MCID: RTN016
MIFTS: 53

Retinal Degeneration

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinal Degeneration

MalaCards integrated aliases for Retinal Degeneration:

Name: Retinal Degeneration 12 29 52 42 14 69
Degeneration of Retina 12
Retina Degeneration 12

Classifications:



External Ids:

Disease Ontology 12 DOID:8466
MeSH 42 D012162
NCIt 47 C34979
SNOMED-CT 64 95695004
UMLS 69 C0035304

Summaries for Retinal Degeneration

Disease Ontology : 12 A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.

MalaCards based summary : Retinal Degeneration, also known as degeneration of retina, is related to blessig's cysts and macular degeneration, age-related, 1. An important gene associated with Retinal Degeneration is RPE65 (RPE65, Retinoid Isomerohydrolase), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. The drugs Dorzolamide and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related phenotypes are nervous system and pigmentation

Related Diseases for Retinal Degeneration

Diseases in the Retinal Degeneration family:

Retinal Degeneration, Late-Onset, Autosomal Dominant

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

(show top 50) (show all 177)
id Related Disease Score Top Affiliating Genes
1 blessig's cysts 32.2 CLN3 PRPH2 RPGR
2 macular degeneration, age-related, 1 31.5 ABCA4 CRB1 MFRP NRL PDE6B PRPH2
3 infantile cerebellar-retinal degeneration 12.3
4 retinal degeneration, late-onset, autosomal dominant 12.2
5 peripheral retinal degeneration 12.1
6 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.1
7 doyne honeycomb degeneration of retina 12.1
8 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 12.0
9 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration 11.9
10 cobblestone retinal degeneration 11.8
11 senile reticular retinal degeneration 11.8
12 cystoid macular retinal degeneration 11.8
13 retinitis pigmentosa 27 11.6
14 spinocerebellar ataxia 7 11.5
15 spastic paraplegia 15, autosomal recessive 11.5
16 oliver-mcfarlane syndrome 11.5
17 retinitis pigmentosa 11.2
18 enhanced s-cone syndrome 11.1
19 spastic paraplegia 15 11.0
20 cerebellar ataxia 11.0
21 goldmann-favre syndrome 11.0
22 cone-rod dystrophy 11.0
23 retinitis 11.0
24 hypobetalipoproteinemia 11.0
25 choroideremia 11.0
26 autoimmune retinopathy 11.0
27 retinitis pigmentosa 41 10.9
28 degeneration of macula and posterior pole 10.9
29 neurodegeneration with brain iron accumulation 10.9
30 gosr2-related progressive myoclonus ataxia 10.9 NR2E3 NRL
31 ventilation pneumonitis 10.9 ATXN7 RHO
32 atrial septal defect coronary sinus 10.8 ACO2 CP
33 abetalipoproteinemia 10.8
34 leber congenital amaurosis 12 10.8 RD3 RPE65
35 kuhnt-junius degeneration 10.8
36 pseudoretinitis pigmentosa 10.8
37 actin-accumulation myopathy 10.7 ABCA4 PRPH2 RHO
38 achromatopsia 2 10.7 MFRP PITPNM1
39 macular dystrophy, patterned, 1 10.7 PRPH2 RHO
40 collagen vi-related myopathy 10.7 PDE6B RHO
41 ciliary dyskinesia, primary, 9, with or without situs inversus 10.7 ABCA4 CRB1 PRPH2
42 retinitis pigmentosa 37 10.7 MFRP NR2E3 NRL
43 autosomal recessive cerebral atrophy 10.7 ABCA4 RPE65
44 pigmented paravenous chorioretinal atrophy 10.6
45 retinitis pigmentosa 67 10.6
46 bardet-biedl syndrome 16 10.6
47 bietti crystalline corneoretinal dystrophy 10.6
48 retinitis pigmentosa with or without skeletal anomalies 10.6
49 spinocerebellar ataxia 1 10.6
50 joubert syndrome 21 10.6

