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MCID: RTN002
MIFTS: 34

Retinal Perforation

Categories: Eye diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Retinal Perforation

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MalaCards integrated aliases for Retinal Perforation:

Name: Retinal Perforation 12 15
Retinal Perforations 44 73
Retinal Dialysis 12
Retinal Break 12
Retinal Tear 12

Classifications:

MalaCards categories:
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:12514
MeSH 44 D012167
NCIt 50 C50732
SNOMED-CT 68 40024006 95690009
ICD10 33 H33.3
UMLS 73 C0035321
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Summaries for Retinal Perforation

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MalaCards based summary : Retinal Perforation, also known as retinal perforations, is related to retinal detachment and brittle bone disorder. An important gene associated with Retinal Perforation is PLEKHG5 (Pleckstrin Homology And RhoGEF Domain Containing G5), and among its related pathways/superpathways are Focal Adhesion and Degradation of the extracellular matrix. The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related phenotypes are growth/size/body region and craniofacial

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Related Diseases for Retinal Perforation

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Diseases related to Retinal Perforation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 retinal detachment 31.3 COL11A1 COL2A1 KCNJ13
2 brittle bone disorder 29.5 COL2A1 P3H1
3 myopia 29.5 COL11A1 COL11A2 COL2A1
4 stickler syndrome 29.4 COL11A1 COL11A2 COL2A1
5 stickler syndrome, type i, nonsyndromic ocular 10.3
6 vitreous detachment 10.3
7 macular holes 10.2
8 marshall syndrome 10.1 COL11A1 COL2A1
9 macroglossia 10.1 COL11A1 COL2A1
10 achondrogenesis, type ii 10.1 COL11A1 COL2A1
11 kniest dysplasia 10.1 COL11A1 COL2A1
12 hypochondrogenesis 10.0 COL11A1 COL2A1
13 eye degenerative disease 10.0 COL2A1 KCNJ13
14 donnai-barrow syndrome 10.0 COL11A1 COL2A1
15 spondyloepiphyseal dysplasia congenita 10.0 COL11A1 COL2A1
16 vitreoretinopathy, neovascular inflammatory 10.0
17 otospondylomegaepiphyseal dysplasia, autosomal recessive 9.9 COL11A2 COL2A1
18 panuveitis 9.9
19 toxoplasmosis 9.9
20 fibrochondrogenesis 9.9 COL11A1 COL11A2
21 bone development disease 9.9 COL2A1 P3H1
22 microvascular complications of diabetes 1 9.9
23 microvascular complications of diabetes 2 9.9
24 microvascular complications of diabetes 5 9.9
25 uveitis 9.9
26 vitreous syneresis 9.9 COL11A1 COL2A1 KCNJ13
27 vitreoretinal dystrophy 9.9 COL11A1 COL2A1 KCNJ13
28 vitreoretinal degeneration 9.9 COL11A1 COL2A1 KCNJ13
29 spinal stenosis 9.9 COL11A2 COL2A1
30 otospondylomegaepiphyseal dysplasia 9.8 COL11A1 COL11A2 COL2A1
31 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.8 COL11A1 COL11A2 COL2A1
32 coloboma of macula 9.8
33 exudative vitreoretinopathy 1 9.8
34 retinoblastoma 9.8
35 incontinentia pigmenti 9.8
36 retinitis pigmentosa-deafness syndrome 9.8
37 stuve-wiedemann syndrome 9.8
38 usher syndrome, type iid 9.8
39 ectodermal dysplasia 9.8
40 usher syndrome 9.8
41 cytomegalovirus retinitis 9.8
42 retinitis 9.8
43 unilateral retinoblastoma 9.8
44 chorioretinitis 9.8
45 col1a1/2-related osteogenesis imperfecta 9.8
46 ocular toxoplasmosis 9.8
47 cleft palate, isolated 9.8 COL11A1 COL11A2 COL2A1
48 campomelic dysplasia 9.8 COL11A2 COL2A1
49 sensorineural hearing loss 9.8 COL11A1 COL11A2 COL2A1
50 fuchs' heterochromic uveitis 9.8

