MCID: VTR008
MIFTS: 33

Vitreoretinal Degeneration malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Vitreoretinal Degeneration

Aliases & Descriptions for Vitreoretinal Degeneration:

Name: Vitreoretinal Degeneration 50 29 69

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


Summaries for Vitreoretinal Degeneration

MalaCards based summary : Vitreoretinal Degeneration is related to stickler syndrome, type v and snowflake vitreoretinal degeneration. An important gene associated with Vitreoretinal Degeneration is KCNJ13 (Potassium Voltage-Gated Channel Subfamily J Member 13), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Dexamethasone and Ranibizumab have been mentioned in the context of this disorder. Related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Vitreoretinal Degeneration

Diseases in the Vitreoretinal Degeneration family:

Secondary Vitreoretinal Degeneration

Diseases related to Vitreoretinal Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
id Related Disease Score Top Affiliating Genes
1 stickler syndrome, type v 31.2 COL11A1 COL9A2
2 snowflake vitreoretinal degeneration 12.5
3 myopia, high, with cataract and vitreoretinal degeneration 12.3
4 secondary vitreoretinal degeneration 12.0
5 wagner syndrome 1 11.6
6 wagner syndrome 11.1
7 knobloch syndrome, type 1 11.0
8 stickler syndrome, type i 10.9
9 marshall syndrome 10.2 COL11A1 COL2A1
10 neonatal abstinence syndrome 10.2 COL2A1 KCNJ13
11 fibrochondrogenesis 1 10.2 COL11A1 COL2A1
12 deafness, autosomal dominant 13 10.2 COL11A1 COL2A1
13 laryngomalacia 10.1 COL11A1 COL2A1
14 epiphyseal dysplasia, multiple, with myopia and deafness 10.1 COL11A1 COL2A1
15 albright's hereditary osteodystrophy 10.1 COL11A1 COL2A1
16 smed strudwick type 10.1 COL11A1 COL2A1
17 neuropathy, distal hereditary motor, type iia 10.1 COL11A1 COL2A1
18 acromesomelic dysplasia 10.1 COL2A1 COL9A2
19 maternally-inherited mitochondrial dystonia 10.1 COL11A1 COL9A2
20 plantar nerve lesion 10.1 COL11A1 COL2A1 KCNJ13
21 ureter cancer 10.1 COL11A1 COL2A1 KCNJ13
22 adult-onset still's disease 10.1 COL11A1 COL2A1 KCNJ13
23 clubfoot 10.0 COL11A1 COL2A1 P3H2
24 retinitis 10.0
25 retinal detachment 10.0
26 syngnathia cleft palate 10.0 COL11A1 COL9A2
27 intermediate uveitis 10.0 COL2A1 COL9A2
28 bone structure disease 10.0 COL2A1 COL9A2
29 charcot-marie-tooth disease type 5 9.9 COL11A1 COL2A1 COL9A2
30 anterograde amnesia 9.9 COL11A1 COL18A1 COL2A1 KCNJ13
31 physical disorder 9.9 COL2A1 COL9A2
32 night blindness 9.7
33 neuropathy 9.7
34 chorioretinitis 9.7
35 cleft lip 9.7
36 knobloch syndrome 9.7
37 skeletal dysplasias 9.7
38 skeletal dysplasia 9.7
39 alport syndrome 9.7
40 congenital ectropion uveae 9.7
41 stickler syndrome 9.7
42 ectropion 9.7
43 moyamoya disease 9.4 CD55 COL11A1 COL2A1 COL4A3 CXADR KCNJ13
44 warm antibody hemolytic anemia 8.8 CD55 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2

Graphical network of the top 20 diseases related to Vitreoretinal Degeneration:



Diseases related to Vitreoretinal Degeneration

Symptoms & Phenotypes for Vitreoretinal Degeneration

MGI Mouse Phenotypes related to Vitreoretinal Degeneration:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 CD55 COL2A1 COL4A3 COL9A2 CXADR KCNJ13
2 hearing/vestibular/ear MP:0005377 9.26 COL11A1 COL2A1 COL4A3 COL9A2
3 limbs/digits/tail MP:0005371 8.92 COL11A1 COL2A1 COL4A3 COL9A2