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



Diseases related to Retinal Degeneration

Symptoms & Phenotypes for Retinal Degeneration

MGI Mouse Phenotypes related to Retinal Degeneration:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 RPGR TULP1 ABCA4 ATXN7 C1QTNF5 CLN3
2 pigmentation MP:0001186 9.73 ABCA4 C1QTNF5 CP CRB1 MFRP NRL
3 vision/eye MP:0005391 9.58 RPE65 RPGR TULP1 ABCA4 ATXN7 C1QTNF5

Drugs & Therapeutics for Retinal Degeneration

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

(show top 50) (show all 418)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 3154 5284549
2
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 347396-82-1 459903
3
Verteporfin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 129497-78-5
4
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
5
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 124-94-7 31307
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-02-2 5743
7
Ephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 299-42-3 9294
8
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
9
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
10
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
11
Norgestimate Approved Phase 4 35189-28-7 6540478
12
Pseudoephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 90-82-4 7028
13
Temazepam Approved Phase 4,Phase 3 846-50-4 5391
14
Lidocaine Approved, Vet_approved Phase 4,Phase 2 137-58-6 3676
15 Povidone-iodine Approved Phase 4,Phase 3,Phase 2,Phase 1 25655-41-8
16
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 67-73-2 6215
17
Nepafenac Approved Phase 4,Phase 3,Phase 2 78281-72-8 151075
18
Diclofenac Approved, Vet_approved Phase 4,Phase 1 15307-86-5 3033
19
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
20
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
21
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
22
Menthol Approved Phase 4 2216-51-5 16666
23
Ketorolac Approved Phase 4,Phase 2,Phase 3 74103-06-3, 66635-83-4 3826
24
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
25
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
26
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
27
Bimatoprost Approved, Investigational Phase 4,Phase 2 155206-00-1 5311027
28
Latanoprost Approved, Investigational Phase 4,Phase 2 130209-82-4 5282380 5311221
29
Timolol Approved Phase 4,Phase 2,Phase 3 26839-75-8 33624 5478
30
Travoprost Approved Phase 4 157283-68-6 5282226
31
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
32
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3 378-44-9 9782
33 Homatropine Approved Phase 4 87-00-3
34
Copper Approved Phase 4 7440-50-8 27099
35
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
36
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
37
Difluprednate Approved Phase 4 23674-86-4 443936
38
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
39
Methotrexate Approved Phase 4,Phase 3,Phase 1,Phase 2 1959-05-2, 59-05-2 126941
40
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
41
Rasagiline Approved Phase 4 136236-51-6 3052776
42
Empagliflozin Approved Phase 4 864070-44-0
43
Glimepiride Approved Phase 4 93479-97-1 3476
44
Theobromine Approved Phase 4 83-67-0 5429
45 Tocopherol Approved, Nutraceutical Phase 4,Phase 3,Phase 1
46
Vitamin C Approved, Nutraceutical Phase 4,Phase 3 50-81-7 5785 54670067
47
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1 59-02-9 14985
48
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 59-30-3 6037
49
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 11103-57-4, 68-26-8 445354
50 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 1518)

