MCID: RTN016
MIFTS: 56

Retinal Degeneration

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinal Degeneration

MalaCards integrated aliases for Retinal Degeneration:

Name: Retinal Degeneration 12 77 30 56 6 45 15 41 74
Degeneration of Retina 12
Retina Degeneration 12

Classifications:



External Ids:

Disease Ontology 12 DOID:8466
MeSH 45 D012162
NCIt 51 C34979
SNOMED-CT 69 95695004
UMLS 74 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 peripheral retinal degeneration and macular degeneration, age-related, 1. An important gene associated with Retinal Degeneration is RPE65 (Retinoid Isomerohydrolase RPE65), 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, retina and endothelial, and related phenotypes are nervous system and pigmentation

Wikipedia : 77 Retinopathy is any damage to the retina of the eyes, which may cause vision impairment. Retinopathy... more...

Related Diseases for Retinal Degeneration

Diseases in the Retinal Degeneration family:

Late-Onset Retinal Degeneration

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

(show top 50) (show all 298)
# Related Disease Score Top Affiliating Genes
1 peripheral retinal degeneration 34.2 PRPH2 RPGR
2 macular degeneration, age-related, 1 33.1 ABCA4 CRB1 PRPH2 RHO RPE65
3 goldmann-favre syndrome 32.7 NR2E3 NRL
4 degeneration of macula and posterior pole 32.3 ABCA4 RHO RPE65
5 cone-rod dystrophy 2 31.9 ABCA4 NR2E3 PRPH2 RHO RPE65 RPGR
6 retinitis 31.4 PRPH2 RHO RPGR
7 retinitis pigmentosa 31.4 ABCA4 CRB1 MFRP MYO7A NR2E3 NRL
8 leber congenital amaurosis 9 30.3 CRB1 RPE65 TULP1
9 night blindness 30.3 PDE6B RHO RPE65
10 leber congenital amaurosis 12 30.2 RD3 RPE65
11 yemenite deaf-blind hypopigmentation syndrome 30.2 ABCA4 CRB1 MYO7A RHO RPE65 RPGR
12 fundus albipunctatus 30.1 MFRP PDE6B PRPH2 RHO RPE65
13 nephronophthisis 3 30.1 ACO2 NRL
14 stargardt disease 30.0 ABCA4 CRB1 MYO7A PRPH2 RHO RPE65
15 cancer-associated retinopathy 29.9 RHO TULP1
16 leber congenital amaurosis 29.4 ABCA4 CRB1 MFRP MYO7A NR2E3 NRL
17 retinal disease 29.3 ABCA4 CRB1 MYO7A NRL PDE6B PRPH2
18 fundus dystrophy 28.8 ABCA4 C1QTNF5 CRB1 MFRP MYO7A NR2E3
19 late-onset retinal degeneration 12.7
20 infantile cerebellar-retinal degeneration 12.7
21 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.5
22 lattice degeneration of retina leading to retinal detachment 12.3
23 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration 12.2
24 cobblestone retinal degeneration 12.2
25 senile reticular retinal degeneration 12.1
26 cystoid macular retinal degeneration 12.1
27 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies 12.1
28 retinal degeneration and epilepsy 12.1
29 retinitis pigmentosa 27 12.1
30 spastic paraplegia 15, autosomal recessive 12.0
31 spinocerebellar ataxia 7 12.0
32 oliver-mcfarlane syndrome 11.8
33 spastic paraplegia 15 11.8
34 retinitis pigmentosa 41 11.6
35 doyne honeycomb retinal dystrophy 11.6
36 blessig's cysts 11.5
37 enhanced s-cone syndrome 11.4
38 leber congenital amaurosis 4 11.4
39 kearns-sayre syndrome 11.4
40 aceruloplasminemia 11.3
41 bardet-biedl syndrome 2 11.3
42 choroideremia 11.3
43 vitreoretinopathy, neovascular inflammatory 11.3
44 retinitis pigmentosa with or without skeletal anomalies 11.3
45 hypobetalipoproteinemia, familial, 1 11.3
46 autoimmune retinopathy 11.3
47 pseudoretinitis pigmentosa 11.2
48 retinal lattice degeneration 11.2
49 neurodegeneration with brain iron accumulation 11.2
50 abetalipoproteinemia 11.1