Drugs & Therapeutics for Vitreoretinal Degeneration

Drugs for Vitreoretinal Degeneration (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 94)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 50-02-2 5743
2
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1 347396-82-1 459903
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Verteporfin Approved, Investigational Phase 4,Phase 3,Phase 2 129497-78-5
5
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 124-94-7 31307
6
Temazepam Approved Phase 4 846-50-4 5391
7
Povidone-iodine Approved Phase 4,Phase 3 25655-41-8
8 Dexamethasone acetate Phase 4,Phase 2,Phase 3 1177-87-3
9 glucocorticoids Phase 4,Phase 2,Phase 3,Phase 1
10
protease inhibitors Phase 4,Phase 2,Phase 3
11 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
12 HIV Protease Inhibitors Phase 4,Phase 2,Phase 3
13 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
14 Dexamethasone 21-phosphate Phase 4,Phase 2,Phase 3
15 Hormones Phase 4,Phase 2,Phase 3,Phase 1
16 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3
17 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
19 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1
20 Antiemetics Phase 4,Phase 2,Phase 3
21 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
22 BB 1101 Phase 4,Phase 2,Phase 3
23 Autonomic Agents Phase 4,Phase 2,Phase 3
24 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3
25 triamcinolone acetonide Phase 4,Phase 3,Phase 2,Phase 1
26 GABA Agents Phase 4
27 GABA Modulators Phase 4
28 Neurotransmitter Agents Phase 4
29 Dermatologic Agents Phase 4,Phase 3
30 Tranquilizing Agents Phase 4
31 Anesthetics Phase 4,Phase 3
32 Triamcinolone diacetate Phase 4,Phase 3,Phase 2,Phase 1
33 Triamcinolone hexacetonide Phase 4,Phase 3,Phase 2,Phase 1
34 Anesthetics, Local Phase 4
35 Anti-Anxiety Agents Phase 4
36 Hypnotics and Sedatives Phase 4
37 Photosensitizing Agents Phase 4,Phase 3
38 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
39 Psychotropic Drugs Phase 4
40 Central Nervous System Depressants Phase 4
41 Anti-Infective Agents Phase 4,Phase 2,Phase 3
42
Ephedrine Approved Phase 2, Phase 3 299-42-3 9294
43
Pseudoephedrine Approved Phase 2, Phase 3 90-82-4 7028
44
Bevacizumab Approved, Investigational Phase 2, Phase 3, Phase 1 216974-75-3
45
Doxycycline Approved, Investigational, Vet_approved Phase 2, Phase 3 564-25-0 54671203
46
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
47
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
48
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
49 Mitogens Phase 3,Phase 2
50 Nasal Decongestants Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 77)
id Name Status NCT ID Phase
1 A Long-Term Monitoring Study of the IMT-002 Patients Completed NCT00976235 Phase 4
2 Postoperative Pain Control Following Vitreoretinal Surgery Completed NCT01995045 Phase 4
3 20- Versus 23- Gauge System for Pars Plana Vitrectomy Completed NCT00411970 Phase 4
4 Analysis of Cytokines in Response to Treatment of Diabetic Macular Edema With 0.3mg Lucentis Recruiting NCT03097068 Phase 4