id Name Status NCT ID Phase Drugs
1 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
2 Treat and Extend Therapy Study Using Intravitreal Aflibercept for Patients Exited From Protocol VGFT-OD 0910 Unknown status NCT01961414 Phase 4 Aflibercept
3 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab;Ranibizumab;Ranibizumab
4 Study to Evaluate Efficacy of Aflibercept in Neovascular Age-related Macular Degeneration Patients Non Responders to Anti-Vascular Endothelial Growth Factor Unknown status NCT01896284 Phase 4 0.5mg aflibercept
5 A Clinical Trial to Explore the Safety and Efficacy of Injections of Macugen When Given Every 6 Weeks in Subjects With AMD Unknown status NCT00354445 Phase 4 pegaptanib sodium (Macugen)
6 On-label tReatment With Intravitreal Aflibercept injectiOn for Patients With Persistent Pigment epitheliaL Detachments in Neovascular Age Related Macular Degeneration (AMD) Unknown status NCT01670162 Phase 4 Aflibercept
7 Aflibercept (EYLEA)as Secondary or Third Line Treatment for Neovascular Age-related Macular Degeneration. Unknown status NCT01918878 Phase 4 Aflibercept (EYLEA)
8 The Endurance 1 Trial Unknown status NCT02297204 Phase 4 aflibercept 2.0 mg
9 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4 bevacizumab;bevacizumab
10 Multicenter Study to Evaluate the Efficacy of Treat and Extend Regimen of Aflibercept (EYLEA) as a Second Line Treatment for Diabetic Macular Edema Unknown status NCT02633852 Phase 4 Aflibercept
11 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4 bevacizumab (Sub-tenon´s injection)
12 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
13 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
14 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
15 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Unknown status NCT02055911 Phase 4 Ranibizumab
16 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4 bevacizumab and triamcinolone
17 Effect of Dexamethasone Implant in Hard Exudate Complicated With Diabetic Macular Edema Unknown status NCT02399657 Phase 4 Intravitreal dexamethasone 0.7mg implant
18 Dosage Study for Vigamox Eye Drops Prior to Intravitreal Injections Unknown status NCT00690313 Phase 4 Vigamox
19 Pain Perception at Laser Treatment Completed NCT01033968 Phase 4
20 Ophthalmologic Safety of Long Term Treatment With Pramipexole Compared to Bromocriptine or Other Dopamine Agonists in Patients With Parkinson's Disease Completed NCT02233023 Phase 4 Pramipexole;Bromocriptine and other dopamine agonists
21 Changes of Macular Pigment and Parameters of Eyes After YAG Laser Treatment in Cases With Capsule Opacification Completed NCT03321253 Phase 4
22 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4 aflibercept 2.0 mg
23 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
24 FUSION Regimen: Combined Pro re Nata and Fixed Regimen Ranibizumab in Exudative Age-related Macular Degeneration Completed NCT01500915 Phase 4 Ranibizumab
25 Safety and Efficacy of Switching From Aflibercept to Ranibizumab in Patients With nAMD Completed NCT02161575 Phase 4 Ranibizumab
26 Impact of Home Monitoring to Decrease the Treatment Burden for Neovascular Age-related Macular Degeneration (AMD) Completed NCT01863199 Phase 4 Lucentis (Treat and extend);Lucentis every 4 weeks;Lucentis every 12 weeks
