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 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 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 retina, eye and bone, 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 230)
# Related Disease Score Top Affiliating Genes
1 peripheral retinal degeneration 33.9 PRPH2 RPGR
2 macular degeneration, age-related, 1 32.9 ABCA4 CRB1 PRPH2 RHO RPE65
3 goldmann-favre syndrome 32.3 NR2E3 NRL
4 degeneration of macula and posterior pole 32.1 ABCA4 RHO RPE65
5 cone-rod dystrophy 2 31.8 ABCA4 NR2E3 PRPH2 RHO RPE65 RPGR
6 retinitis pigmentosa 31.7 ABCA4 CRB1 MFRP MYO7A NR2E3 NRL
7 retinitis 31.2 PRPH2 RHO RPGR
8 night blindness 30.1 PDE6B RHO RPE65
9 fundus albipunctatus 30.0 MFRP PDE6B PRPH2 RHO RPE65
10 stargardt disease 29.9 ABCA4 CRB1 MYO7A PRPH2 RHO RPE65
11 nephronophthisis 3 29.9 ACO2 NRL
12 cancer-associated retinopathy 29.8 RHO TULP1
13 leber congenital amaurosis 29.7 ABCA4 CRB1 MFRP MYO7A NR2E3 NRL
14 retinal disease 29.5 ABCA4 CRB1 MYO7A NRL PDE6B PRPH2
15 fundus dystrophy 29.1 ABCA4 C1QTNF5 CRB1 MFRP MYO7A NR2E3
16 late-onset retinal degeneration 12.6
17 infantile cerebellar-retinal degeneration 12.6
18 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.3
19 lattice degeneration of retina leading to retinal detachment 12.2
20 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration 12.1
21 cobblestone retinal degeneration 12.1
22 senile reticular retinal degeneration 12.1
23 cystoid macular retinal degeneration 12.1
24 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies 12.0
25 retinal degeneration and epilepsy 12.0
26 retinitis pigmentosa 27 12.0
27 spastic paraplegia 15, autosomal recessive 12.0
28 spinocerebellar ataxia 7 11.9
29 spastic paraplegia 15 11.9
30 oliver-mcfarlane syndrome 11.8
31 doyne honeycomb retinal dystrophy 11.5
32 blessig's cysts 11.5
33 enhanced s-cone syndrome 11.4
34 leber congenital amaurosis 4 11.3
35 kearns-sayre syndrome 11.3
36 retinitis pigmentosa 41 11.3
37 aceruloplasminemia 11.3
38 bardet-biedl syndrome 2 11.3
39 choroideremia 11.2
40 vitreoretinopathy, neovascular inflammatory 11.2
41 autoimmune retinopathy 11.2
42 pseudoretinitis pigmentosa 11.2
43 retinal lattice degeneration 11.2
44 neurodegeneration with brain iron accumulation 11.1
45 abetalipoproteinemia 11.0
46 spondylometaphyseal dysplasia, axial 11.0
47 kuhnt-junius degeneration 11.0
48 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.9
49 spinocerebellar ataxia 1 10.9
50 pigmented paravenous chorioretinal atrophy 10.9