5 PeriOcular and INTravitreal Corticosteroids for Uveitic Macular Edema Trial Recruiting NCT02374060 Phase 4
6 Cytokine and Visual Outcome Variations in Eyes Receiving Ranibizumab Not yet recruiting NCT03056092 Phase 4
7 Cytokine and Visual Outcome Variations in Eyes Receiving Aflibercept Not yet recruiting NCT03056079 Phase 4
8 Lucentis Utilizing Visudyne (LUV Trial) Combination Therapy in the Treatment of Age-Related Macular Degeneration Terminated NCT00423189 Phase 4
9 A Study of Strontium90 Beta Radiation With Lucentis to Treat Age-Related Macular Degeneration Unknown status NCT00454389 Phase 3
10 Topical Dexamethasone - Cyclodextrin Microparticle Eye Drops for Diabetic Macular Edema Unknown status NCT01523314 Phase 2, Phase 3
11 Bevacizumab Versus Ranibizumab for Diabetic Retinopathy Completed NCT00545870 Phase 3
12 A Study to Compare rhuFab V2 With Verteporfin Photodynamic in Treating Subfoveal Neovascular Macular Degeneration Completed NCT00061594 Phase 3
13 Triamcinolone Acetonide Plus Laser Therapy to Treat Age-Related Macular Degeneration Completed NCT00100009 Phase 3
14 Combined Triple Therapy in Diabetic Retinopathy (DRP) Completed NCT00806169 Phase 3
15 Comparative Effectiveness Study of Intravitreal Aflibercept, Bevacizumab, and Ranibizumab for Diabetic Macular Edema Completed NCT01627249 Phase 3
16 Intravitreal Triamcinolone Acetonide Versus Laser for Diabetic Macular Edema Completed NCT00367133 Phase 3
17 Laser-Ranibizumab-Triamcinolone for Proliferative Diabetic Retinopathy Completed NCT00445003 Phase 3
18 Laser-Ranibizumab-Triamcinolone for Diabetic Macular Edema Completed NCT00444600 Phase 3
19 Long-Term Safety of Lampalizumab Intravitreal (ITV) Injections in Participants With Geographic Atrophy (GA) Secondary to Age-Related Macular Degeneration (OMASPECT) Recruiting NCT02745119 Phase 3
20 A Study Investigating the Safety and Efficacy of Lampalizumab Intravitreal Injections in Patients With Geographic Atrophy Secondary to Age-Related Macular Degeneration (SPECTRI) Recruiting NCT02247531 Phase 3
21 Clinical Study to Evaluate Treatment With ORACEA® for Geographic Atrophy (TOGA) Recruiting NCT01782989 Phase 2, Phase 3
22 Treatment for CI-DME in Eyes With Very Good VA Study Recruiting NCT01909791 Phase 3
23 Anti-VEGF Treatment for Prevention of PDR/DME Recruiting NCT02634333 Phase 3
24 Suprachoroidal Injection of CLS-TA in Subjects With Macular Edema Associated With Non-infectious Uveitis Recruiting NCT02595398 Phase 3
25 Comparison of Age-related Macular Degeneration Treatments Trials: Lucentis-Avastin Trial Active, not recruiting NCT00593450 Phase 3
26 Safety and Efficacy of Abicipar Pegol in Patients With Neovascular Age-related Macular Degeneration Active, not recruiting NCT02462486 Phase 3
27 A Safety and Efficacy Study of Abicipar Pegol in Patients With Neovascular Age-related Macular Degeneration Active, not recruiting NCT02462928 Phase 3
28 Macular Edema Ranibizumab v. Intravitreal Anti-inflammatory Therapy Trial Not yet recruiting NCT02623426 Phase 3
29 Safety and Effectiveness Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD) Using Rheopheresis Suspended NCT00460967 Phase 3