27 Combination Lucentis and Ocular Photodynamic Therapy With Visudyne, With Evaluation-based Retreatment Completed NCT00680498 Phase 4 Ranibizumab;Ranibizumab plus Photodynamic therapy
28 Intravitreal Aflibercept in Neovascular AMD With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
29 A 16 Week Evaluation of the Novartis Health Management Tool (HMT) in Age Related Macular Degeneration (AMD) Completed NCT01542866 Phase 4
30 Plasma Levels of Vascular Endothelial Growth Factor Before and After Intravitreal Injection of Aflibercept Completed NCT02125864 Phase 4 Aflibercept
31 UNcovering the Difference Between Ranibizumab and Aflibercept, Focusing on Systemic Anti-vascular Endothelial Growth Factor (VEGF) Effects in Patients With neovascuLar Age-related Macular Degeneration (AMD) Completed NCT01988662 Phase 4
32 Study EvAluating Genotypes While Using Lucentis 2 Completed NCT01464723 Phase 4 Ranibizumab
33 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4 Eylea
34 PDT Study for Exudative AMD With PCV Completed NCT00331435 Phase 4
35 Safety and Tolerability of Ranibizumab in Mono/Bilateral w-AMD Patients in Eyes With BCVA<2/10 and/or 2nd Affected Eye Completed NCT01986907 Phase 4 ranibizumab
36 VEGF-antagonism and Endothelial Function in Age-related Macular Degeneration (AMD) Completed NCT00727753 Phase 4 Ranibizumab;Bevacizumab
37 A Long-Term Monitoring Study of the IMT-002 Patients Completed NCT00976235 Phase 4
38 Dry Age-Related Macular Degeneration (AMD) Treatment With Rheopheresis Trial Completed NCT00751361 Phase 4
39 Evaluation Of Safety And Efficacy Of 0.3 Mg/Eye Macugen In Patients With Small Age-Related Macular Degeneration Lesions Completed NCT00324116 Phase 4 pegaptanib sodium (Macugen)
40 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4 Aflibercept
41 Pilot Study of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4 Ketorolac + Ranibizumab;Ranibizumab
42 Study to Assess Best Corrected Visual Acuity (BCVA) in Patients With Neovascular Age-Related Macular Degeneration (AMD) Who Are Administered VEGF Trap-Eye (Intravitreal Aflibercept Injection) Completed NCT01722045 Phase 4 Intravitreal Aflibercept Injection (IAI)
43 Combined Therapy in Age-Related Macular Degeneration (ARMD) Completed NCT00805649 Phase 4 dexamethasone;bevacizumab;triamcincolone
44 LUCAS (Lucentis Compared to Avastin Study) Completed NCT01127360 Phase 4 Bevacizumab;Ranibizumab
45 Efficacy and Safety of Ranibizumab 0.5 mg Administered as Two Alternative Dosing Regimens in Chinese Patients With nAMD (Age Related Macular Degeneration) Completed NCT01775124 Phase 4 Ranibizumab
46 Head to Head Study of Anti-VEGF Treatment. Completed NCT02577107 Phase 4 ranibizumab;Conbercept
47 Efficacy of Ranibizumab Therapy With Aflibercept in Patients With Diabetic Macular Edema Completed NCT02646670 Phase 4 Ranibizumab;Aflibercept;Ranibizumab and Aflibercept;Aflibercept and ranibizumab
48 Comparison of Treatment Regimens Using Ranibizumab: Intensive (Resolution of Intra- and Sub-retinal Fluid) vs Relaxed (Resolution of Primarily Intra-retinal Fluid) Treatment. Completed NCT01972789 Phase 4 Ranibizumab
49 Extension Study to Compare Long-term Efficacy and Safety of Ranibizumab Intravitreal Injections Versus Dexamethasone Intravitreal Implant in Patients With RVO Completed NCT01580020 Phase 4 Dexamethasone
50 Ranibizumab Plus Indomethacin Completed NCT03261635 Phase 4 Ranibizumab Injection;Indomethacin