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 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 434)
# 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 2,Phase 3,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
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 124-94-7 31307
6
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 1177-87-3
7
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-02-2 5743
8
Temazepam Approved, Investigational Phase 4,Phase 3,Not Applicable 846-50-4 5391
9
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 67-73-2 6215
10
Nepafenac Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 78281-72-8 151075
11
Povidone-iodine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 25655-41-8
12
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Not Applicable 137-58-6 3676
13
Diclofenac Approved, Vet_approved Phase 4,Phase 1,Not Applicable 15307-86-5 3033
14
Tocopherol Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 1406-66-2 14986
15
Dopamine Approved Phase 4,Phase 2,Phase 1,Not Applicable 51-61-6, 62-31-7 681
16
Bromocriptine Approved, Investigational Phase 4,Phase 1,Phase 2 25614-03-3 31101
17
Pramipexole Approved, Investigational Phase 4 104632-26-0 119570 59868
18
Ketorolac Approved Phase 4,Phase 2,Phase 3,Not Applicable 66635-83-4, 74103-06-3 3826
19
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
20
Benzocaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 94-09-7, 1994-09-7 2337
21 tannic acid Approved Phase 4,Phase 2,Phase 3,Phase 1
22
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 83-43-2 6741
23
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2,Phase 3,Phase 1 2921-57-5
24
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 302-25-0
25
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-24-8 5755
26
Timolol Approved Phase 4,Phase 2,Phase 3,Not Applicable 26839-75-8 33624 5478
27
Bimatoprost Approved, Investigational Phase 4,Phase 2 155206-00-1 5311027
28
Latanoprost Approved, Investigational Phase 4,Phase 2 130209-82-4 5311221 5282380
29
Travoprost Approved Phase 4 157283-68-6 5282226
30
Moxifloxacin Approved, Investigational Phase 4,Not Applicable 354812-41-2, 151096-09-2 152946
31 Homatropine Approved Phase 4 87-00-3
32
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3 378-44-9 9782
33
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
34
Zinc Approved, Investigational Phase 4,Phase 3,Not Applicable 7440-66-6
35
leucovorin Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 58-05-9 6006 143
36
Methotrexate Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 59-05-2, 1959-05-2 126941
37
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 1 53-03-2 5865
38
Fluprednisolone Approved Phase 4 53-34-9
39
Difluprednate Approved Phase 4 23674-86-4 443936
40
Rasagiline Approved Phase 4 136236-51-6 3052776
41
Empagliflozin Approved Phase 4 864070-44-0
42
Glimepiride Approved Phase 4 93479-97-1 3476
43
Lutein Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 127-40-2 6433159
44
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable 59-02-9 14985
45
Vitamin C Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 50-81-7 5785 54670067
46
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 59-30-3 6037
47
Histidine Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 71-00-1 6274
48
Bromfenac Approved July 1997 Phase 4,Phase 3,Phase 2,Phase 1 91714-94-2 60726
49 Tocotrienol Investigational Phase 4,Phase 3,Phase 1,Not Applicable 6829-55-6
50
Prednisolone hemisuccinate Experimental Phase 4,Phase 2,Phase 3,Phase 1 2920-86-7

Interventional clinical trials:

(show top 50) (show all 1657)
# 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 The Endurance 1 Trial Unknown status NCT02297204 Phase 4 aflibercept 2.0 mg
14 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4 bevacizumab;bevacizumab
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 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
17 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4 bevacizumab (Sub-tenon´s injection)
18 Intraocular Cytokine in Recurrence of Polypoidal Choroidal Vasculopathy Unknown status NCT02976194 Phase 4 ranibizumab
19 Posterior Subtenon Versus Intravitreal Injection of Triamcinolone Acetonide for Treatment of Uveitic Cystoid Macular Edema Unknown status NCT02598869 Phase 4 Triamcinolone Acetonide
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 Head to Head Study of Anti-VEGF Treatment. Completed NCT02577107 Phase 4 ranibizumab;Conbercept
36 VITAL - Individualising Therapy for Neovascular AMD With Aflibercept Completed NCT02441816 Phase 4 Aflibercept
37 Intravitreal Aflibercept in Neovascular AMD With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
38 Japanese Treat and Extend Study of Aflibercept in Neovascular Age-related Macular Degeneration Completed NCT02305238 Phase 4 Aflibercept (Eylea, VEGF Trap-Eye, BAY86-5321)
39 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
40 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
41 Safety and Efficacy of Switching From Aflibercept to Ranibizumab in Patients With nAMD Completed NCT02161575 Phase 4 Ranibizumab
42 Plasma Levels of Vascular Endothelial Growth Factor Before and After Intravitreal Injection of Aflibercept Completed NCT02125864 Phase 4 Aflibercept
43 Pilot Study of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4 Ketorolac + Ranibizumab;Ranibizumab
44 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
45 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
46 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
47 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
48 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4 Aflibercept
49 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
50 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)

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
Retina, Eye, Bone, Liver, Bone Marrow, Brain, Kidney

Publications for Retinal Degeneration

Articles related to Retinal Degeneration:

(show top 50) (show all 1197)
# Title Authors Year
1
Testing for Known Retinal Degeneration Mutants in Mouse Strains. ( 30324435 )
2019
2
Light Damage Models of Retinal Degeneration. ( 30324444 )
2019
3
Generation and Analysis of Xenopus laevis Models of Retinal Degeneration Using CRISPR/Cas9. ( 30324446 )
2019
4
The potential of small molecule brain-derived neurotrophic factor: mimetics to treat inherited retinal degeneration. ( 30531081 )
2019
5
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
6
A novel small molecule chaperone of rod opsin and its potential therapy for retinal degeneration. ( 29773803 )
2018
7
Inhibition of non-NMDA ionotropic glutamate receptors delays the retinal degeneration in rd10 mouse. ( 29940208 )
2018
8
Sheets of human retinal progenitor transplants improve vision in rats with severe retinal degeneration. ( 29782826 )
2018
9
Anti-TRPM1 antibodies in patients with retinal degeneration. ( 29927037 )
2018
10
Chemical shift assignments of retinal degeneration 3 protein (RD3). ( 29327102 )
2018
11
Xanthohumol Protects Morphology and Function in a Mouse Model of Retinal Degeneration. ( 29305606 )
2018
12
Novel Animal Model of Crumbs-Dependent Progressive Retinal Degeneration That Targets Specific Cone Subtypes. ( 29368007 )
2018
13
Reprogramming the metabolome rescues retinal degeneration. ( 29332245 )
2018
14
High-resolution Imaging in Male Germ Cell-Associated Kinase (MAK)-related Retinal Degeneration. ( 29103961 )
2018
15
Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency. ( 29916295 )
2018
16
Alpha-1 Antitrypsin Attenuates M1 Microglia-Mediated Neuroinflammation in Retinal Degeneration. ( 29899745 )
2018
17
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration. ( 29343940 )
2018
18
SOCS3 deficiency in myeloid cells promotes retinal degeneration and angiogenesis through arginase-1 up-regulation in experimental autoimmune uveoretinitis. ( 29452101 )
2018
19
The neuroprotective and antioxidative effects of submicron and blended Lycium barbarum in experimental retinal degeneration in rats. ( 29760314 )
2018
20
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. ( 29978320 )
2018
21
Reduced Disc Shedding and Phagocytosis of Photoreceptor Outer Segment Contributes to Kava Kava Extract-induced Retinal Degeneration in F344/N Rats. ( 29806545 )
2018
22
Inhibiting autophagy reduces retinal degeneration caused by protein misfolding. ( 29940785 )
2018
23
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. ( 29674119 )
2018
24
Expression Profiling Analysis Reveals Key MicroRNA-mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa. ( 29847644 )
2018
25
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. ( 29271569 )
2018
26
Adenosine A1 receptor: A neuroprotective target in light induced retinal degeneration. ( 29912966 )
2018
27
Long non-coding RNA MEG3 silencing protects against light-induced retinal degeneration. ( 29409883 )
2018
28
Author Correction: Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29511293 )
2018
29
Cell Death Pathways in Mutant Rhodopsin Rat Models Identifies Genotype-Specific Targets Controlling Retinal Degeneration. ( 29911255 )
2018
30
Antagonistic regulation of trafficking to<i>Caenorhabditis elegans</i>sensory cilia by a<i>Retinal Degeneration 3</i>homolog and retromer. ( 29282322 )
2018
31
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
32
Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29352199 )
2018
33
Rasagiline delays retinal degeneration in a mouse model of retinitis pigmentosa via modulation of Bax/Bcl-2 expression. ( 29372592 )
2018
34
Retinal degeneration mutation in Sftpa1tm1Kor/J and Sftpd -/- targeted mice. ( 29969487 )
2018
35
A model to study complement involvement in experimental retinal degeneration. ( 29436895 )
2018
36
IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration. ( 29923190 )
2018
37
Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene. ( 29942180 )
2018
38
Bilateral rhegmatogenous retinal detachment due to unusual retinal degeneration in Down syndrome: A case report. ( 29851814 )
2018
39
Retinal Degeneration in Choroideremia follows an Exponential Decay Function. ( 29580667 )
2018
40
Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage. ( 30042155 )
2018
41
Neurodegeneration in the olfactory bulb and olfactory deficits in the Ccdc66 -/- mouse model for retinal degeneration. ( 30211337 )
2018
42
17β-estradiol ameliorates oxidative stress and blue light-emitting diode-induced retinal degeneration by decreasing apoptosis and enhancing autophagy. ( 30233136 )
2018
43
Protective effects of autophagy against blue light-induced retinal degeneration in aged mice. ( 30238280 )
2018
44
IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration. ( 30242358 )
2018
45
Protective role of endogenous PACAP in inflammation-induced retinal degeneration. ( 30246634 )
2018
46
Functional characterization of the three Drosophila retinal degeneration C (RDGC) protein phosphatase isoforms. ( 30265717 )
2018
47
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. ( 30285110 )
2018
48
The expression of adenosine receptors changes throughout light induced retinal degeneration in the rat. ( 30291879 )
2018
49
Atypical Expression and Activation of GluN2A- and GluN2B-Containing NMDA Receptors at Ganglion Cells during Retinal Degeneration. ( 30312782 )
2018
50
A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration. ( 30332642 )
2018