30 Safety & Efficacy Study Evaluating the Combination of Bevasiranib & Lucentis Therapy in Wet AMD Terminated NCT00499590 Phase 3
31 A Randomized, Multi-center, Phase II Study of the Safety, Tolerability and Bioactivity of Repeated Intravitreal Injections of iCo-007 as Monotherapy or in Combination With Ranibizumab or Laser Photocoagulation in the Treatment of Diabetic Macular Edema (t Unknown status NCT01565148 Phase 2
32 Combination Therapy for Age-Related Macular Degeneration. Completed NCT00376701 Phase 2
33 Evaluation of Pain and Inflammation After Injection of Lucentis vs Eylea for Treatment of Wet Macular Degeneration Completed NCT01926977 Phase 1, Phase 2
34 Lucentis to Treat Pigment Epithelial Detachment Completed NCT00841581 Phase 2
35 Safety and Efficacy Study of Small Interfering Ribonucleic Acid (RNA) Molecule (Cand5) to Treat Wet Age-Related Macular Degeneration Completed NCT00259753 Phase 2
36 A Study of an Encapsulated Cell Technology (ECT) Implant for Patients With Atrophic Macular Degeneration Completed NCT00447954 Phase 2
37 Safety and Efficacy of Repeated Intravitreal Administration of Vascular Endothelial Growth Factor (VEGF) Trap in Patients With Wet Age-Related Macular Degeneration (AMD) Completed NCT00320788 Phase 2
38 Ranibizumab in Residual Diabetic Macular Edema Following Previous Anti-VEGF Therapy Completed NCT01472510 Phase 2
39 Study Comparing 0.5mg of Ranibizumab and Higher Doses in the Treatment of Clinically Significant Diabetic Macular Edema Completed NCT00440609 Phase 1, Phase 2
40 Safety and Efficacy Study of Intravitreal Ocriplasmin in Subjects With AMD With Focal Vitreomacular Adhesion Completed NCT00913744 Phase 2
41 NSAID Phase II for Non-central Involved Diabetic Macular Edema (DME) Completed NCT01331005 Phase 2
42 Pegaptanib Sodium Compared to Sham Injection in Patients With Recent Vision Loss Due to Macular Edema Secondary to Central Retinal Vein Occlusion (CRVO) Completed NCT00088283 Phase 2
43 A Phase 2 Evaluation of Anti-VEGF Therapy for Diabetic Macular Edema: Bevacizumab (Avastin) Completed NCT00336323 Phase 2
44 IAI Versus Sham as Prophylaxis Against Conversion to Neovascular AMD Recruiting NCT02462889 Phase 2
45 Study to Evaluate RO6867461 (RG7716) for Extended Durability in the Treatment of Neovascular Age Related Macular Degeneration (nAMD) Recruiting NCT03038880 Phase 2
46 Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease Recruiting NCT02402660 Phase 2
47 Evaluation of Inflammation and Pain Post Injection of Ranibizumab vs. Aflibercept in Patients With Diabetic Macular Edema Recruiting NCT02363621 Phase 2
48 An Extension Study to Evaluate the Long-Term Safety of Lampalizumab in Participants With Geographic Atrophy Recruiting NCT01602120 Phase 2
49 A Study of Lampalizumab Intravitreal Injections Administered Every Two Weeks or Every Four Weeks to Participants With Geographic Atrophy Active, not recruiting NCT02288559 Phase 2
50 Argus® II Retinal Stimulation System Feasibility Protocol Active, not recruiting NCT00407602 Phase 2