Search NIH Clinical Center for Retinal Degeneration

Cochrane evidence based reviews: retinal degeneration

Genetic Tests for Retinal Degeneration

Genetic tests related to Retinal Degeneration:

id Genetic test Affiliating Genes
1 Retinal Degeneration 29

Anatomical Context for Retinal Degeneration

MalaCards organs/tissues related to Retinal Degeneration:

39
Eye, Endothelial, Retina, Bone, Testes, Bone Marrow, Brain

Publications for Retinal Degeneration

Articles related to Retinal Degeneration:

(show top 50) (show all 828)
id Title Authors Year
1
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration. ( 28939808 )
2017
2
Cofactors associated with Sudden Acquired Retinal Degeneration Syndrome: 151 dogs within a reference population. ( 28845542 )
2017
3
A novel RIPK1 inhibitor that prevents retinal degeneration in a rat glaucoma model. ( 28803066 )
2017
4
Protective effect of sulforaphane against retinal degeneration in the Pde6(rd10) mouse model of retinitis pigmentosa. ( 28937835 )
2017
5
Lipid radicals cause light-induced retinal degeneration. ( 28930310 )
2017
6
Nestin Expression in the Adult Mouse Retina with Pharmaceutically Induced Retinal Degeneration. ( 28049248 )
2017
7
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. ( 28144890 )
2017
8
Intraperitoneal administration of adipose tissue-derived stem cells for the rescue of retinal degeneration in a mouse model via indigenous CNTF up-regulation by IL-6. ( 28715614 )
2017
9
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent. ( 28945494 )
2017
10
The Comparative Efficiency of Intraperitoneal and Intravitreous Injection of Hydrogen Rich Saline against N-Methyl-N-Nitrosourea Induced Retinal Degeneration: A Topographic Study. ( 28900397 )
2017
11
Retinal degeneration in progressive supranuclear palsy measured by optical coherence tomography and scanning laser polarimetry. ( 28706282 )
2017
12
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration. ( 28542676 )
2017
13
Glucocorticoid-Induced Leucine Zipper Protects the Retina From Light-Induced Retinal Degeneration by Inducing Bcl-xL in Rats. ( 28728173 )
2017
14
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. ( 28132693 )
2017
15
Restoring vision in mice with retinal degeneration using multicharacteristic opsin. ( 28948190 )
2017
16
IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. ( 28460050 )
2017
17
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease. ( 28355279 )
2017
18
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. ( 28285769 )
2017
19
Cataract surgery in patients with late-onset retinal degeneration. ( 28917403 )
2017
20
Restoring vision in mice with retinal degeneration using multicharacteristic opsin. ( 28840163 )
2017
21
iPSC-Derived Retina Transplants Improve Vision in rd1 End-Stage Retinal-Degeneration Mice. ( 28076757 )
2017
22
Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature. ( 28885867 )
2017
23
Necroptosis in microglia contributes to neuroinflammation and retinal degeneration through TLR4 activation. ( 28885615 )
2017
24
Transgenic Mice Over-Expressing RBP4 Have RBP4-Dependent and Light-Independent Retinal Degeneration. ( 28813718 )
2017
25
Primary visual cortical remapping in patients with inherited peripheral retinal degeneration. ( 28116235 )
2017
26
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. ( 28054582 )
2017
27
Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration. ( 28410364 )
2017
28
Photobiomodulation with 670A nm light ameliorates MA1ller cell-mediated activation of microglia and macrophages in retinal degeneration. ( 28888911 )
2017
29
Microglia Polarization with M1/M2 Phenotype Changes in rd1 Mouse Model of Retinal Degeneration. ( 28928639 )
2017
30
Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. ( 28837078 )
2017
31
Permissive role for mGlu1 metabotropic glutamate receptors in excitotoxic retinal degeneration. ( 28918254 )
2017
32
Exercise and Cyclic Light Preconditioning Protect Against Light-Induced Retinal Degeneration and Evoke Similar Gene Expression Patterns. ( 26427444 )
2016
33
PINK1 and Parkin cooperatively protect neurons against constitutively active TRP channel-induced retinal degeneration in Drosophila. ( 27054334 )
2016
34
Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration. ( 27841758 )
2016
35
Emerging therapies for inherited retinal degeneration. ( 27928030 )
2016
36
Cyanidin-3-glucoside and its phenolic acid metabolites attenuate visible light-induced retinal degeneration in vivo via activation of Nrf2/HO-1 pathway and NF-I_B suppression. ( 26991594 )
2016
37
Corrigendum: The bacterial toxin CNF1 as a tool to induce retinal degeneration reminiscent of retinitis pigmentosa. ( 27934895 )
2016
38
Correction: A Naturally-Derived Compound Schisandrin B Enhanced Light Sensation in the pde6c Zebrafish Model of Retinal Degeneration. ( 27111849 )
2016
39
The Protective Role of PAC1-Receptor Agonist Maxadilan in BCCAO-Induced Retinal Degeneration. ( 27566170 )
2016
40
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. ( 27798110 )
2016
41
FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. ( 26427412 )
2016
42
Contribution of Borneolum syntheticum to the intervention effect of Liuwei Dihuang Pill () on experimental retinal degeneration. ( 27170349 )
2016
43
Neural stem cells transplanted to the subretinal space of rd1 mice delay retinal degeneration by suppressing microglia activation. ( 27067610 )
2016
44
N-methyl-N-nitrosourea induces retinal degeneration in the rat via the inhibition of NF-I_B activation. ( 27862073 )
2016
45
Fundus Camera-Delivered Light-Induced Retinal Degeneration in Mice With the RPE65 Leu450Met Variant is Associated With Oxidative Stress and Apoptosis. ( 27768794 )
2016
46
Progesterone Attenuates Microglial-Driven Retinal Degeneration and Stimulates Protective Fractalkine-CX3CR1 Signaling. ( 27814376 )
2016
47
Persistent inflammatory state after photoreceptor loss in an animal model of retinal degeneration. ( 27624537 )
2016
48
Gene expression changes in the retina following subretinal injection of human neural progenitor cells into a rodent model for retinal degeneration. ( 27217715 )
2016
49
Digoxin Inhibits Induction of Experimental Autoimmune Uveitis in Mice, but Causes Severe Retinal Degeneration. ( 27028065 )
2016
50
Neuroprotection, Growth Factors and BDNF-TrkB Signalling in Retinal Degeneration. ( 27657046 )
2016