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 ABCA4 ATXN7 C1QTNF5 CP CRB1 MFRP
2 pigmentation MP:0001186 9.77 ABCA4 C1QTNF5 CP CRB1 MFRP MYO7A
3 vision/eye MP:0005391 9.55 ABCA4 ATXN7 C1QTNF5 CP CRB1 MFRP

Drugs & Therapeutics for Retinal Degeneration

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

(show top 50) (show all 458)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 5284549 3154
2
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 347396-82-1 459903
3
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 216974-75-3
4
Verteporfin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 129497-78-5
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
7
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 124-94-7 31307
8
Povidone-iodine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 25655-41-8
9
Povidone Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 9003-39-8
10
Iodine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 7553-56-2 807
11
Temazepam Approved, Investigational Phase 4,Phase 3,Not Applicable 846-50-4 5391
12
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 67-73-2 6215
13
Nepafenac Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 78281-72-8 151075
14
Diclofenac Approved, Vet_approved Phase 4,Phase 1,Not Applicable 15307-86-5 3033
15
Timolol Approved Phase 4,Phase 2,Phase 3,Not Applicable 26839-75-8 5478 33624
16
Tocopherol Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 1406-66-2 14986
17
Dopamine Approved Phase 4,Phase 2,Phase 1,Not Applicable 62-31-7, 51-61-6 681
18
Pramipexole Approved, Investigational Phase 4 104632-26-0 119570 59868
19
Bromocriptine Approved, Investigational Phase 4,Phase 1,Phase 2 25614-03-3 31101
20
Ketorolac Approved Phase 4,Phase 2,Phase 3,Not Applicable 74103-06-3, 66635-83-4 3826
21
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
22
tannic acid Approved Phase 4,Phase 2,Phase 3,Phase 1 1401-55-4
23
Benzocaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
24
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Not Applicable 137-58-6 3676
25
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 302-25-0
26
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-24-8 5755
27
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 83-43-2 6741
28
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2,Phase 3,Phase 1 2921-57-5
29
Bimatoprost Approved, Investigational Phase 4,Phase 2 155206-00-1 5311027
30
Travoprost Approved Phase 4 157283-68-6 5282226
31
Latanoprost Approved, Investigational Phase 4,Phase 2 130209-82-4 5311221 5282380
32
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3 378-44-9 9782
33
Homatropine Approved Phase 4 87-00-3
34
Moxifloxacin Approved, Investigational Phase 4,Not Applicable 354812-41-2, 151096-09-2 152946
35
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
36
Dipivefrin Approved Phase 4,Not Applicable 52365-63-6 3105
37
Zinc Approved, Investigational Phase 4,Phase 3,Not Applicable 7440-66-6 32051
38
leucovorin Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 58-05-9 143 6006
39
Methotrexate Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
40
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 1 53-03-2 5865
41
Fluprednisolone Approved Phase 4 53-34-9
42
Difluprednate Approved Phase 4 23674-86-4 443936
43
Rasagiline Approved Phase 4 136236-51-6 3052776
44
Empagliflozin Approved Phase 4 864070-44-0
45
Glimepiride Approved Phase 4 93479-97-1 3476
46
Lutein Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 127-40-2 6433159
47
Vitamin C Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 50-81-7 54670067 5785
48
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable 59-02-9 14985
49
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 59-30-3 6037
50
Histidine Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 71-00-1 6274

Interventional clinical trials:

(show top 50) (show all 1712)
# Name Status NCT ID Phase Drugs
1 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
2 EAGLE: Evaluating Genotypes Using Intravitreal Aflibercept Injection Unknown status NCT02689518 Phase 4 Intravitreal aflibercept injection
3 Comparison of PDT Combination With Ranibizumab vs. Ranibizumab Monotherapy in Persistent PCV With Initial Loading Dose Unknown status NCT02864472 Phase 4 Ranibizumab;ranibizumab PRN
4 Safety and Efficacy of Two Regimens of Ranibizumab 0.5 mg in Chinese Patients With Neovascular AMD Unknown status NCT02810808 Phase 4 Ranibizumab
5 A Study Comparing Efficacy and Safety of "Treat-and-Extend" Regimen Versus PRN of Conbercept in AMD Unknown status NCT02802657 Phase 4 Conbercept
6 Treat and Extend Therapy Study Using Intravitreal Aflibercept for Patients Exited From Protocol VGFT-OD 0910 Unknown status NCT01961414 Phase 4 Aflibercept
7 Treatment of AMD With Rheohemapheresis /RHF/ Unknown status NCT01943396 Phase 4
8 Aflibercept (EYLEA)as Secondary or Third Line Treatment for Neovascular Age-related Macular Degeneration. Unknown status NCT01918878 Phase 4 Aflibercept (EYLEA)
9 Genetics in Non-response to Anti-VEGF Treatment in Exudative AMD Unknown status NCT01213667 Phase 4 Ranibizumab
10 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab;Ranibizumab;Ranibizumab
11 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)
12 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
13 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4 bevacizumab;bevacizumab
14 Analysis of Cytokines in Response to Treatment of Diabetic Macular Edema With 0.3mg Lucentis Unknown status NCT03097068 Phase 4 Lucentis
15 Effect of Aflibercept (Eylea®) in the Management of Bevacizumab (Avastin®) Resistant Diabetic Macular Edema Unknown status NCT02924987 Phase 4 Aflibercept Injection
16 Predictors of Treatment Response to Aflibercept and Aqueous Cytokine Levels in Patients With Persistent Diabetic Macular Edema Following Treatment With Ranibizumab: An Interventional Prospective Study Unknown status NCT02651168 Phase 4
17 To Compare Anti-VEGF Monotherapy With Anti-VEGF and EPM Grid Laser Combination Therapy for Diabetic Macular Edema Unknown status NCT02462304 Phase 4 ranibizumab;Bevacizumab
18 Combination of Standard Lucentis Therapy With Micropulse Diode Laser for the Treatment of Diabetic Macular Edema Unknown status NCT02059772 Phase 4 ranibizumab
19 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4 bevacizumab (Sub-tenon´s injection)
20 Effects of Ranibizumab to Delay or Regression Non-proliferative Diabetic Retinopathy(NPDR) With DME Assessed by Microaneurysm Changes: A Pilot Study Unknown status NCT02834663 Phase 4 Lucentis
21 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
22 Evaluation of the "Treat-and-extend" Scheme in Patients With Retinal Vein Occlusion (RVO) With and Without LASER Treatment of Ischaemic Retinal Areas Unknown status NCT02522897 Phase 4 Ranibizumab
23 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
24 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Occlusion Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
25 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
26 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4 bevacizumab and triamcinolone
27 Effect of Dexamethasone Implant in Hard Exudate Complicated With Diabetic Macular Edema Unknown status NCT02399657 Phase 4 Intravitreal dexamethasone 0.7mg implant
28 Pain Perception at Laser Treatment Completed NCT01033968 Phase 4
29 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
30 Changes of Macular Pigment and Parameters of Eyes After YAG Laser Treatment in Cases With Capsule Opacification Completed NCT03321253 Phase 4
31 Effect Aflibercept on Ocular Perfusion Completed NCT03804099 Phase 4 Aflibercept Injection [Eylea]
32 Single or Combined Protocols for NV-AMD Completed NCT03552770 Phase 4 Bevacizumab
33 Efficacy of Fixed Monthly Dosing of Ranibizumab in Neovascular Age-related Macular Degeneration Completed NCT02944227 Phase 4 Lucentis
34 Functional and Structural Outcomes in Neovascular Age-related Macular Degeneration Completed NCT02843490 Phase 4 Ranibizumab
35 Managing Neovascular (Known as "Wet") Age-related Macular Degeneration Over 2 Years Using Different Treatment Schedules of 2 mg Intravitreal Aflibercept Injected in the Eye Completed NCT02581891 Phase 4 Eylea (Intravitreal Aflibercept, VEGF Trap-Eye, BAY86-5321);Eylea (Intravitreal Aflibercept, VEGF Trap-Eye, BAY86-5321)
36 Head to Head Study of Anti-VEGF Treatment. Completed NCT02577107 Phase 4 ranibizumab;Conbercept
37 VITAL - Individualising Therapy for Neovascular AMD With Aflibercept Completed NCT02441816 Phase 4 Aflibercept
38 Intravitreal Aflibercept in Neovascular AMD With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
39 Japanese Treat and Extend Study of Aflibercept in Neovascular Age-related Macular Degeneration Completed NCT02305238 Phase 4 Aflibercept (Eylea, VEGF Trap-Eye, BAY86-5321)
40 Systemic Vascular Endothelial Growth Factor (VEGF) Protein Dynamics Following Intravitreal Injections of Ranibizumab Versus Aflibercept in Patients With Neovascular Age-related Macular Degeneration Completed NCT02257632 Phase 4 Ranibizumab 0.5 mg;Aflibercept 2 mg
41 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
42 Safety and Efficacy of Switching From Aflibercept to Ranibizumab in Patients With nAMD Completed NCT02161575 Phase 4 Ranibizumab
43 Plasma Levels of Vascular Endothelial Growth Factor Before and After Intravitreal Injection of Aflibercept Completed NCT02125864 Phase 4 Aflibercept
44 Pilot Study of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4 Ketorolac + Ranibizumab;Ranibizumab
45 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
46 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
47 Efficacy of Ranibizumab Prn Treatment Compared to Aflibercept Bimonthly Intravitreal Injections on Retinal Thickness Stability in Patients With Wet AMD Completed NCT01958918 Phase 4 Ranibizumab;Aflibercept
48 Study to Evaluate Efficacy of Aflibercept in Neovascular Age-related Macular Degeneration Patients Non Responders to Anti-Vascular Endothelial Growth Factor Completed NCT01896284 Phase 4 0.5mg aflibercept
49 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
50 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4 Aflibercept