Search NIH Clinical Center for Vitreoretinal Degeneration

Genetic Tests for Vitreoretinal Degeneration

Genetic tests related to Vitreoretinal Degeneration:

id Genetic test Affiliating Genes
1 Vitreoretinal Degeneration 29

Anatomical Context for Vitreoretinal Degeneration

Publications for Vitreoretinal Degeneration

Articles related to Vitreoretinal Degeneration:

(show all 32)
id Title Authors Year
1
Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function. ( 23977131 )
2013
2
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. ( 18179896 )
2008
3
Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. ( 15557460 )
2004
4
Snowflake vitreoretinal degeneration: follow-up of the original family. ( 14644728 )
2003
5
Vitreoretinal degeneration complicated by retinal detachment in alport syndrome. ( 12652248 )
2003
6
Goldmann-Favre vitreoretinal degeneration. ( 12747653 )
2003
7
A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. ( 11812423 )
2002
8
A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. ( 12208278 )
2002
9
Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. ( 11450497 )
2001
10
Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14. ( 10333105 )
1999
11
Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: a new syndrome? ( 9747034 )
1998
12
Primary congenital ectropion uveae associated with vitreoretinal degeneration. ( 9438589 )
1998
13
Peripheral neuropathy: an unrecognized feature of hereditary vitreoretinal degeneration? ( 8719653 )
1996
14
Wagner vitreoretinal degeneration. Follow-up of the original pedigree. ( 9098284 )
1995
15
Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. ( 8484411 )
1993
16
Autosomal dominant juvenile vitreoretinal degeneration and retinal detachment. ( 3721711 )
1986
17
Juvenile vitreoretinal degeneration and retinal detachment. ( 3002098 )
1985
18
Prophylactic laser photocoagulation in hereditary snowflake vitreoretinal degeneration. A family report. ( 6626003 )
1983
19
Clinical variability in vitreoretinal degeneration. ( 6873954 )
1983
20
Vitreoretinal degeneration in facial clefting syndrome. ( 7171778 )
1982
21
Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita. ( 6807266 )
1982
22
Wagner's vitreoretinal degeneration with generalized epiphyseal dysplasia. ( 7136558 )
1982
23
Hereditary snowflake vitreoretinal degeneration. ( 7171777 )
1982
24
Chorioretinal dysplasia in young subjects with Wagner's hereditary vitreoretinal degeneration. ( 7228506 )
1981
25
Wagner's vitreoretinal degeneration. ( 7283320 )
1980
26
Hereditary vitreoretinal degeneration, cleft lip and palate, deafness, and skeletal dysplasia. ( 6966133 )
1980
27
Wagner's hereditary vitreoretinal degeneration. ( 7387542 )
1980
28
Vitrectomy and Wagner's vitreoretinal degeneration. ( 434083 )
1979
29
Vitrectomy and Wagner's vitreoretinal degeneration. ( 707593 )
1978
30
Snowflake degeneration in hereditary vitreoretinal degeneration. ( 4812083 )
1974
31
Wagner's hereditary vitreoretinal degeneration and retinal detachment. ( 4691317 )
1973
32
Hereditary vitreoretinal degeneration and night blindness. ( 5305106 )
1969

Variations for Vitreoretinal Degeneration

Expression for Vitreoretinal Degeneration

Search GEO for disease gene expression data for Vitreoretinal Degeneration.

Pathways for Vitreoretinal Degeneration

GO Terms for Vitreoretinal Degeneration

Cellular components related to Vitreoretinal Degeneration according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.87 CD55 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
2 proteinaceous extracellular matrix GO:0005578 9.65 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2
3 extracellular matrix GO:0031012 9.54 COL11A1 COL18A1 COL2A1
4 basement membrane GO:0005604 9.46 COL18A1 COL2A1 COL4A3 P3H2
5 endoplasmic reticulum lumen GO:0005788 9.43 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2 P3H2
6 collagen trimer GO:0005581 9.02 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2

Biological processes related to Vitreoretinal Degeneration according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.69 COL18A1 COL4A3 P3H2
2 visual perception GO:0007601 9.54 COL11A1 COL18A1 COL2A1
3 viral entry into host cell GO:0046718 9.52 CD55 CXADR
4 cartilage development GO:0051216 9.49 COL11A1 COL2A1
5 inner ear morphogenesis GO:0042472 9.48 COL11A1 COL2A1
6 heart morphogenesis GO:0003007 9.46 COL11A1 COL2A1
7 skeletal system morphogenesis GO:0048705 9.43 COL11A1 COL2A1
8 sensory perception of sound GO:0007605 9.43 COL11A1 COL2A1 COL4A3
9 collagen fibril organization GO:0030199 9.4 COL11A1 COL2A1
10 cartilage condensation GO:0001502 9.32 COL11A1 COL2A1
11 collagen catabolic process GO:0030574 9.26 COL11A1 COL18A1 COL2A1 COL4A3
12 proteoglycan metabolic process GO:0006029 9.16 COL11A1 COL2A1
13 extracellular matrix organization GO:0030198 9.02 COL11A1 COL18A1 COL2A1 COL4A3 COL9A2

Molecular functions related to Vitreoretinal Degeneration according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 9.16 CD55 CXADR
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL2A1 COL9A2
3 extracellular matrix structural constituent GO:0005201 8.8 COL11A1 COL2A1 COL4A3

Sources for Vitreoretinal Degeneration

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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