MCID: RTN016
MIFTS: 54

Retinal Degeneration

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinal Degeneration

MalaCards integrated aliases for Retinal Degeneration:

Name: Retinal Degeneration 12 76 29 55 6 44 15 40 73
Degeneration of Retina 12
Retina Degeneration 12

Classifications:



External Ids:

Disease Ontology 12 DOID:8466
MeSH 44 D012162
NCIt 50 C34979
SNOMED-CT 68 95695004
UMLS 73 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 enhanced s-cone syndrome. An important gene associated with Retinal Degeneration is RPE65 (RPE65, Retinoid Isomerohydrolase), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. The drugs Lidocaine and Dorzolamide 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 : 76 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 207)
# Related Disease Score Top Affiliating Genes
1 peripheral retinal degeneration 34.5 PRPH2 RPGR
2 enhanced s-cone syndrome 33.2 MFRP NR2E3 NRL
3 goldmann-favre syndrome 33.1 NR2E3 NRL
4 degeneration of macula and posterior pole 32.5 ABCA4 RHO RPE65
5 macular degeneration, age-related, 1 32.5 ABCA4 CRB1 MFRP PDE6B PRPH2 RHO
6 retinitis 32.3 PRPH2 RHO RPGR
7 cone-rod dystrophy 2 31.3 ABCA4 ATXN7 CRB1 PRPH2 RHO RPE65
8 night blindness 30.4 PDE6B RHO RPE65
9 retinitis pigmentosa 30.2 ABCA4 CRB1 MFRP MYO7A NR2E3 NRL
10 stargardt disease 29.7 ABCA4 CRB1 MYO7A PRPH2 RHO RPE65
11 cancer-associated retinopathy 29.6 RHO TULP1
12 leber congenital amaurosis 28.5 ABCA4 CRB1 MFRP MYO7A NRL PDE6B
13 retinal disease 28.5 ABCA4 CRB1 MYO7A NRL PDE6B PRPH2
14 fundus dystrophy 27.9 ABCA4 C1QTNF5 CRB1 MFRP MYO7A NR2E3
15 late-onset retinal degeneration 12.5
16 infantile cerebellar-retinal degeneration 12.5
17 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.2
18 lattice degeneration of retina leading to retinal detachment 12.1
19 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration 12.0
20 cobblestone retinal degeneration 12.0
21 senile reticular retinal degeneration 11.9
22 cystoid macular retinal degeneration 11.9
23 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies 11.9
24 retinal degeneration and epilepsy 11.9
25 retinitis pigmentosa 27 11.9
26 spastic paraplegia 15, autosomal recessive 11.8
27 spinocerebellar ataxia 7 11.8
28 oliver-mcfarlane syndrome 11.6
29 spastic paraplegia 15 11.4
30 blessig's cysts 11.4
31 leber congenital amaurosis 4 11.2
32 retinitis pigmentosa 41 11.1
33 bardet-biedl syndrome 2 11.1
34 aceruloplasminemia 11.1
35 choroideremia 11.1
36 vitreoretinopathy, neovascular inflammatory 11.1
37 autoimmune retinopathy 11.1
38 nanophthalmos 2 11.0 C1QTNF5 MFRP
39 microphthalmia, isolated 5 11.0 C1QTNF5 MFRP
40 pseudoretinitis pigmentosa 11.0
41 neurodegeneration with brain iron accumulation 11.0
42 microphthalmia, isolated 6 11.0 C1QTNF5 MFRP
43 solar retinopathy 11.0 ATXN7 RHO
44 leber congenital amaurosis 12 10.9 RD3 RPE65
45 abetalipoproteinemia 10.9
46 spondylometaphyseal dysplasia, axial 10.9
47 kuhnt-junius degeneration 10.9
48 optic disk drusen 10.9 CRB1 MFRP RHO
49 athetosis 10.9 ACO2 CP
50 severe early-childhood-onset retinal dystrophy 10.8 ABCA4 RPE65