Search NIH Clinical Center for Retinal Degeneration

Cochrane evidence based reviews: retinal degeneration

Genetic Tests for Retinal Degeneration

Genetic tests related to Retinal Degeneration:

# Genetic test Affiliating Genes
1 Retinal Degeneration 30

Anatomical Context for Retinal Degeneration

MalaCards organs/tissues related to Retinal Degeneration:

42
Eye, Retina, Endothelial, Bone, Testes, Brain, Bone Marrow

Publications for Retinal Degeneration

Articles related to Retinal Degeneration:

(show top 50) (show all 1798)
# Title Authors Year
1
Multimodal imaging of late-onset retinal degeneration complicated by bilateral choroidal neovascularization. ( 30692649 )
2019
2
Oxidative Stress in Retinal Degeneration Promoted by Constant LED Light. ( 31105526 )
2019
3
Loss of PGC-1α in RPE induces mesenchymal transition and promotes retinal degeneration. ( 31101737 )
2019
4
A lasered mouse model of retinal degeneration displays progressive outer retinal pathology providing insights into early geographic atrophy. ( 31097765 )
2019
5
The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified. ( 31087526 )
2019
6
Rescue of Retinal Degeneration in rd1 Mice by Intravitreally Injected Metformin. ( 31080404 )
2019
7
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. ( 31048900 )
2019
8
Cellular Signaling in Müller Glia: Progenitor Cells for Regenerative and Neuroprotective Responses in Pharmacological Models of Retinal Degeneration. ( 31016037 )
2019
9
Intra-Vitreal Administration of Microvesicles Derived from Human Adipose-Derived Multipotent Stromal Cells Improves Retinal Functionality in Dogs with Retinal Degeneration. ( 31013950 )
2019
10
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration. ( 30979730 )
2019
11
Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish. ( 30970040 )
2019
12
Disruption of the polyubiquitin gene Ubb causes retinal degeneration in mice. ( 30935687 )
2019
13
Suppression of Light-Induced Retinal Degeneration by Quercetin via the AP-1 Pathway in Rats. ( 30934771 )
2019
14
Low-Intensity Exercise in Mice Is Sufficient to Protect Retinal Function During Light-Induced Retinal Degeneration. ( 30933260 )
2019
15
Molecular profiling of resident and infiltrating mononuclear phagocytes during rapid adult retinal degeneration using single-cell RNA sequencing. ( 30890724 )
2019
16
Retinoic Acid Induces Hyperactivity, and Blocking Its Receptor Unmasks Light Responses and Augments Vision in Retinal Degeneration. ( 30876849 )
2019
17
Impaired ABCA1/ABCG1-mediated lipid efflux in the mouse retinal pigment epithelium (RPE) leads to retinal degeneration. ( 30864945 )
2019
18
Diagnostic utility of clinical and laboratory test parameters for differentiating between sudden acquired retinal degeneration syndrome and pituitary-dependent hyperadrenocorticism in dogs. ( 30864251 )
2019
19
Development of a Post-vitrectomy Injection of N-methyl-N-nitrosourea as a Localized Retinal Degeneration Rabbit Model. ( 30853825 )
2019
20
Blue Autofluorescence Fundus Imaging for Monitoring Retinal Degeneration in Royal College of Surgeons Rats. ( 30834174 )
2019
21
Corrigendum to "Cell Death Mechanisms in a Mouse Model of Retinal Degeneration in Spinocerebellar Ataxia 7" [Neuroscience 400C (2019) 72-84]. ( 30825441 )
2019
22
Evaluation of the major histocompatibility complex (MHC) class II as a candidate for sudden acquired retinal degeneration syndrome (SARDS) in Dachshunds. ( 30791205 )
2019
23
Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt disease using en face OCT and OCT Angiography. ( 30771335 )
2019
24
Abnormal intrinsic functional network hubs and connectivity following peripheral visual loss because of inherited retinal degeneration. ( 30763285 )