Variations for Retinal Degeneration

ClinVar genetic disease variations for Retinal Degeneration:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPE65 NM_000329.2(RPE65): c.1338+1G> A single nucleotide variant Pathogenic rs1057518922 GRCh37 Chromosome 1, 68896964: 68896964

Copy number variations for Retinal Degeneration from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 66270 12 27288374 27369795 Insertion STK38L retinal degeneration

Expression for Retinal Degeneration

Search GEO for disease gene expression data for Retinal Degeneration.

Pathways for Retinal Degeneration

GO Terms for Retinal Degeneration

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

id Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 9.13 ABCA4 PDE6B RHO
2 photoreceptor outer segment GO:0001750 9.02 ABCA4 PRPH2 RHO RPGR TULP1

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.81 ABCA4 NR2E3 NRL PDE6B RD3 RHO
2 retinoid metabolic process GO:0001523 9.69 ABCA4 RHO RPE65
3 photoreceptor cell maintenance GO:0045494 9.67 ABCA4 RHO TULP1
4 phototransduction GO:0007602 9.63 NR2E3 PITPNM1 RHO
5 eye photoreceptor cell development GO:0042462 9.56 CRB1 MFRP NR2E3 TULP1
6 retina development in camera-type eye GO:0060041 9.56 MFRP NR2E3 PDE6B PRPH2 RD3 RHO
7 response to light stimulus GO:0009416 9.55 RHO RPE65
8 detection of light stimulus involved in visual perception GO:0050908 9.54 RPE65 TULP1
9 regulation of rhodopsin mediated signaling pathway GO:0022400 9.54 PDE6B PPEF1 RHO
10 rhodopsin mediated signaling pathway GO:0016056 9.52 PDE6B RHO
11 phototransduction, visible light GO:0007603 9.5 ABCA4 PDE6B RHO
12 detection of light stimulus GO:0009583 9.48 PDE6B RHO
13 regulation of rhodopsin gene expression GO:0007468 9.43 NRL RPE65
14 positive regulation of rhodopsin gene expression GO:0045872 9.4 NR2E3 NRL
15 visual perception GO:0007601 9.4 ABCA4 ATXN7 MFRP NR2E3 NRL PDE6B

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

id Name GO ID Score Top Affiliating Genes
1 phosphatidylcholine binding GO:0031210 8.96 PITPNM1 RPE65
2 phosphatidylinositol transporter activity GO:0008526 8.62 PITPNM1 PITPNM2

Sources for Retinal 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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