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 TULP1 MYO7A NR2E3 NRL PDE6B ABCA4
2 pigmentation MP:0001186 9.77 MYO7A NRL PDE6B ABCA4 PRPH2 C1QTNF5
3 vision/eye MP:0005391 9.55 MYO7A NR2E3 NRL PDE6B PITPNM1 ABCA4

Drugs & Therapeutics for Retinal Degeneration

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

(show top 50) (show all 417)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Not Applicable 137-58-6 3676
2
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 3154 5284549
3
Ranibizumab Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 347396-82-1 459903
4
Verteporfin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 129497-78-5
5
Ephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 299-42-3 9294
6
Pseudoephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 90-82-4 7028
7
Diclofenac Approved, Vet_approved Phase 4,Phase 1,Not Applicable 15307-86-5 3033
8
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-02-2 5743
9
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 124-94-7 31307
10
Nepafenac Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 78281-72-8 151075
11
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 67-73-2 6215
12
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 216974-75-3
13
Temazepam Approved, Investigational Phase 4,Phase 3,Not Applicable 846-50-4 5391
14
Povidone-iodine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 25655-41-8
15
Zinc Approved, Investigational Phase 4,Phase 3,Not Applicable 7440-66-6 23994
16
Menthol Approved Phase 4,Not Applicable 2216-51-5 16666
17
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
18
Dopamine Approved Phase 4,Phase 2,Phase 1,Not Applicable 51-61-6, 62-31-7 681
19
Ketorolac Approved Phase 4,Phase 2,Phase 3,Not Applicable 74103-06-3, 66635-83-4 3826
20
Moxifloxacin Approved, Investigational Phase 4,Not Applicable 354812-41-2, 151096-09-2 152946
21
Timolol Approved Phase 4,Phase 2,Phase 3,Not Applicable 26839-75-8 33624 5478
22
Methotrexate Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
23
Bromocriptine Approved, Investigational Phase 4,Phase 1,Phase 2 25614-03-3 31101
24
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
25
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
26
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3 378-44-9 9782
27
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
28
Benzocaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
29
Latanoprost Approved, Investigational Phase 4,Phase 2 130209-82-4 5282380 5311221
30
Bimatoprost Approved, Investigational Phase 4,Phase 2 155206-00-1 5311027
31
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
32
Travoprost Approved Phase 4 157283-68-6 5282226
33
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
34 Homatropine Approved Phase 4 87-00-3
35
Rasagiline Approved Phase 4 136236-51-6 3052776
36
Glimepiride Approved Phase 4 93479-97-1 3476
37
Empagliflozin Approved Phase 4 864070-44-0
38
Theobromine Approved, Investigational Phase 4 83-67-0 5429
39
Difluprednate Approved Phase 4 23674-86-4 443936
40
Fluprednisolone Approved Phase 4 53-34-9
41
Vitamin C Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 50-81-7 5785 54670067
42
Lutein Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 127-40-2 6433159
43
Tocopherol Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 1,Not Applicable 1406-66-2 14986
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 59-30-3 6037
45
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable 59-02-9 14985
46
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 58-05-9 143 6006
47
Histidine Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 71-00-1 6274
48 tannic acid Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1
49
Lactitol Investigational Phase 4,Phase 3,Phase 2,Not Applicable 585-86-4 3871
50
Bromfenac Approved July 1997 Phase 4,Phase 3,Phase 2,Phase 1 91714-94-2 60726

Interventional clinical trials:

(show top 50) (show all 1571)
# 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 Safety and Efficacy of Two Regimens of Ranibizumab 0.5 mg in Chinese Patients With Neovascular AMD Unknown status NCT02810808 Phase 4 Ranibizumab
4 Treat and Extend Therapy Study Using Intravitreal Aflibercept for Patients Exited From Protocol VGFT-OD 0910 Unknown status NCT01961414 Phase 4 Aflibercept
5 Treatment of AMD With Rheohemapheresis /RHF/ Unknown status NCT01943396 Phase 4
6 Aflibercept (EYLEA)as Secondary or Third Line Treatment for Neovascular Age-related Macular Degeneration. Unknown status NCT01918878 Phase 4 Aflibercept (EYLEA)
7 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
8 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab;Ranibizumab;Ranibizumab
9 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)
10 PRedictive Factors and Changes From Treatment in Idiopathic Polypoidal Choroidal Vasuclopathy Versus Central Serous Chorioretinopathy Versus Neovascular Age Related Macular Degeneration With afLibercept Unknown status NCT02681783 Phase 4 aflibercept
11 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
12 The Endurance 1 Trial Unknown status NCT02297204 Phase 4 aflibercept 2.0 mg
13 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4 bevacizumab;bevacizumab
14 Combination OZURDEX® & LUCENTIS® vs. OZURDEX® Monotherapy in Incomplete-Responders With Diabetic Macular Edema Unknown status NCT02684084 Phase 4 Ozurdex;Lucentis
15 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
16 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
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 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4 bevacizumab (Sub-tenon´s injection)
19 Posterior Subtenon Versus Intravitreal Injection of Triamcinolone Acetonide for Treatment of Uveitic Cystoid Macular Edema Unknown status NCT02598869 Phase 4 Triamcinolone Acetonide
20 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
21 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
22 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
23 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Occlusion Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
24 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
25 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Unknown status NCT02055911 Phase 4 Ranibizumab
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 Single or Combined Protocols for NV-AMD Completed NCT03552770 Phase 4 Bevacizumab
32 Efficacy of Fixed Monthly Dosing of Ranibizumab in Neovascular Age-related Macular Degeneration Completed NCT02944227 Phase 4 Lucentis
33 Functional and Structural Outcomes in Neovascular Age-related Macular Degeneration Completed NCT02843490 Phase 4 Ranibizumab
34 Head to Head Study of Anti-VEGF Treatment. Completed NCT02577107 Phase 4 ranibizumab;Conbercept
35 VITAL - Individualising Therapy for Neovascular AMD With Aflibercept Completed NCT02441816 Phase 4 Aflibercept
36 Intravitreal Aflibercept in Neovascular AMD With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
37 Japanese Treat and Extend Study of Aflibercept in Neovascular Age-related Macular Degeneration Completed NCT02305238 Phase 4 Aflibercept (Eylea, VEGF Trap-Eye, BAY86-5321)
38 Systemic VEGF Protein Dynamics Following Intravitreal Injections of Ranibizumab Versus Aflibercept in Patients With Neovascular Age-related Macular Degeneration Completed NCT02257632 Phase 4 Ranibizumab;Aflibercept
39 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
40 Safety and Efficacy of Switching From Aflibercept to Ranibizumab in Patients With nAMD Completed NCT02161575 Phase 4 Ranibizumab
41 Plasma Levels of Vascular Endothelial Growth Factor Before and After Intravitreal Injection of Aflibercept Completed NCT02125864 Phase 4 Aflibercept
42 Pilot Study of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4 Ketorolac + Ranibizumab;Ranibizumab
43 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
44 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
45 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
46 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4 Aflibercept
47 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
48 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)
49 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4 aflibercept 2.0 mg
50 A 16 Week Evaluation of the Novartis Health Management Tool (HMT) in Age Related Macular Degeneration (AMD) Completed NCT01542866 Phase 4

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 29

Anatomical Context for Retinal Degeneration

MalaCards organs/tissues related to Retinal Degeneration:

41
Eye, Retina, Endothelial, Bone, Testes, Bone Marrow, Skin

Publications for Retinal Degeneration

Articles related to Retinal Degeneration:

(show top 50) (show all 892)
# Title Authors Year
1
The P2Y<sub>12</sub> Receptor Antagonist Ticagrelor Reduces Lysosomal pH and Autofluorescence in Retinal Pigmented Epithelial Cells From the ABCA4<sup>-/-</sup> Mouse Model of Retinal Degeneration. ( 29725296 )
2018
2
A novel small molecule chaperone of rod opsin and its potential therapy for retinal degeneration. ( 29773803 )
2018
3
Inhibition of non-NMDA ionotropic glutamate receptors delays the retinal degeneration in rd10 mouse. ( 29940208 )
2018
4
Sheets of human retinal progenitor transplants improve vision in rats with severe retinal degeneration. ( 29782826 )
2018
5
Anti-TRPM1 antibodies in patients with retinal degeneration. ( 29927037 )
2018
6
Chemical shift assignments of retinal degeneration 3 protein (RD3). ( 29327102 )
2018
7
Xanthohumol Protects Morphology and Function in a Mouse Model of Retinal Degeneration. ( 29305606 )
2018
8
Novel Animal Model of Crumbs-Dependent Progressive Retinal Degeneration That Targets Specific Cone Subtypes. ( 29368007 )
2018
9
Reprogramming the metabolome rescues retinal degeneration. ( 29332245 )
2018
10
High-resolution Imaging in Male Germ Cell-Associated Kinase (MAK)-related Retinal Degeneration. ( 29103961 )
2018
11
Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency. ( 29916295 )
2018
12
Alpha-1 Antitrypsin Attenuates M1 Microglia-Mediated Neuroinflammation in Retinal Degeneration. ( 29899745 )
2018
13
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration. ( 29343940 )
2018
14
SOCS3 deficiency in myeloid cells promotes retinal degeneration and angiogenesis through arginase-1 up-regulation in experimental autoimmune uveoretinitis. ( 29452101 )
2018
15
The neuroprotective and antioxidative effects of submicron and blended Lycium barbarum in experimental retinal degeneration in rats. ( 29760314 )
2018
16
Full-field ERG as a predictor of the natural course of<i>ABCA4</i>-associated retinal degenerations. ( 29386879 )
2018
17
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. ( 29978320 )
2018
18
Reduced Disc Shedding and Phagocytosis of Photoreceptor Outer Segment Contributes to Kava Kava Extract-induced Retinal Degeneration in F344/N Rats. ( 29806545 )
2018
19
Inhibiting autophagy reduces retinal degeneration caused by protein misfolding. ( 29940785 )
2018
20
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. ( 29674119 )
2018
21
Expression Profiling Analysis Reveals Key MicroRNA-mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa. ( 29847644 )
2018
22
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. ( 29271569 )
2018
23
Adenosine A1 receptor: A neuroprotective target in light induced retinal degeneration. ( 29912966 )
2018
24
Long non-coding RNA MEG3 silencing protects against light-induced retinal degeneration. ( 29409883 )
2018
25
Author Correction: Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29511293 )
2018
26
Cell Death Pathways in Mutant Rhodopsin Rat Models Identifies Genotype-Specific Targets Controlling Retinal Degeneration. ( 29911255 )
2018
27
Antagonistic regulation of trafficking to<i>Caenorhabditis elegans</i>sensory cilia by a<i>Retinal Degeneration 3</i>homolog and retromer. ( 29282322 )
2018
28
Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line. ( 29753273 )
2018
29
Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29352199 )
2018
30
Rasagiline delays retinal degeneration in a mouse model of retinitis pigmentosa via modulation of Bax/Bcl-2 expression. ( 29372592 )
2018
31
Retinal degeneration mutation in Sftpa1tm1Kor/J and Sftpd -/- targeted mice. ( 29969487 )
2018
32
A model to study complement involvement in experimental retinal degeneration. ( 29436895 )
2018
33
IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration. ( 29923190 )
2018
34
Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene. ( 29942180 )
2018
35
Bilateral rhegmatogenous retinal detachment due to unusual retinal degeneration in Down syndrome: A case report. ( 29851814 )
2018
36
HIF-1I+ stabilization reduces retinal degeneration in a mouse model of retinitis pigmentosa. ( 29295858 )
2018
37
Retinal Degeneration in Choroideremia follows an Exponential Decay Function. ( 29580667 )
2018
38
Lipoic Acid and Progesterone Alone or in Combination Ameliorate Retinal Degeneration in an Experimental Model of Hereditary Retinal Degeneration. ( 29867476 )
2018
39
Acute and Protracted Cell Death in Light-Induced Retinal Degeneration in the Canine Model of Rhodopsin Autosomal Dominant Retinitis Pigmentosa. ( 28114588 )
2017
40
Human ESC-derived retinal epithelial cell sheets potentiate rescue of photoreceptor cell loss in rats with retinal degeneration. ( 29263231 )
2017
41
Nestin Expression in the Adult Mouse Retina with Pharmaceutically Induced Retinal Degeneration. ( 28049248 )
2017
42
iPSC-Derived Retina Transplants Improve Vision in rd1 End-Stage Retinal-Degeneration Mice. ( 28076757 )
2017
43
Transgenic Mice Over-Expressing RBP4 Have RBP4-Dependent and Light-Independent Retinal Degeneration. ( 28813718 )
2017
44
A novel RIPK1 inhibitor that prevents retinal degeneration in a rat glaucoma model. ( 28803066 )
2017
45
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. ( 28285769 )
2017
46
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
47
Restoring vision in mice with retinal degeneration using multicharacteristic opsin. ( 28948190 )
2017
48
Microglia Polarization with M1/M2 Phenotype Changes in rd1 Mouse Model of Retinal Degeneration. ( 28928639 )
2017
49
Human umbilical cord mesenchymal stem cells: subpopulations and their difference in cell biology and effects on retinal degeneration in RCS rats. ( 29210653 )
2017
50
Expression profiling of the retina of pde6c, a zebrafish model of retinal degeneration. ( 29231925 )
2017