2019
25
Preclinical Evaluation of Long-Term Neuroprotective Effects of BDNF-Engineered Mesenchymal Stromal Cells as Intravitreal Therapy for Chronic Retinal Degeneration in Rd6 Mutant Mice. ( 30759764 )
2019
26
Inflammation, necrosis, and the kinase RIP3 are key mediators of AAG-dependent alkylation-induced retinal degeneration. ( 30755477 )
2019
27
Erratum for the Research Article: "Clinical-grade stem cell-derived retinal pigment epithelium patch rescues retinal degeneration in rodents and pigs" by R. Sharma, V. Khristov, A. Rising, B. S. Jha, R. Dejene, N. Hotaling, Y. Li, J. Stoddard, C. Stankewicz, Q. Wan, C. Zhang, M. M. Campos, K. J. Miyagishima, D. McGaughey, R. Villasmil, M. Mattapallil, B. Stanzel, H. Qian, W. Wong, L. Chase, S. Charles, T. McGill, S. Miller, A. Maminishkis, J. Amaral, K. Bharti. ( 30728289 )
2019
28
Hyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration. ( 30696906 )
2019
29
The findings of optical coherence tomography of retinal degeneration in relation to the morphological and electroretinographic features in RPE65-/- mice. ( 30695025 )
2019
30
Differential effects of N-acetylcysteine on retinal degeneration in two mouse models of normal tension glaucoma. ( 30692515 )
2019
31
Gene Therapy for Inherited Retinal Degeneration. ( 30688548 )
2019
32
Loss of miR-210 leads to progressive retinal degeneration in Drosophila melanogaster. ( 30670478 )
2019
33
Absence of TGFβ signaling in retinal microglia induces retinal degeneration and exacerbates choroidal neovascularization. ( 30666961 )
2019
34
Progesterone anti-inflammatory properties in hereditary retinal degeneration. ( 30654106 )
2019
35
Clinical-grade stem cell-derived retinal pigment epithelium patch rescues retinal degeneration in rodents and pigs. ( 30651323 )
2019
36
In vivo MRI assessment of bioactive magnetic iron oxide/human serum albumin nanoparticle delivery into the posterior segment of the eye in a rat model of retinal degeneration. ( 30630490 )
2019
37
Cell Death Mechanisms in a Mouse Model of Retinal Degeneration in Spinocerebellar Ataxia 7. ( 30625334 )
2019
38
Transmission Electron Microscopy Data on drusen-like deposits in the retinal degeneration sTg-IRBP: HEL mouse model. ( 30581918 )
2019
39
Attenuation of Inherited and Acquired Retinal Degeneration Progression with Gene-based Techniques. ( 30569401 )
2019
40
Retinal degeneration 3 (RD3) protein, a retinal guanylyl cyclase regulator, forms a monomeric and elongated four-helix bundle. ( 30559291 )
2019
41
The potential of small molecule brain-derived neurotrophic factor: mimetics to treat inherited retinal degeneration. ( 30531081 )
2019
42
Evidence of retinal degeneration in Wolfram syndrome. ( 30507261 )
2019
43
Medium- to long-term survival and functional examination of human iPSC-derived retinas in rat and primate models of retinal degeneration. ( 30502055 )
2019
44
Generation and Analysis of Xenopus laevis Models of Retinal Degeneration Using CRISPR/Cas9. ( 30324446 )
2019
45
Light Damage Models of Retinal Degeneration. ( 30324444 )
2019
46
Testing for Known Retinal Degeneration Mutants in Mouse Strains. ( 30324435 )
2019
47
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. ( 30285110 )
2019
48
Protective effects of autophagy against blue light-induced retinal degeneration in aged mice. ( 30238280 )
2019
49
Optical coherence tomography and molecular analysis of sudden acquired retinal degeneration syndrome (SARDS) eyes suggests the immune-mediated nature of retinal damage. ( 30109754 )
2019
50
CHOROIDEREMIA: Retinal Degeneration With an Unmet Need. ( 31021898 )
2019