Graphical network of the top 20 diseases related to Retinal Perforation:



Diseases related to Retinal Perforation
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Symptoms & Phenotypes for Retinal Perforation

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MGI Mouse Phenotypes related to Retinal Perforation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.63 COL11A1 COL11A2 COL2A1 ESCO2 KCNJ13 P3H1
2 craniofacial MP:0005382 9.56 COL11A1 COL11A2 COL2A1 KCNJ13
3 hearing/vestibular/ear MP:0005377 9.26 COL11A1 COL11A2 COL2A1 P3H1
4 skeleton MP:0005390 9.02 COL11A1 COL11A2 COL2A1 KCNJ13 P3H1
Sources

Drugs & Therapeutics for Retinal Perforation

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Drugs for Retinal Perforation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 88)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4,Not Applicable 216974-75-3
2 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
3 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4
Ranibizumab Approved Phase 3,Phase 2,Phase 1 347396-82-1 459903
5
Sulfamethazine Approved, Investigational, Vet_approved Phase 3 57-68-1 5327
6
Triamcinolone Approved, Vet_approved Phase 3,Phase 1,Phase 2 124-94-7 31307
7
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
8
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
9
Povidone-iodine Approved Phase 3 25655-41-8
10
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
11
leucovorin Approved Phase 3 58-05-9 6006 143
12
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 6433159
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
14 Immunologic Factors Phase 3,Phase 2,Phase 1
15 Fibrinolytic Agents Phase 3,Phase 2,Phase 1
16 Plasminogen Phase 3,Phase 2,Phase 1
17
protease inhibitors Phase 3
18 Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
19 Hormones Phase 3,Phase 1,Phase 2,Not Applicable
20 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
21 Antineoplastic Agents, Hormonal Phase 3,Not Applicable
22 Autonomic Agents Phase 3,Not Applicable
23 glucocorticoids Phase 3,Phase 1,Phase 2,Not Applicable
24 Anesthetics Phase 3,Not Applicable
25 Anti-Infective Agents Phase 3,Not Applicable
26 HIV Protease Inhibitors Phase 3
27 BB 1101 Phase 3
28 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1,Not Applicable
29 Peripheral Nervous System Agents Phase 3,Phase 2,Not Applicable
30 Triamcinolone hexacetonide Phase 3,Phase 1,Phase 2
31 Triamcinolone diacetate Phase 3,Phase 1,Phase 2
32 Gastrointestinal Agents Phase 3,Not Applicable
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1,Phase 2,Not Applicable
34 Antiemetics Phase 3,Not Applicable
35 triamcinolone acetonide Phase 3,Phase 1,Phase 2
36 Antirheumatic Agents Phase 3,Phase 2
37 Folate Phase 3
38 Vitamin B9 Phase 3
39 Vitamin B Complex Phase 3
40 Antimetabolites, Antineoplastic Phase 3
41 Antimetabolites Phase 3
42 Folic Acid Antagonists Phase 3
43 Dermatologic Agents Phase 3
44 Nucleic Acid Synthesis Inhibitors Phase 3
45
Bromfenac Approved July 1997 Phase 2 91714-94-2 60726
46
Fibrinolysin Investigational Phase 2 9004-09-5
47 Anti-Inflammatory Agents, Non-Steroidal Phase 2
48 Analgesics Phase 2
49 Analgesics, Non-Narcotic Phase 2
50 Ophthalmic Solutions Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 121)
# Name Status NCT ID Phase Drugs
1 Study of Surgery in Patients With Idiopathic Macular Hole Unknown status NCT02905409 Phase 4