Variations for Retinal Degeneration

ClinVar genetic disease variations for Retinal Degeneration:

6
(show top 50) (show all 164)
# Gene Variation Type Significance SNP ID Assembly Location
1 C1QTNF5; MFRP NM_031433.3(MFRP): c.406G> A (p.Val136Met) single nucleotide variant Benign/Likely benign rs3814762 GRCh37 Chromosome 11, 119216504: 119216504
2 C1QTNF5; MFRP NM_031433.3(MFRP): c.406G> A (p.Val136Met) single nucleotide variant Benign/Likely benign rs3814762 GRCh38 Chromosome 11, 119345794: 119345794
3 C1QTNF5; MFRP NM_031433.3(MFRP): c.629G> T (p.Gly210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150902999 GRCh37 Chromosome 11, 119216142: 119216142
4 C1QTNF5; MFRP NM_031433.3(MFRP): c.629G> T (p.Gly210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150902999 GRCh38 Chromosome 11, 119345432: 119345432
5 C1QTNF5; MFRP NM_031433.3(MFRP): c.1014C> A (p.Ser338Arg) single nucleotide variant Uncertain significance rs145319149 GRCh37 Chromosome 11, 119214636: 119214636
6 C1QTNF5; MFRP NM_031433.3(MFRP): c.1014C> A (p.Ser338Arg) single nucleotide variant Uncertain significance rs145319149 GRCh38 Chromosome 11, 119343926: 119343926
7 C1QTNF5; MFRP NM_031433.3(MFRP): c.540T> C (p.His180=) single nucleotide variant Benign/Likely benign rs2510143 GRCh37 Chromosome 11, 119216231: 119216231
8 C1QTNF5; MFRP NM_031433.3(MFRP): c.540T> C (p.His180=) single nucleotide variant Benign/Likely benign rs2510143 GRCh38 Chromosome 11, 119345521: 119345521
9 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1002G> A single nucleotide variant Benign/Likely benign rs138370910 GRCh37 Chromosome 11, 119212363: 119212363
10 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1002G> A single nucleotide variant Benign/Likely benign rs138370910 GRCh38 Chromosome 11, 119341653: 119341653
11 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2478T> C single nucleotide variant Uncertain significance rs372897338 GRCh37 Chromosome 11, 119216868: 119216868
12 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2478T> C single nucleotide variant Uncertain significance rs372897338 GRCh38 Chromosome 11, 119346158: 119346158
13 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2477C> G single nucleotide variant Benign/Likely benign rs139436396 GRCh37 Chromosome 11, 119216867: 119216867
14 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2477C> G single nucleotide variant Benign/Likely benign rs139436396 GRCh38 Chromosome 11, 119346157: 119346157
15 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2282A> G single nucleotide variant Benign/Likely benign rs4639950 GRCh37 Chromosome 11, 119216555: 119216555
16 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2282A> G single nucleotide variant Benign/Likely benign rs4639950 GRCh38 Chromosome 11, 119345845: 119345845
17 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1867G> A single nucleotide variant Benign/Likely benign rs61736238 GRCh37 Chromosome 11, 119215586: 119215586
