MCID: RTN016
MIFTS: 56

Retinal Degeneration

Categories: Rare diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Retinal Degeneration

MalaCards integrated aliases for Retinal Degeneration:

Name: Retinal Degeneration 12 72 28 51 41 14 69
Degeneration of Retina 12
Retina Degeneration 12

Classifications:



External Ids:

Disease Ontology 12 DOID:8466
MeSH 41 D012162
NCIt 46 C34979
SNOMED-CT 64 95695004
UMLS 69 C0035304

Summaries for Retinal Degeneration

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

MalaCards based summary : Retinal Degeneration, also known as degeneration of retina, is related to late-onset retinal degeneration and peripheral retinal degeneration. 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 Dexamethasone and Diclofenac 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 : 72 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 227)
# Related Disease Score Top Affiliating Genes
1 late-onset retinal degeneration 34.4 C1QTNF5 MFRP
2 peripheral retinal degeneration 34.1 PRPH2 RPGR
3 goldmann-favre syndrome 32.6 NR2E3 NRL
4 enhanced s-cone syndrome 32.5 MFRP NR2E3 NRL
5 macular degeneration, age-related, 1 32.2 ABCA4 CRB1 MFRP PDE6B PRPH2 RHO
6 retinitis 32.1 PRPH2 RHO RPE65 RPGR
7 degeneration of macula and posterior pole 32.0 ABCA4 RHO RPE65
8 cone-rod dystrophy 2 31.4 ABCA4 ATXN7 CRB1 PRPH2 RHO RPE65
9 retinitis pigmentosa 30.6 ABCA4 CRB1 MFRP MYO7A NR2E3 NRL
10 cancer-associated retinopathy 29.8 RHO TULP1
11 stargardt disease 29.6 ABCA4 CRB1 MYO7A PRPH2 RHO RPE65
12 retinal disease 28.8 ABCA4 CRB1 MYO7A NRL PDE6B PRPH2
13 leber congenital amaurosis 28.8 ABCA4 CRB1 MFRP MYO7A NRL PDE6B
14 infantile cerebellar-retinal degeneration 12.5
15 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.2
16 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration 12.0
17 cobblestone retinal degeneration 12.0
18 senile reticular retinal degeneration 11.9
19 cystoid macular retinal degeneration 11.9
20 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies 11.9
21 retinal degeneration and epilepsy 11.9
22 retinitis pigmentosa 27 11.9
23 spastic paraplegia 15, autosomal recessive 11.8
24 spinocerebellar ataxia 7 11.8
25 oliver-mcfarlane syndrome 11.6
26 late-onset retinal degenration 11.6
27 spastic paraplegia 15 11.4
28 blessig's cysts 11.4
29 leber congenital amaurosis 4 11.2
30 retinitis pigmentosa 41 11.1
31 bardet-biedl syndrome 2 11.1
32 aceruloplasminemia 11.1
33 vitreoretinopathy, neovascular inflammatory 11.1
34 choroideremia 11.1
35 hypobetalipoproteinemia, familial, 1 11.1
36 autoimmune retinopathy 11.1
37 pseudoretinitis pigmentosa 11.0
38 abetalipoproteinemia 10.9
39 spondylometaphyseal dysplasia, axial 10.9
40 neurodegeneration with brain iron accumulation 10.9
41 kuhnt-junius degeneration 10.9
42 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.8
43 spinocerebellar ataxia 1 10.8
44 pigmented paravenous chorioretinal atrophy 10.8
45 retinopathy, pericentral pigmentary, dominant 10.8
46 spinocerebellar ataxia 2 10.8
47 spondyloepiphyseal dysplasia congenita 10.8
48 bietti crystalline corneoretinal dystrophy 10.8
49 neurodegeneration with brain iron accumulation 1 10.8
50 retinitis pigmentosa with or without skeletal anomalies 10.8

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 RPE65 RPGR TULP1 ABCA4 ATXN7 C1QTNF5
2 pigmentation MP:0001186 9.77 ABCA4 C1QTNF5 CP CRB1 MFRP MYO7A
3 vision/eye MP:0005391 9.58 RPE65 RPGR TULP1 ABCA4 ATXN7 C1QTNF5