2 Effects of Different Area of Internal Limiting Membrane Peeling (ILM) Peeling on Anatomical Outcomes in Macular Hole Surgery Completed NCT02930369 Phase 4
3 Prospective Randomized Controlled Study of Intravitreal Injection of Bevacizumab for Proliferative Diabetic Retinopathy Completed NCT01854593 Phase 4 Bevacizumab
4 Day Regimes of CONbercept on CytokinEs of PDR Patients Undergoing Vitrectomy - Trial (CONCEPT) Recruiting NCT03506750 Phase 4 IVC
5 Evaluation of Ranibizumab in Proliferative Diabetic Retinopathy (PDR) Requiring Vitrectomy Unknown status NCT00516464 Phase 3 Lucentis (ranibizumab)
6 Safety and Efficacy of Double Staining With Brilliant Blue G for Macular Surgery Unknown status NCT01820520 Phase 3 brilliant blue G
7 Brilliant Blue Versus Indocyanine Green Unknown status NCT01083004 Phase 3
8 Double-dose Ranibizumab for Polypoidal Choroidal Vasculopathy Unknown status NCT02769169 Phase 2, Phase 3 Lucentis® (Raibizumab) double-dose;Lucentis® (Raibizumab) regular-dose
9 Trial of Microplasmin Intravitreal Injection for Non-surgical Treatment of Focal Vitreomacular Adhesion. The MIVI-TRUST (TG-MV-006) Trial. Completed NCT00781859 Phase 3 125 µg Ocriplasmin;Placebo
10 Ocriplasmin for Treatment for Symptomatic Vitreomacular Adhesion Including Macular Hole Completed NCT01429441 Phase 3 Ocriplasmin
11 Association of Lutein, Zeaxanthin and Brilliant Blue in Chromovitrectomy Completed NCT01627977 Phase 3
12 SUSTAIN - Study of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization Secondary to Age-Related Macular Degeneration Completed NCT00331864 Phase 3 Ranibizumab
13 PeriOcular and INTravitreal Corticosteroids for Uveitic Macular Edema Trial Completed NCT02374060 Phase 3 Periocular triamcinolone 40 mg;Intravitreal triamcinolone 4 mg;Dexamethasone intravitreal implant
14 Macular Edema Ranibizumab v. Intravitreal Anti-inflammatory Therapy Trial Recruiting NCT02623426 Phase 3 Dexamethasone intravitreal implant 0.7 mg;Intravitreal Methotrexate 400 µg;Intravitreal Ranibizumab 0.5 mg
15 Safety and Efficacy of Intravitreal Ranibizumab as a Preoperative Adjunct Treatment Before Vitrectomy Surgery in Proliferative Diabetic Retinopathy (PDR) Compared to Vitrectomy Alone Unknown status NCT00931125 Phase 2 ranibizumab and vitrectomy
16 Combination Ranibizumab and Bromfenac for Neovascular Age-related Macular Degeneration Completed NCT00805233 Phase 2 combination ranibizumab + bromfenac;ranibizumab injection alone
17 A Study of the Safety and Efficacy of Microplasmin to Induce a Posterior Vitreous Detachment (MIVI III) Completed NCT00412958 Phase 2 Ocriplasmin 25µg;Ocriplasmin 75µg;Ocriplasmin 125µg;Placebo
18 20089 TA+Lucentis Combo Intravitreal Injections for Treatment of Neovascular Age-related Macular Degeneration (AMD) Completed NCT01175395 Phase 1, Phase 2 IBI-20089/Lucentis
19 Head Positioning After Retina Detachment Repair Recruiting NCT03714503 Phase 2
20 Effects of Pneumatic Vitreolysis on Macular Hole Recruiting NCT03677869 Phase 2
21 Analysis of Aqueous and Vitreous Humor Recruiting NCT02067013 Phase 2 Ranibizumab
22 Study of Denufosol (INS37217) in Subjects With Rhegmatogenous Retinal Detachment Terminated NCT00083967 Phase 2 denufosol tetrasodium (INS37217) Intravitreal Injection
23 Study of OT-551 Eye Drops to Prevent or Delay Progression of Nuclear Cataracts Following Vitreous Removal Terminated NCT00333060 Phase 2 OT-551 ophthalmic solution
24 Efficacy and Safety Study of CNTO 2476 in Participants With Visual Acuity Impairment Associated With Geographic Atrophy (GA) Secondary to Age Related Macular Degeneration (AMD) Withdrawn NCT02895815 Phase 2