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.1124+11C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199473709 GRCh37 Chromosome 11, 119214515: 119214515
2 C1QTNF5; MFRP NM_031433.3(MFRP): c.1124+11C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199473709 GRCh38 Chromosome 11, 119343805: 119343805
3 C1QTNF5; MFRP NM_031433.3(MFRP): c.55-17_55-15dupGTA duplication Likely benign rs143351376 GRCh37 Chromosome 11, 119217099: 119217101
4 C1QTNF5; MFRP NM_031433.3(MFRP): c.55-17_55-15dupGTA duplication Likely benign rs143351376 GRCh38 Chromosome 11, 119346389: 119346391
5 C1QTNF5; MFRP NM_031433.3(MFRP): c.492C> T (p.Tyr164=) single nucleotide variant Benign/Likely benign rs36015759 GRCh38 Chromosome 11, 119345569: 119345569
6 C1QTNF5; MFRP NM_031433.3(MFRP): c.492C> T (p.Tyr164=) single nucleotide variant Benign/Likely benign rs36015759 GRCh37 Chromosome 11, 119216279: 119216279
7 C1QTNF5; MFRP NM_031433.3(MFRP): c.406G> A (p.Val136Met) single nucleotide variant Benign/Likely benign rs3814762 GRCh37 Chromosome 11, 119216504: 119216504
8 C1QTNF5; MFRP NM_031433.3(MFRP): c.406G> A (p.Val136Met) single nucleotide variant Benign/Likely benign rs3814762 GRCh38 Chromosome 11, 119345794: 119345794
9 C1QTNF5; MFRP NM_031433.3(MFRP): c.629G> T (p.Gly210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150902999 GRCh37 Chromosome 11, 119216142: 119216142
10 C1QTNF5; MFRP NM_031433.3(MFRP): c.629G> T (p.Gly210Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150902999 GRCh38 Chromosome 11, 119345432: 119345432
11 C1QTNF5; MFRP NM_031433.3(MFRP): c.1014C> A (p.Ser338Arg) single nucleotide variant Uncertain significance rs145319149 GRCh37 Chromosome 11, 119214636: 119214636
12 C1QTNF5; MFRP NM_031433.3(MFRP): c.1014C> A (p.Ser338Arg) single nucleotide variant Uncertain significance rs145319149 GRCh38 Chromosome 11, 119343926: 119343926
13 C1QTNF5; MFRP NM_031433.3(MFRP): c.540T> C (p.His180=) single nucleotide variant Benign/Likely benign rs2510143 GRCh37 Chromosome 11, 119216231: 119216231
14 C1QTNF5; MFRP NM_031433.3(MFRP): c.540T> C (p.His180=) single nucleotide variant Benign/Likely benign rs2510143 GRCh38 Chromosome 11, 119345521: 119345521
15 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1002G> A single nucleotide variant Benign/Likely benign rs138370910 GRCh37 Chromosome 11, 119212363: 119212363
16 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1002G> A single nucleotide variant Benign/Likely benign rs138370910 GRCh38 Chromosome 11, 119341653: 119341653
17 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2478T> C single nucleotide variant Uncertain significance rs372897338 GRCh37 Chromosome 11, 119216868: 119216868
18 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2478T> C single nucleotide variant Uncertain significance rs372897338 GRCh38 Chromosome 11, 119346158: 119346158
19 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2477C> G single nucleotide variant Benign/Likely benign rs139436396 GRCh37 Chromosome 11, 119216867: 119216867
20 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2477C> G single nucleotide variant Benign/Likely benign rs139436396 GRCh38 Chromosome 11, 119346157: 119346157
21 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2282A> G single nucleotide variant Benign/Likely benign rs4639950 GRCh37 Chromosome 11, 119216555: 119216555
22 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-2282A> G single nucleotide variant Benign/Likely benign rs4639950 GRCh38 Chromosome 11, 119345845: 119345845
23 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1867G> A single nucleotide variant Benign/Likely benign rs61736238 GRCh37 Chromosome 11, 119215586: 119215586
24 C1QTNF5; MFRP NM_015645.4(C1QTNF5): c.-1867G> A single nucleotide variant Benign/Likely benign rs61736238 GRCh38 Chromosome 11, 119344876: 119344876