18 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1867G> A single nucleotide variant Benign/Likely benign rs61736238 GRCh38 Chromosome 11, 119344876: 119344876
19 C1QTNF5; MFRP NM_031433.3(MFRP): c.773-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs187321874 GRCh37 Chromosome 11, 119215476: 119215476
20 C1QTNF5; MFRP NM_031433.3(MFRP): c.773-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs187321874 GRCh38 Chromosome 11, 119344766: 119344766
21 C1QTNF5; MFRP NM_031433.3(MFRP): c.1387+3G> A single nucleotide variant Likely benign rs11217241 GRCh38 Chromosome 11, 119342593: 119342593
22 C1QTNF5; MFRP NM_031433.3(MFRP): c.1387+3G> A single nucleotide variant Likely benign rs11217241 GRCh37 Chromosome 11, 119213303: 119213303
23 C1QTNF5; MFRP NM_031433.3(MFRP): c.1374G> T (p.Leu458Phe) single nucleotide variant Likely benign rs145881139 GRCh38 Chromosome 11, 119342609: 119342609
24 C1QTNF5; MFRP NM_031433.3(MFRP): c.1374G> T (p.Leu458Phe) single nucleotide variant Likely benign rs145881139 GRCh37 Chromosome 11, 119213319: 119213319
25 C1QTNF5; MFRP NG_012235.1: g.6940C> T single nucleotide variant Uncertain significance rs138295825 GRCh37 Chromosome 11, 119215444: 119215444
26 C1QTNF5; MFRP NG_012235.1: g.6940C> T single nucleotide variant Uncertain significance rs138295825 GRCh38 Chromosome 11, 119344734: 119344734
27 C1QTNF5 NM_015645.4(C1QTNF5): c.*345G> T single nucleotide variant Uncertain significance rs551431328 GRCh37 Chromosome 11, 119209696: 119209696
28 C1QTNF5 NM_015645.4(C1QTNF5): c.*345G> T single nucleotide variant Uncertain significance rs551431328 GRCh38 Chromosome 11, 119338986: 119338986
29 C1QTNF5 NM_015645.4(C1QTNF5): c.*158C> A single nucleotide variant Uncertain significance rs886047817 GRCh37 Chromosome 11, 119209883: 119209883
30 C1QTNF5 NM_015645.4(C1QTNF5): c.*158C> A single nucleotide variant Uncertain significance rs886047817 GRCh38 Chromosome 11, 119339173: 119339173
31 C1QTNF5; MFRP NG_012235.1: g.12255T> C single nucleotide variant Uncertain significance rs779732274 GRCh37 Chromosome 11, 119210129: 119210129
32 C1QTNF5; MFRP NG_012235.1: g.12255T> C single nucleotide variant Uncertain significance rs779732274 GRCh38 Chromosome 11, 119339419: 119339419
33 C1QTNF5; MFRP NG_012235.1: g.12178C> T single nucleotide variant Uncertain significance rs371634525 GRCh37 Chromosome 11, 119210206: 119210206
34 C1QTNF5; MFRP NG_012235.1: g.12178C> T single nucleotide variant Uncertain significance rs371634525 GRCh38 Chromosome 11, 119339496: 119339496
35 C1QTNF5 NM_015645.4(C1QTNF5): c.-719C> T single nucleotide variant Uncertain significance rs886047826 GRCh37 Chromosome 11, 119212080: 119212080
36 C1QTNF5 NM_015645.4(C1QTNF5): c.-719C> T single nucleotide variant Uncertain significance rs886047826 GRCh38 Chromosome 11, 119341370: 119341370
37 C1QTNF5; MFRP NG_012235.1: g.10187G> T single nucleotide variant Uncertain significance rs752071088 GRCh37 Chromosome 11, 119212197: 119212197
