retina, Testes

Publications for Iridocorneal Endothelial Syndrome

Articles related to Iridocorneal Endothelial Syndrome:

(show top 50) (show all 213)
# Title Authors PMID Year
1
Clinical description of a Cogan-Reese type iridocorneal endothelial syndrome using anterior segment optical coherence tomography and specular microscopy. 61
32576400 2020
2
Surgical outcomes of Ahmed glaucoma valve implantation in patients with glaucoma secondary to iridocorneal endothelial syndrome. 61
32367005 2020
3
Metagenomic Deep Sequencing to Investigate for an Infectious Etiology of Iridocorneal Endothelial Syndrome. 61
32398422 2020
4
Outcomes of Ahmed Glaucoma Drainage Implant in Eyes with Glaucoma Secondary to Iridocorneal Endothelial Syndrome. 61
32251072 2020
5
XEN Gel Stent to Treat ICE Syndrome: 4 Cases. 61
32229787 2020
6
Letter: XEN Gel Stent to Treat ICE Syndrome. 61
31977542 2020
7
Erratum: Iridocorneal endothelial syndrome: Evaluation of patient demographics and endothelial morphology by in vivo confocal microscopy in an Indian cohort. 61
32057033 2020
8
Bilateral Chandler's syndrome: Uncommon entity diagnosed by ultrasound biomicroscopy and confocal microscopy. 61
32057025 2020
9
Graft Survival After Penetrating and Endothelial Keratoplasty in Iridocorneal Endothelial Syndrome. 61
31335531 2020
10
Microscope Integrated Intraoperative Optical Coherence Tomography-Guided DMEK in Corneas with Poor Visualization. 61
32184553 2020
11
Ex-PRESS mini-shunt implanted in a pregnant patient with iridocorneal endothelial syndrome. 61
30618278 2020
12
Response: "XEN Gel Stent to Treat ICE Syndrome: 4 Cases". 61
31977543 2020
13
XEN Gel Stent to Treat ICE Syndrome: 4 Cases. 61
31425336 2019
14
Iridocorneal endothelial syndrome in a patient with keratoconus - a case report. 61
31711443 2019
15
Iridocorneal endothelial syndrome: Evaluation of patient demographics and endothelial morphology by in vivo confocal microscopy in an Indian cohort. 61
31007217 2019
16
Commentary: In vivo confocal microscopy in iridocorneal endothelial syndrome. 61
31007218 2019
17
Case Report: Iridocorneal Endothelial Syndrome Progression Documented by Anterior Segment Optical Coherence Tomography. 61
30907858 2019
18
Descemet membrane endothelial keratoplasty in iridocorneal endothelial syndrome and posterior polymorphous corneal dystrophy. 61
30975342 2019
19
Cogan-Reese syndrome: image analysis with specular microscopy, optical coherence tomography, and ultrasound biomicroscopy. 61
31327934 2019
20
Primary implantation of non-valved glaucoma-drainage-device in sulcus in iridocorneal endothelial syndrome. 61
31741874 2019
21
Descemet membrane endothelial keratoplasty for treatment of iridocorneal endothelial syndrome. 61
30502999 2018
22
Unique variations and characteristics of iridocorneal endothelial syndrome in China: a case series of 58 patients. 61
28993974 2018
23
The iridocorneal endothelial syndrome. 61
29331589 2018
24
Atypical Presentation of Iridocorneal Endothelial Syndrome With Band Keratopathy but No Corneal Edema Managed With Descemet Membrane Endothelial Keratoplasty. 61
29668572 2018
25
Clinical outcome of Descemet stripping automated endothelial keratoplasty in 18 cases with iridocorneal endothelial syndrome. 61
29243737 2018
26
[Differential diagnosis and treatment of Chandler iridocorneal endothelial syndrome]. 61
29543203 2018
27
Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature. 61
27929720 2018
28
Etiological mechanism of iridocorneal endothelial (ICE) syndrome may involve infection of herpes simplex virus (HSV) and integration of viral genes into human genome. 61
29317068 2018
29
Iridocorneal endothelial syndrome: clinical perspectives. 61
29670326 2018
30
Retinoinvasive Uveal Melanoma: Report of 2 Cases and Review of the Literature. 61
29344483 2017
31
Surgical outcomes of patients with iridocorneal endothelial syndrome: a case series. 61
27495952 2017
32
ICE-Syndrome: A Case Report of Implantation of a Microbypass Xen Gel Stent After DMEK Transplantation. 61
27841796 2017
33
Iridocorneal Endothelial Syndrome Presenting With Large Diurnal Intraocular Pressure Fluctuation. 61
27977477 2017
34
Glaucoma associated with iridocorneal endothelial syndrome in 203 Indian subjects. 61
28282413 2017
35
[Diagnostic methods in the clinical evaluation of iridocorneal endothelial syndrome]. 61
27023272 2016
36
Concurrent Acute Retinal Necrosis in a Patient With Iridocorneal Endothelial Syndrome. 61
27362881 2016
37
Cystoid macular edema associated with iridocorneal endothelial syndrome: a case report. 61
27585567 2016
38
Post Filtering Surgery Globe Massage-induced Keratoconus in an Eye with Iridocorneal Endothelial Syndrome: A Case Report and Literature Brief Review. 61
27621792 2016
39
Outcomes of Primary Trabeculectomy With Mitomycin-C in Glaucoma Secondary to Iridocorneal Endothelial Syndrome. 61
25943731 2016
40
Trabeculectomy with Mitomycin-C in Patients with Iridocorneal Endothelial Syndrome: A Case Series. 61
27437260 2016
41
Iridocorneal Endothelial Syndrome in a 14-Year-Old Male. 61
26035422 2016
42
A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment. 61
27536058 2016
43
Graft Failure and Intraocular Pressure Control After Keratoplasty in Iridocorneal Endothelial Syndrome. 61
26514395 2016
44
Boston Type 1 Keratoprosthesis for Iridocorneal Endothelial Syndromes. 61
26398156 2015
45
Descemet Stripping Endothelial Keratoplasty in Iridocorneal Endothelial Syndrome: Postoperative Complications and Long-Term Outcomes. 61
26203744 2015
46
Graft failure and intraocular pressure control after keratoplasty in iridocorneal endothelial syndrome. 61
26032193 2015
47
ICE SYNDROME--CASE REPORT. 61
26978875 2015
48
Retinitis pigmentosa with concomitant essential iris atrophy and glaucoma - case report. 61
26648683 2015
49
Diagnosis and Management of Iridocorneal Endothelial Syndrome. 61
26451377 2015
50
Evolving indications for Descemet's stripping automated endothelial keratoplasty. 61
24871355 2014

Variations for Iridocorneal Endothelial Syndrome

Expression for Iridocorneal Endothelial Syndrome

Search GEO for disease gene expression data for Iridocorneal Endothelial Syndrome.

Pathways for Iridocorneal Endothelial Syndrome

GO Terms for Iridocorneal Endothelial Syndrome

Sources for Iridocorneal Endothelial Syndrome

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
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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
Content
Loading form....