Drugs & Therapeutics for Retinal Degeneration

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

(show top 50) (show all 417)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-02-2 5743
2
Diclofenac Approved, Vet_approved Phase 4,Phase 1 15307-86-5 3033
3
Ephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 299-42-3 9294
4
Lidocaine Approved, Vet_approved Phase 4,Phase 2 137-58-6 3676
5
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 5284549 3154
6
Verteporfin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 129497-78-5
7
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 124-94-7 31307
8
Pseudoephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 90-82-4 7028
9
Ranibizumab Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 347396-82-1 459903
10
Nepafenac Approved, Investigational Phase 4,Phase 3,Phase 2 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 216974-75-3
13
Temazepam Approved, Investigational Phase 4,Phase 3 846-50-4 5391
14
Povidone-iodine Approved Phase 4,Phase 3,Phase 2,Phase 1 25655-41-8
15
Dopamine Approved Phase 4,Phase 2,Phase 1 51-61-6, 62-31-7 681
16
Zinc Approved, Investigational Phase 4,Phase 3 7440-66-6 32051 23994
17
Methotrexate Approved Phase 4,Phase 3,Phase 1,Phase 2 1959-05-2, 59-05-2 126941
18
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
19
Bromocriptine Approved, Investigational Phase 4,Phase 1,Phase 2 25614-03-3 31101
20
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3 378-44-9 9782
21
Timolol Approved Phase 4,Phase 2,Phase 3 26839-75-8 5478 33624
22
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
23
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
24
Pramipexole Approved, Investigational Phase 4 104632-26-0 119570 59868
25
Ketorolac Approved Phase 4,Phase 2,Phase 3 74103-06-3, 66635-83-4 3826
26
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
27
Latanoprost Approved, Investigational Phase 4,Phase 2 130209-82-4 5311221 5282380
28
Benzocaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
29
Menthol Approved Phase 4 2216-51-5 16666
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
Glimepiride Approved Phase 4 93479-97-1 3476
36
Rasagiline Approved Phase 4 136236-51-6 3052776
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
Vitamin C Approved, Nutraceutical Phase 4,Phase 3 50-81-7 54670067 5785
41
Lutein Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 127-40-2 6433159
42 Tocopherol Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 1
43
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 59-30-3 6037
44
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1 59-02-9 14985
45
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 58-05-9 143 6006
46 tannic acid Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1
47
Lactitol Investigational Phase 4,Phase 3,Phase 2 585-86-4 3871
48
Bromfenac Approved July 1997 Phase 4,Phase 3,Phase 2,Phase 1 91714-94-2 60726
49
Maleic acid Experimental Phase 4 110-16-7 444266
50 triamcinolone acetonide Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 1529)

# 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 Treat and Extend Therapy Study Using Intravitreal Aflibercept for Patients Exited From Protocol VGFT-OD 0910 Unknown status NCT01961414 Phase 4 Aflibercept
4 Aflibercept (EYLEA)as Secondary or Third Line Treatment for Neovascular Age-related Macular Degeneration. Unknown status NCT01918878 Phase 4 Aflibercept (EYLEA)
5 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
6 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab;Ranibizumab;Ranibizumab
7 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)
8 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
9 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
10 The Endurance 1 Trial Unknown status NCT02297204 Phase 4 aflibercept 2.0 mg
11 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4 bevacizumab;bevacizumab
12 Combination OZURDEX® & LUCENTIS® vs. OZURDEX® Monotherapy in Incomplete-Responders With Diabetic Macular Edema Unknown status NCT02684084 Phase 4 Ozurdex;Lucentis
13 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
14 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4 bevacizumab (Sub-tenon´s injection)
15 Posterior Subtenon Versus Intravitreal Injection of Triamcinolone Acetonide for Treatment of Uveitic Cystoid Macular Edema Unknown status NCT02598869 Phase 4 Triamcinolone Acetonide
16 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
17 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
18 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
19 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Occlusion Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
20 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
21 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Unknown status NCT02055911 Phase 4 Ranibizumab
22 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4 bevacizumab and triamcinolone
23 Effect of Dexamethasone Implant in Hard Exudate Complicated With Diabetic Macular Edema Unknown status NCT02399657 Phase 4 Intravitreal dexamethasone 0.7mg implant
24 Pain Perception at Laser Treatment Completed NCT01033968 Phase 4
25 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
26 Changes of Macular Pigment and Parameters of Eyes After YAG Laser Treatment in Cases With Capsule Opacification Completed NCT03321253 Phase 4
27 Functional and Structural Outcomes in Neovascular Age-related Macular Degeneration Completed NCT02843490 Phase 4 Ranibizumab
28 Head to Head Study of Anti-VEGF Treatment. Completed NCT02577107 Phase 4 ranibizumab;Conbercept
29 Intravitreal Aflibercept in Neovascular AMD With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
30 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
31 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
32 Safety and Efficacy of Switching From Aflibercept to Ranibizumab in Patients With nAMD Completed NCT02161575 Phase 4 Ranibizumab
33 Plasma Levels of Vascular Endothelial Growth Factor Before and After Intravitreal Injection of Aflibercept Completed NCT02125864 Phase 4 Aflibercept
34 Pilot Study of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4 Ketorolac + Ranibizumab;Ranibizumab
35 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
36 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
37 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
38 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4 Aflibercept
39 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
40 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)
41 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4 aflibercept 2.0 mg
42 A 16 Week Evaluation of the Novartis Health Management Tool (HMT) in Age Related Macular Degeneration (AMD) Completed NCT01542866 Phase 4
43 FUSION Regimen: Combined Pro re Nata and Fixed Regimen Ranibizumab in Exudative Age-related Macular Degeneration Completed NCT01500915 Phase 4 Ranibizumab
44 Study EvAluating Genotypes While Using Lucentis 2 Completed NCT01464723 Phase 4 Ranibizumab
45 Efficacy of Ranibizumab Therapy With Aflibercept in Patients With Diabetic Macular Edema Completed NCT02646670 Phase 4 Ranibizumab;Aflibercept;Ranibizumab and Aflibercept;Aflibercept and ranibizumab
46 LUCAS (Lucentis Compared to Avastin Study) Completed NCT01127360 Phase 4 Bevacizumab;Ranibizumab
47 Combined Therapy in Age-Related Macular Degeneration (ARMD) Completed NCT00805649 Phase 4 dexamethasone;bevacizumab;triamcincolone
48 Dry Age-Related Macular Degeneration (AMD) Treatment With Rheopheresis Trial Completed NCT00751361 Phase 4
49 VEGF-antagonism and Endothelial Function in Age-related Macular Degeneration (AMD) Completed NCT00727753 Phase 4 Ranibizumab;Bevacizumab
50 Combination Lucentis and Ocular Photodynamic Therapy With Visudyne, With Evaluation-based Retreatment Completed NCT00680498 Phase 4 Ranibizumab;Ranibizumab plus Photodynamic therapy