25 C1QTNF5; MFRP NM_031433.3(MFRP): c.773-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs187321874 GRCh37 Chromosome 11, 119215476: 119215476
26 C1QTNF5; MFRP NM_031433.3(MFRP): c.773-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs187321874 GRCh38 Chromosome 11, 119344766: 119344766
27 C1QTNF5; MFRP NM_031433.3(MFRP): c.1387+3G> A single nucleotide variant Benign/Likely benign rs11217241 GRCh38 Chromosome 11, 119342593: 119342593
28 C1QTNF5; MFRP NM_031433.3(MFRP): c.1387+3G> A single nucleotide variant Benign/Likely benign rs11217241 GRCh37 Chromosome 11, 119213303: 119213303
29 C1QTNF5; MFRP NM_031433.3(MFRP): c.1374G> T (p.Leu458Phe) single nucleotide variant Likely benign rs145881139 GRCh38 Chromosome 11, 119342609: 119342609
30 C1QTNF5; MFRP NM_031433.3(MFRP): c.1374G> T (p.Leu458Phe) single nucleotide variant Likely benign rs145881139 GRCh37 Chromosome 11, 119213319: 119213319
31 C1QTNF5; MFRP NG_012235.1: g.6940C> T single nucleotide variant Uncertain significance rs138295825 GRCh37 Chromosome 11, 119215444: 119215444
32 C1QTNF5; MFRP NG_012235.1: g.6940C> T single nucleotide variant Uncertain significance rs138295825 GRCh38 Chromosome 11, 119344734: 119344734
33 C1QTNF5 NM_015645.4(C1QTNF5): c.*345G> T single nucleotide variant Uncertain significance rs551431328 GRCh37 Chromosome 11, 119209696: 119209696
34 C1QTNF5 NM_015645.4(C1QTNF5): c.*345G> T single nucleotide variant Uncertain significance rs551431328 GRCh38 Chromosome 11, 119338986: 119338986
35 C1QTNF5 NM_015645.4(C1QTNF5): c.*158C> A single nucleotide variant Uncertain significance rs886047817 GRCh37 Chromosome 11, 119209883: 119209883
36 C1QTNF5 NM_015645.4(C1QTNF5): c.*158C> A single nucleotide variant Uncertain significance rs886047817 GRCh38 Chromosome 11, 119339173: 119339173
37 C1QTNF5; MFRP NG_012235.1: g.12255T> C single nucleotide variant Uncertain significance rs779732274 GRCh37 Chromosome 11, 119210129: 119210129
38 C1QTNF5; MFRP NG_012235.1: g.12255T> C single nucleotide variant Uncertain significance rs779732274 GRCh38 Chromosome 11, 119339419: 119339419
39 C1QTNF5; MFRP NG_012235.1: g.12178C> T single nucleotide variant Uncertain significance rs371634525 GRCh37 Chromosome 11, 119210206: 119210206
40 C1QTNF5; MFRP NG_012235.1: g.12178C> T single nucleotide variant Uncertain significance rs371634525 GRCh38 Chromosome 11, 119339496: 119339496
41 C1QTNF5 NM_015645.4(C1QTNF5): c.-719C> T single nucleotide variant Uncertain significance rs886047826 GRCh37 Chromosome 11, 119212080: 119212080
42 C1QTNF5 NM_015645.4(C1QTNF5): c.-719C> T single nucleotide variant Uncertain significance rs886047826 GRCh38 Chromosome 11, 119341370: 119341370
43 C1QTNF5; MFRP NG_012235.1: g.10187G> T single nucleotide variant Uncertain significance rs752071088 GRCh37 Chromosome 11, 119212197: 119212197
44 C1QTNF5; MFRP NG_012235.1: g.10187G> T single nucleotide variant Uncertain significance rs752071088 GRCh38 Chromosome 11, 119341487: 119341487
45 C1QTNF5 NM_015645.4(C1QTNF5): c.-888C> G single nucleotide variant Uncertain significance rs886047828 GRCh37 Chromosome 11, 119212249: 119212249
46 C1QTNF5 NM_015645.4(C1QTNF5): c.-888C> G single nucleotide variant Uncertain significance rs886047828 GRCh38 Chromosome 11, 119341539: 119341539
47 C1QTNF5; MFRP NG_012235.1: g.9946G> C single nucleotide variant Uncertain significance rs886047829 GRCh37 Chromosome 11, 119212438: 119212438
48 C1QTNF5; MFRP NG_012235.1: g.9946G> C single nucleotide variant Uncertain significance rs886047829 GRCh38 Chromosome 11, 119341728: 119341728
49 C1QTNF5; MFRP NG_012235.1: g.9763C> A single nucleotide variant Uncertain significance rs202139926 GRCh37 Chromosome 11, 119212621: 119212621
50 C1QTNF5; MFRP NG_012235.1: g.9763C> A single nucleotide variant Uncertain significance rs202139926 GRCh38 Chromosome 11, 119341911: 119341911

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