25 Partial Posterior Hyaloidectomy in Macular Surgery Completed NCT01454466 Phase 1
26 Ranibizumab in Hemorrhagic Choroidal Neovascularization Trial Completed NCT00363168 Phase 1 Ranibizumab;Ranibizumab
27 Surgical Stabilizer Assisted RVC With rtPA for CRVO Not yet recruiting NCT03417401 Phase 1 Intravenous Infusion
28 Short Term Postoperative Tamponade Using Perfluorocarbon Liquid for Giant Retinal Tears Unknown status NCT01604616
29 Early Vitrectomy for Impending Macular Hole Unknown status NCT01121965 Not Applicable
30 Double Endotamponade With Perfluorodecalin and Silicone Oil in Retinal Detachment Surgery. Unknown status NCT01959568 Not Applicable
31 Macular Hole Surgery With and Without Internal Limiting Membrane Peeling：A Systematic Review and Meta-analysis Unknown status NCT01687829
32 The Intravitreal Autologous Platelet Concentrate Injection as an Adjunct of Vitrectomy for the Treatment of Refractory Macular Holes Unknown status NCT02081170 Not Applicable
33 Inverted ILM Repositioning as Treatment for Full Thickness Macular Holes Unknown status NCT01228188 Not Applicable
34 Comparison of Postoperative Aqueous Flare After 20G Versus 23G Pars Plana Vitrectomy Unknown status NCT01969929 Not Applicable
35 Triple Therapy for Diffuse Diabetic Macular Edema Unknown status NCT01218750 Not Applicable
36 Optical Coherence Tomography - Rescan During Dissection of Macular Membranes Unknown status NCT02748421 Not Applicable
37 Inverted Internal Limiting Membrane Flap Technique for Macular Hole Retinal Detachment in Highly Myopic Eyes Completed NCT02896972 Not Applicable
38 Vitrectomy and Scleral Shortening for Macular Hole Retinal Detachment or Myopic Traction Maculopathy Completed NCT02528045
39 Topical Use of Corticosteroid to Prevent Epiretinal Membrane Following Retinal Tear Completed NCT02412059 Not Applicable Prednisolone acetate
40 Internal Limiting Membrane Flap in the Management of Retinal Detachment Due to Paracentral Retinal Breaks Completed NCT03707015
41 Evaluation of a New Surgical Technique for Macular Hole Which Was Not Closed After a Previous Surgery Completed NCT02946372 Not Applicable
42 Scleral Self-indentation Chandelier-assisted Peripheral Vitrectomy Under Air Rhegmatogenous Retinal Detachment. Completed NCT03218371
43 Optical Coherence Tomography in Gas-filled Eyes Completed NCT01266746
44 Impact of C3F8 or SF6 Use and Length of Face-down Positioning (7 vs 14 Days Respectively) in Macular Hole Surgery Completed NCT02073266 Not Applicable
45 Comparison of Small-gauge Vitrectomy and Conventional Vitrectomy for Proliferative Diabetic Retinopathy Completed NCT01758757 Not Applicable
46 Outcomes of Vitrectomy in Pediatric Retinal Detachment With Proliferative Vitreoretinopathy Completed NCT03208205
47 Ultrastructure Analysis of Excised Internal Limiting Membrane in Eyes of Highly Myopia With Myopic Traction Maculopathy Completed NCT02528058
48 27-gauge Vitrectomy Wound Integrity: a Prospective, Randomized Trial Comparing Angled Versus Straight Entry Completed NCT02836210 Not Applicable
49 Ocular Safety Of Patients Receiving Macugen For Neovascular Age Related Macular Degeneration Completed NCT00460408 Macugen
50 The Application of M-charts and Microperimetry for the Assessment of Visual Function in Patients After Vitrectomy Due to the Full Thickness Macular Hole. Completed NCT03701542

