MCID: RTN016
MIFTS: 54

Retinal Degeneration malady

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinal Degeneration

Aliases & Descriptions for Retinal Degeneration:

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

Classifications:



External Ids:

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

Summaries for Retinal Degeneration

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

MalaCards based summary : Retinal Degeneration, also known as degeneration of retina, is related to blessig's cysts and infantile cerebellar-retinal degeneration. An important gene associated with Retinal Degeneration is PRPH2 (Peripherin 2), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. The drugs Dexamethasone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone, and related phenotypes are nervous system and cardiovascular system

Related Diseases for Retinal Degeneration

Diseases in the Retinal Degeneration family:

Retinal Degeneration, Late-Onset, Autosomal Dominant

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

(show top 50) (show all 173)
id Related Disease Score Top Affiliating Genes
1 blessig's cysts 31.8 PRPH2 ROM1 RPGR
2 infantile cerebellar-retinal degeneration 12.3
3 retinal degeneration, late-onset, autosomal dominant 12.2
4 retinal degeneration autosomal recessive clumped pigment type 12.1
5 peripheral retinal degeneration 12.1
6 doyne honeycomb degeneration of retina 12.1
7 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 12.0
8 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 11.9
9 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration 11.8
10 cobblestone retinal degeneration 11.8
11 senile reticular retinal degeneration 11.8
12 cystoid macular retinal degeneration 11.8
13 spinocerebellar ataxia 7 11.5
14 spastic paraplegia 15, autosomal recessive 11.5
15 oliver-mcfarlane syndrome 11.5
16 macular degeneration, age-related, 1 11.3
17 retinitis pigmentosa 11.2
18 cerebellar ataxia 11.0
19 enhanced s-cone syndrome 11.0
20 goldmann-favre syndrome 11.0
21 cone-rod dystrophy 11.0
22 spastic paraplegia 15 11.0
23 hypobetalipoproteinemia 11.0
24 choroideremia 11.0
25 autoimmune retinopathy 11.0
26 retinitis 11.0
27 retinitis pigmentosa 41 10.9
28 pseudoretinitis pigmentosa 10.9
29 neurodegeneration with brain iron accumulation 10.9
30 degeneration of macula and posterior pole 10.9
31 abetalipoproteinemia 10.8
32 kuhnt-junius degeneration 10.8
33 pigmented paravenous chorioretinal atrophy 10.7
34 retinitis pigmentosa 67 10.7
35 bietti crystalline corneoretinal dystrophy 10.7
36 spinocerebellar ataxia 1 10.7
37 joubert syndrome 21 10.7
38 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.7
39 vitreoretinopathy, neovascular inflammatory 10.7
40 nephronophthisis 15 10.7
41 spinocerebellar ataxia 2 10.7
42 leber congenital amaurosis 4 10.7
43 mucolipidosis iv 10.7
44 neurodegeneration with brain iron accumulation 1 10.7
45 ceroid lipofuscinosis, neuronal, 4, parry type 10.7
46 nephronophthisis-like nephropathy 1 10.7
47 retinitis pigmentosa 3 10.7
48 17-beta-hydroxysteroid dehydrogenase x deficiency 10.7
49 sed congenita 10.7
50 dominant pericentral pigmentary retinopathy 10.7

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



Diseases related to Retinal Degeneration

Symptoms & Phenotypes for Retinal Degeneration

MGI Mouse Phenotypes related to Retinal Degeneration:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 ABCA4 ATXN7 C1QTNF5 CRB1 CRX GDNF
2 cardiovascular system MP:0005385 9.96 C1QTNF5 CRX GDNF PDE6B PRPH2 RHO
3 pigmentation MP:0001186 9.77 CRX MFRP MYO7A NRL PDE6B PRPH2
4 vision/eye MP:0005391 9.58 ABCA4 ATXN7 C1QTNF5 CRB1 CRX MFRP