Variations for Retinal Degeneration

ClinVar genetic disease variations for Retinal Degeneration:

6 (show top 50) (show all 170)
# Gene Variation Type Significance SNP ID Assembly Location
1 C1QTNF5; MFRP NM_031433.3(MFRP): c.492C> T (p.Tyr164=) single nucleotide variant Benign/Likely benign rs36015759 GRCh38 Chromosome 11, 119345569: 119345569
2 C1QTNF5; MFRP NM_031433.3(MFRP): c.492C> T (p.Tyr164=) single nucleotide variant Benign/Likely benign rs36015759 GRCh37 Chromosome 11, 119216279: 119216279
3 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1002G> A single nucleotide variant Benign/Likely benign rs138370910 GRCh37 Chromosome 11, 119212363: 119212363
4 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1002G> A single nucleotide variant Benign/Likely benign rs138370910 GRCh38 Chromosome 11, 119341653: 119341653
5 C1QTNF5 NM_015645.4(C1QTNF5): c.*345G> T single nucleotide variant Uncertain significance rs551431328 GRCh37 Chromosome 11, 119209696: 119209696
6 C1QTNF5 NM_015645.4(C1QTNF5): c.*345G> T single nucleotide variant Uncertain significance rs551431328 GRCh38 Chromosome 11, 119338986: 119338986
7 C1QTNF5 NM_015645.4(C1QTNF5): c.*158C> A single nucleotide variant Uncertain significance rs886047817 GRCh37 Chromosome 11, 119209883: 119209883
8 C1QTNF5 NM_015645.4(C1QTNF5): c.*158C> A single nucleotide variant Uncertain significance rs886047817 GRCh38 Chromosome 11, 119339173: 119339173
9 C1QTNF5; MFRP NG_012235.1: g.12255T> C single nucleotide variant Uncertain significance rs779732274 GRCh37 Chromosome 11, 119210129: 119210129
10 C1QTNF5; MFRP NG_012235.1: g.12255T> C single nucleotide variant Uncertain significance rs779732274 GRCh38 Chromosome 11, 119339419: 119339419
11 C1QTNF5; MFRP NG_012235.1: g.12178C> T single nucleotide variant Uncertain significance rs371634525 GRCh37 Chromosome 11, 119210206: 119210206
12 C1QTNF5; MFRP NG_012235.1: g.12178C> T single nucleotide variant Uncertain significance rs371634525 GRCh38 Chromosome 11, 119339496: 119339496
13 C1QTNF5 NM_015645.4(C1QTNF5): c.-719C> T single nucleotide variant Uncertain significance rs886047826 GRCh37 Chromosome 11, 119212080: 119212080
14 C1QTNF5 NM_015645.4(C1QTNF5): c.-719C> T single nucleotide variant Uncertain significance rs886047826 GRCh38 Chromosome 11, 119341370: 119341370
15 C1QTNF5; MFRP NG_012235.1: g.10187G> T single nucleotide variant Uncertain significance rs752071088 GRCh37 Chromosome 11, 119212197: 119212197
16 C1QTNF5; MFRP NG_012235.1: g.10187G> T single nucleotide variant Uncertain significance rs752071088 GRCh38 Chromosome 11, 119341487: 119341487
17 C1QTNF5 NM_015645.4(C1QTNF5): c.-888C> G single nucleotide variant Uncertain significance rs886047828 GRCh37 Chromosome 11, 119212249: 119212249
18 C1QTNF5 NM_015645.4(C1QTNF5): c.-888C> G single nucleotide variant Uncertain significance rs886047828 GRCh38 Chromosome 11, 119341539: 119341539
19 C1QTNF5; MFRP NG_012235.1: g.9946G> C single nucleotide variant Uncertain significance rs886047829 GRCh37 Chromosome 11, 119212438: 119212438
20 C1QTNF5; MFRP NG_012235.1: g.9946G> C single nucleotide variant Uncertain significance rs886047829 GRCh38 Chromosome 11, 119341728: 119341728
21 C1QTNF5; MFRP NG_012235.1: g.9763C> A single nucleotide variant Uncertain significance rs202139926 GRCh37 Chromosome 11, 119212621: 119212621
22 C1QTNF5; MFRP NG_012235.1: g.9763C> A single nucleotide variant Uncertain significance rs202139926 GRCh38 Chromosome 11, 119341911: 119341911
23 C1QTNF5 NM_015645.4(C1QTNF5): c.-1271G> A single nucleotide variant Uncertain significance rs369531002 GRCh37 Chromosome 11, 119213327: 119213327
24 C1QTNF5 NM_015645.4(C1QTNF5): c.-1271G> A single nucleotide variant Uncertain significance rs369531002 GRCh38 Chromosome 11, 119342617: 119342617