Search NIH Clinical Center for Retinal Perforation

Cochrane evidence based reviews: retinal perforations

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Genetic Tests for Retinal Perforation

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Anatomical Context for Retinal Perforation

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MalaCards organs/tissues related to Retinal Perforation:

41
Eye, Bone
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Publications for Retinal Perforation

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Articles related to Retinal Perforation:

# Title Authors Year
1
Retinal perforation in strabismus surgery. ( 9083958 )
1997
2
Choroidal melanoma with retinal perforation and vitreous hemorrhage: a scanning electron microscopic study. ( 6656013 )
1983
3
Retinal perforation and muscle surgery. ( 5481593 )
1970
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Variations for Retinal Perforation

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Expression for Retinal Perforation

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Search GEO for disease gene expression data for Retinal Perforation.
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Pathways for Retinal Perforation

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Pathways related to Retinal Perforation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Focal Adhesion 1 37
Show member pathways
 12.31 COL11A1 COL11A2 COL2A1
2
Degradation of the extracellular matrix 66
Show member pathways
 11.91 COL11A1 COL11A2 COL2A1 P3H1
3
Collagen chain trimerization 66
Show member pathways
 11.74 COL11A1 COL11A2 COL2A1 KCNJ13 P3H1
4
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 11.6 COL11A1 COL11A2 COL2A1
5
Neural Crest Differentiation 1
11.16 COL11A2 COL2A1
6
G-protein signaling_Rap2B regulation pathway 22
10.34 COL11A1 COL11A2 COL2A1
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GO Terms for Retinal Perforation

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Cellular components related to Retinal Perforation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.5 COL11A1 COL11A2 COL2A1
2 collagen-containing extracellular matrix GO:0062023 9.43 COL11A1 COL11A2 COL2A1
3 collagen trimer GO:0005581 9.33 COL11A1 COL11A2 COL2A1
4 endoplasmic reticulum lumen GO:0005788 9.26 COL11A1 COL11A2 COL2A1 P3H1
5 collagen type XI trimer GO:0005592 8.62 COL11A1 COL11A2

Biological processes related to Retinal Perforation according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.61 COL11A1 COL11A2 COL2A1
2 ossification GO:0001503 9.54 COL11A1 COL2A1
3 roof of mouth development GO:0060021 9.52 COL11A2 COL2A1
4 inner ear morphogenesis GO:0042472 9.51 COL11A1 COL2A1
5 sensory perception of sound GO:0007605 9.5 COL11A1 COL11A2 COL2A1
6 bone development GO:0060348 9.49 COL2A1 P3H1
7 heart morphogenesis GO:0003007 9.48 COL11A1 COL2A1
8 chondrocyte differentiation GO:0002062 9.46 COL11A2 COL2A1
9 tissue homeostasis GO:0001894 9.4 COL11A2 COL2A1
10 cartilage condensation GO:0001502 9.37 COL11A1 COL2A1
11 cartilage development GO:0051216 9.33 COL11A1 COL11A2 COL2A1
12 proteoglycan metabolic process GO:0006029 9.26 COL11A1 COL2A1
13 collagen fibril organization GO:0030199 9.13 COL11A1 COL11A2 COL2A1
14 skeletal system morphogenesis GO:0048705 8.8 COL11A1 COL11A2 COL2A1

Molecular functions related to Retinal Perforation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding, bridging GO:0030674 9.16 COL11A1 COL11A2
2 extracellular matrix structural constituent GO:0005201 9.13 COL11A1 COL11A2 COL2A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL11A1 COL11A2 COL2A1
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Sources for Retinal Perforation

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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