38 C1QTNF5; MFRP NG_012235.1: g.10187G> T single nucleotide variant Uncertain significance rs752071088 GRCh38 Chromosome 11, 119341487: 119341487
39 C1QTNF5 NM_015645.4(C1QTNF5): c.-888C> G single nucleotide variant Uncertain significance rs886047828 GRCh37 Chromosome 11, 119212249: 119212249
40 C1QTNF5 NM_015645.4(C1QTNF5): c.-888C> G single nucleotide variant Uncertain significance rs886047828 GRCh38 Chromosome 11, 119341539: 119341539
41 C1QTNF5; MFRP NG_012235.1: g.9946G> C single nucleotide variant Uncertain significance rs886047829 GRCh37 Chromosome 11, 119212438: 119212438
42 C1QTNF5; MFRP NG_012235.1: g.9946G> C single nucleotide variant Uncertain significance rs886047829 GRCh38 Chromosome 11, 119341728: 119341728
43 C1QTNF5; MFRP NG_012235.1: g.9763C> A single nucleotide variant Uncertain significance rs202139926 GRCh37 Chromosome 11, 119212621: 119212621
44 C1QTNF5; MFRP NG_012235.1: g.9763C> A single nucleotide variant Uncertain significance rs202139926 GRCh38 Chromosome 11, 119341911: 119341911
45 C1QTNF5 NM_015645.4(C1QTNF5): c.-1271G> A single nucleotide variant Uncertain significance rs369531002 GRCh37 Chromosome 11, 119213327: 119213327
46 C1QTNF5 NM_015645.4(C1QTNF5): c.-1271G> A single nucleotide variant Uncertain significance rs369531002 GRCh38 Chromosome 11, 119342617: 119342617
47 C1QTNF5; MFRP NG_012235.1: g.7840C> T single nucleotide variant Uncertain significance rs886047831 GRCh37 Chromosome 11, 119214544: 119214544
48 C1QTNF5; MFRP NG_012235.1: g.7840C> T single nucleotide variant Uncertain significance rs886047831 GRCh38 Chromosome 11, 119343834: 119343834
49 C1QTNF5; MFRP NG_012235.1: g.7355A> G single nucleotide variant Uncertain significance rs142198552 GRCh37 Chromosome 11, 119215029: 119215029
50 C1QTNF5; MFRP NG_012235.1: g.7355A> G single nucleotide variant Uncertain significance rs142198552 GRCh38 Chromosome 11, 119344319: 119344319

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 15)
# 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 retina development in camera-type eye GO:0060041 9.56 MFRP NR2E3 PDE6B PRPH2 RD3 RHO
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.55 PDE6B RHO
7 eye photoreceptor cell development GO:0042462 9.55 CRB1 MFRP MYO7A NR2E3 TULP1
8 detection of light stimulus involved in visual perception GO:0050908 9.54 RPE65 TULP1
9 rhodopsin mediated signaling pathway GO:0016056 9.52 PDE6B RHO
10 sensory perception of light stimulus GO:0050953 9.51 MYO7A RHO
11 phototransduction, visible light GO:0007603 9.5 ABCA4 PDE6B RHO
12 detection of light stimulus GO:0009583 9.46 PDE6B RHO
13 visual perception GO:0007601 9.44 ABCA4 ATXN7 MFRP MYO7A NR2E3 NRL
14 regulation of rhodopsin gene expression GO:0007468 9.4 NRL RPE65
15 positive regulation of rhodopsin gene expression GO:0045872 9.37 NR2E3 NRL

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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38 LifeMap
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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