25 C1QTNF5; MFRP NG_012235.1: g.7840C> T single nucleotide variant Uncertain significance rs886047831 GRCh37 Chromosome 11, 119214544: 119214544
26 C1QTNF5; MFRP NG_012235.1: g.7840C> T single nucleotide variant Uncertain significance rs886047831 GRCh38 Chromosome 11, 119343834: 119343834
27 C1QTNF5; MFRP NG_012235.1: g.7355A> G single nucleotide variant Uncertain significance rs142198552 GRCh37 Chromosome 11, 119215029: 119215029
28 C1QTNF5; MFRP NG_012235.1: g.7355A> G single nucleotide variant Uncertain significance rs142198552 GRCh38 Chromosome 11, 119344319: 119344319
29 C1QTNF5; MFRP NG_012235.1: g.7338G> A single nucleotide variant Likely benign rs35885438 GRCh37 Chromosome 11, 119215046: 119215046
30 C1QTNF5; MFRP NG_012235.1: g.7338G> A single nucleotide variant Likely benign rs35885438 GRCh38 Chromosome 11, 119344336: 119344336
31 C1QTNF5; MFRP NG_012235.1: g.7293G> C single nucleotide variant Uncertain significance rs777996384 GRCh37 Chromosome 11, 119215091: 119215091
32 C1QTNF5; MFRP NG_012235.1: g.7293G> C single nucleotide variant Uncertain significance rs777996384 GRCh38 Chromosome 11, 119344381: 119344381
33 C1QTNF5; MFRP NG_012235.1: g.7005C> T single nucleotide variant Uncertain significance rs140710522 GRCh37 Chromosome 11, 119215379: 119215379
34 C1QTNF5; MFRP NG_012235.1: g.7005C> T single nucleotide variant Uncertain significance rs140710522 GRCh38 Chromosome 11, 119344669: 119344669
35 C1QTNF5; MFRP NG_012235.1: g.6733C> T single nucleotide variant Uncertain significance rs34190279 GRCh37 Chromosome 11, 119215651: 119215651
36 C1QTNF5; MFRP NG_012235.1: g.6733C> T single nucleotide variant Uncertain significance rs34190279 GRCh38 Chromosome 11, 119344941: 119344941
37 C1QTNF5; MFRP NG_012235.1: g.6940C> T single nucleotide variant Uncertain significance rs138295825 GRCh38 Chromosome 11, 119344734: 119344734
38 C1QTNF5; MFRP NG_012235.1: g.6940C> T single nucleotide variant Uncertain significance rs138295825 GRCh37 Chromosome 11, 119215444: 119215444
39 C1QTNF5; MFRP NM_031433.3(MFRP): c.1374G> T (p.Leu458Phe) single nucleotide variant Likely benign rs145881139 GRCh37 Chromosome 11, 119213319: 119213319
40 C1QTNF5; MFRP NM_031433.3(MFRP): c.1374G> T (p.Leu458Phe) single nucleotide variant Likely benign rs145881139 GRCh38 Chromosome 11, 119342609: 119342609
41 C1QTNF5; MFRP NM_031433.3(MFRP): c.1387+3G> A single nucleotide variant Benign/Likely benign rs11217241 GRCh37 Chromosome 11, 119213303: 119213303
42 C1QTNF5; MFRP NM_031433.3(MFRP): c.1387+3G> A single nucleotide variant Benign/Likely benign rs11217241 GRCh38 Chromosome 11, 119342593: 119342593
43 C1QTNF5; MFRP NM_031433.3(MFRP): c.773-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs187321874 GRCh38 Chromosome 11, 119344766: 119344766
44 C1QTNF5; MFRP NM_031433.3(MFRP): c.773-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs187321874 GRCh37 Chromosome 11, 119215476: 119215476
45 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1867G> A single nucleotide variant Benign/Likely benign rs61736238 GRCh38 Chromosome 11, 119344876: 119344876
46 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1867G> A single nucleotide variant Benign/Likely benign rs61736238 GRCh37 Chromosome 11, 119215586: 119215586
47 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2282A> G single nucleotide variant Benign/Likely benign rs4639950 GRCh38 Chromosome 11, 119345845: 119345845
48 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2282A> G single nucleotide variant Benign/Likely benign rs4639950 GRCh37 Chromosome 11, 119216555: 119216555
49 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2477C> G single nucleotide variant Benign/Likely benign rs139436396 GRCh38 Chromosome 11, 119346157: 119346157
50 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2477C> G single nucleotide variant Benign/Likely benign rs139436396 GRCh37 Chromosome 11, 119216867: 119216867