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 28

Anatomical Context for Retinal Degeneration

MalaCards organs/tissues related to Retinal Degeneration:

38
Eye, Retina, Endothelial, Bone, Testes, Bone Marrow, Skin

Publications for Retinal Degeneration

Articles related to Retinal Degeneration:

(show top 50) (show all 851)
# Title Authors Year
1
Chemical shift assignments of retinal degeneration 3 protein (RD3). ( 29327102 )
2018
2
Novel Animal Model of Crumbs-Dependent Progressive Retinal Degeneration That Targets Specific Cone Subtypes. ( 29368007 )
2018
3
A model to study complement involvement in experimental retinal degeneration. ( 29436895 )
2018
4
Xanthohumol Protects Morphology and Function in a Mouse Model of Retinal Degeneration. ( 29305606 )
2018
5
Antagonistic regulation of trafficking to<i>Caenorhabditis elegans</i>sensory cilia by a<i>Retinal Degeneration 3</i>homolog and retromer. ( 29282322 )
2018
6
SOCS3 deficiency in myeloid cells promotes retinal degeneration and angiogenesis through arginase-1 up-regulation in experimental autoimmune uveoretinitis. ( 29452101 )
2018
7
Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29352199 )
2018
8
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration. ( 29343940 )
2018
9
Reprogramming the metabolome rescues retinal degeneration. ( 29332245 )
2018
10
Rasagiline delays retinal degeneration in a mouse model of retinitis pigmentosa via modulation of Bax/Bcl-2 expression. ( 29372592 )
2018
11
High-resolution Imaging in Male Germ Cell-Associated Kinase (MAK)-related Retinal Degeneration. ( 29103961 )
2018
12
Long non-coding RNA MEG3 silencing protects against light-induced retinal degeneration. ( 29409883 )
2018
13
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. ( 29271569 )
2018
14
HIF-1I+ stabilization reduces retinal degeneration in a mouse model of retinitis pigmentosa. ( 29295858 )
2018
15
Cofactors associated with Sudden Acquired Retinal Degeneration Syndrome: 151 dogs within a reference population. ( 28845542 )
2017
16
Permissive role for mGlu1 metabotropic glutamate receptors in excitotoxic retinal degeneration. ( 28918254 )
2017
17
Retinal degeneration in progressive supranuclear palsy measured by optical coherence tomography and scanning laser polarimetry. ( 28706282 )
2017
18
Protective effect of sulforaphane against retinal degeneration in the Pde6(rd10) mouse model of retinitis pigmentosa. ( 28937835 )
2017
19
Lipid radicals cause light-induced retinal degeneration. ( 28930310 )
2017
20
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration. ( 28542676 )
2017
21
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. ( 28285769 )
2017
22
iPSC-Derived Retina Transplants Improve Vision in rd1 End-Stage Retinal-Degeneration Mice. ( 28076757 )
2017
23
Adult human periodontal ligament-derived stem cells delay retinal degeneration and maintain retinal function in RCS rats. ( 29273085 )
2017
24
Photobiomodulation with 670A nm light ameliorates MA1ller cell-mediated activation of microglia and macrophages in retinal degeneration. ( 28888911 )
2017
25
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent. ( 28945494 )
2017
26
Primary visual cortical remapping in patients with inherited peripheral retinal degeneration. ( 28116235 )
2017
27
Localized retinal degeneration secondary to WaldenstrAPm's macroglobulinemia. ( 29118506 )
2017
28
The Comparative Efficiency of Intraperitoneal and Intravitreous Injection of Hydrogen Rich Saline against N-Methyl-N-Nitrosourea Induced Retinal Degeneration: A Topographic Study. ( 28900397 )
2017
29
Cataract surgery in patients with late-onset retinal degeneration. ( 28917403 )
2017
30
Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. ( 28837078 )