Copy number variations for Retinal Degeneration from CNVD:

7
# 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:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.56 C1QTNF5 CRB1 MFRP MYO7A
2 photoreceptor disc membrane GO:0097381 9.33 ABCA4 PDE6B RHO
3 photoreceptor inner segment GO:0001917 9.26 CRB1 MYO7A RHO TULP1
4 photoreceptor outer segment GO:0001750 9.1 ABCA4 MYO7A PRPH2 RHO RPGR TULP1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.91 ABCA4 NR2E3 NRL PDE6B RD3 RHO
2 retinoid metabolic process GO:0001523 9.67 ABCA4 RHO RPE65
3 photoreceptor cell maintenance GO:0045494 9.65 ABCA4 RHO TULP1
4 phototransduction GO:0007602 9.61 NR2E3 PITPNM1 RHO
5 response to light stimulus GO:0009416 9.56 RHO RPE65
6 retina development in camera-type eye GO:0060041 9.56 MFRP NR2E3 PDE6B PRPH2 RD3 RHO
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.55 PDE6B RHO
8 eye photoreceptor cell development GO:0042462 9.55 CRB1 MFRP MYO7A NR2E3 TULP1
9 detection of light stimulus involved in visual perception GO:0050908 9.54 RPE65 TULP1
10 sensory perception of light stimulus GO:0050953 9.52 MYO7A RHO
11 rhodopsin mediated signaling pathway GO:0016056 9.51 PDE6B RHO
12 phototransduction, visible light GO:0007603 9.5 ABCA4 PDE6B RHO
13 detection of light stimulus GO:0009583 9.46 PDE6B RHO
14 visual perception GO:0007601 9.44 ABCA4 ATXN7 MFRP MYO7A NR2E3 NRL
15 positive regulation of rhodopsin gene expression GO:0045872 9.4 NR2E3 NRL
16 regulation of rhodopsin gene expression GO:0007468 9.37 NRL RPE65

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylcholine binding GO:0031210 8.96 PITPNM1 RPE65
2 phospholipid transporter activity GO:0005548 8.62 ABCA4 PITPNM1

Sources for Retinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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