2017
31
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration. ( 28939808 )
2017
32
<i>Drosophila melanogaster White</i> Mutant<i>w</i><sup> <i>1118</i> </sup>Undergo Retinal Degeneration. ( 29354028 )
2017
33
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease. ( 28355279 )
2017
34
Transgenic Mice Over-Expressing RBP4 Have RBP4-Dependent and Light-Independent Retinal Degeneration. ( 28813718 )
2017
35
Microglia Polarization with M1/M2 Phenotype Changes in rd1 Mouse Model of Retinal Degeneration. ( 28928639 )
2017
36
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
37
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. ( 28054582 )
2017
38
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. ( 28132693 )
2017
39
Human ESC-derived retinal epithelial cell sheets potentiate rescue of photoreceptor cell loss in rats with retinal degeneration. ( 29263231 )
2017
40
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. ( 28144890 )
2017
41
Glucocorticoid-Induced Leucine Zipper Protects the Retina From Light-Induced Retinal Degeneration by Inducing Bcl-xL in Rats. ( 28728173 )
2017
42
Restoring vision in mice with retinal degeneration using multicharacteristic opsin. ( 28840163 )
2017
43
Restoring vision in mice with retinal degeneration using multicharacteristic opsin. ( 28948190 )
2017
44
Nestin Expression in the Adult Mouse Retina with Pharmaceutically Induced Retinal Degeneration. ( 28049248 )
2017
45
Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature. ( 28885867 )
2017
46
IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. ( 28460050 )
2017
47
miR-25 Mediates Retinal Degeneration Via Inhibiting ITGAV and PEDF in Rat. ( 29210651 )
2017
48
Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration. ( 28410364 )
2017
49
Cytochrome b5 protects photoreceptors from light stress-induced lipid peroxidation and retinal degeneration. ( 29214051 )
2017
50
Human umbilical cord mesenchymal stem cells: subpopulations and their difference in cell biology and effects on retinal degeneration in RCS rats. ( 29210653 )
2017

Variations for Retinal Degeneration

ClinVar genetic disease variations for Retinal Degeneration:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPE65 NM_000329.2(RPE65): c.1338+1G> A single nucleotide variant Pathogenic rs1057518922 GRCh38 Chromosome 1, 68431281: 68431281

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 9.69 ABCA4 RHO RPE65
3 photoreceptor cell maintenance GO:0045494 9.67 ABCA4 RHO TULP1
4 phototransduction GO:0007602 9.63 NR2E3 PITPNM1 RHO
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.61 PDE6B PPEF1 RHO
6 response to light stimulus GO:0009416 9.56 RHO RPE65
7 retina development in camera-type eye GO:0060041 9.56 MFRP NR2E3 PDE6B PRPH2 RD3 RHO
8 detection of light stimulus involved in visual perception GO:0050908 9.55 RPE65 TULP1
9 eye photoreceptor cell development GO:0042462 9.55 CRB1 MFRP MYO7A NR2E3 TULP1
10 sensory perception of light stimulus GO:0050953 9.54 MYO7A RHO
11 rhodopsin mediated signaling pathway GO:0016056 9.52 PDE6B RHO
12 phototransduction, visible light GO:0007603 9.5 ABCA4 PDE6B RHO
13 detection of light stimulus GO:0009583 9.48 PDE6B RHO
14 visual perception GO:0007601 9.44 ABCA4 ATXN7 MFRP MYO7A NR2E3 NRL
15 regulation of rhodopsin gene expression GO:0007468 9.4 NRL RPE65
16 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 9.16 PITPNM1 RPE65
2 phosphatidylinositol transporter activity GO:0008526 8.96 PITPNM1 PITPNM2
3 phospholipid transporter activity GO:0005548 8.8 ABCA4 PITPNM1 PITPNM2

Sources for Retinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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