Drugs & Therapeutics for Retinal Degeneration

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

(show top 50) (show all 431)
id 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
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
3
Diclofenac Approved, Vet_approved Phase 4,Phase 1 15307-86-5 3033
4
Ephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 299-42-3 9294
5
Lidocaine Approved, Vet_approved Phase 4,Phase 2 137-58-6 3676
6
Norgestimate Approved Phase 4 35189-28-7 6540478
7
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 3154 5284549
8
Verteporfin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 129497-78-5
9
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 124-94-7 31307
10
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
11
Pseudoephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 90-82-4 7028
12
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 347396-82-1 459903
13
Nepafenac Approved Phase 4,Phase 3,Phase 2 78281-72-8 151075
14
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
15
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 67-73-2 6215
16
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
17
Temazepam Approved Phase 4,Phase 3 846-50-4 5391
18
Povidone-iodine Approved Phase 4,Phase 3,Phase 2,Phase 1 25655-41-8
19
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
20
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
21
Methotrexate Approved Phase 4,Phase 3,Phase 1,Phase 2 1959-05-2, 59-05-2 126941
22
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
23
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
24
Copper Approved Phase 4 15158-11-9, 7440-50-8 27099
25
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3 378-44-9 9782
26
Timolol Approved Phase 4,Phase 2,Phase 3 26839-75-8 33624 5478
27
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-24-8 5755
28
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
29
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
30
Ketorolac Approved Phase 4,Phase 2,Phase 3 74103-06-3, 66635-83-4 3826
31
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
32
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
33
Menthol Approved Phase 4 2216-51-5 16666
34
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
35
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 83-43-2 6741
36
Difluprednate Approved Phase 4 23674-86-4 443936
37
Travoprost Approved Phase 4 157283-68-6 5282226
38
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
39
Glimepiride Approved Phase 4 93479-97-1 3476
40
Spironolactone Approved Phase 4,Phase 2,Phase 3 1952-01-7, 52-01-7 5833
41
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 150310 443872
42
Rasagiline Approved Phase 4 136236-51-6 3052776
43
alemtuzumab Approved, Investigational Phase 4 216503-57-0
44
Empagliflozin Approved Phase 4 864070-44-0
45
Vitamin C Approved, Nutraceutical Phase 4,Phase 3 50-81-7 5785 54670067
46
Lutein Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 127-40-2 6433159 5368396
47
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 59-30-3 6037
48
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1 59-02-9 14985
49
Choline Approved, Nutraceutical Phase 4,Phase 2 62-49-7 305
50
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 11103-57-4, 68-26-8 445354

Interventional clinical trials:

(show top 50) (show all 1544)
id Name Status NCT ID Phase
1 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4
2 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4
3 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
4 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
5 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
6 The Endurance 1 Trial Unknown status NCT02297204 Phase 4
7 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4
8 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4
9 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
10 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4
11 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4
12 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Unknown status NCT02055911 Phase 4
13 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4
14 Effect of Dexamethasone Implant in Hard Exudate Complicated With Diabetic Macular Edema Unknown status NCT02399657 Phase 4
15 Dosage Study for Vigamox Eye Drops Prior to Intravitreal Injections Unknown status NCT00690313 Phase 4
16 Pain Perception at Laser Treatment Completed NCT01033968 Phase 4
17 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
18 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4
19 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
20 FUSION Regimen: Combined Pro re Nata and Fixed Regimen Ranibizumab in Exudative Age-related Macular Degeneration Completed NCT01500915 Phase 4
21 Combination Lucentis and Ocular Photodynamic Therapy With Visudyne, With Evaluation-based Retreatment Completed NCT00680498 Phase 4
22 Intravitreal Aflibercept in Neovascular AMD With Limited Response to Ranibizumab Completed NCT02309281 Phase 4
23 A 16 Week Evaluation of the Novartis Health Management Tool (HMT) in Age Related Macular Degeneration (AMD) Completed NCT01542866 Phase 4
24 Plasma Levels of Vascular Endothelial Growth Factor Before and After Intravitreal Injection of Aflibercept Completed NCT02125864 Phase 4
25 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
26 Study EvAluating Genotypes While Using Lucentis 2 Completed NCT01464723 Phase 4
27 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4
28 PDT Study for Exudative AMD With PCV Completed NCT00331435 Phase 4
29 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
30 VEGF-antagonism and Endothelial Function in Age-related Macular Degeneration (AMD) Completed NCT00727753 Phase 4
31 A Long-Term Monitoring Study of the IMT-002 Patients Completed NCT00976235 Phase 4
32 Dry Age-Related Macular Degeneration (AMD) Treatment With Rheopheresis Trial Completed NCT00751361 Phase 4
33 Evaluation Of Safety And Efficacy Of 0.3 Mg/Eye Macugen In Patients With Small Age-Related Macular Degeneration Lesions Completed NCT00324116 Phase 4
34 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4
35 Pilot Study of Ranibizumab With and Without Ketorolac Eyedrops for Exudative Age-related Macular Degeneration Completed NCT02060604 Phase 4
36 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
37 Combined Therapy in Age-Related Macular Degeneration (ARMD) Completed NCT00805649 Phase 4
38 LUCAS (Lucentis Compared to Avastin Study) Completed NCT01127360 Phase 4
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
40 Head to Head Study of Anti-VEGF Treatment. Completed NCT02577107 Phase 4
41 Efficacy of Ranibizumab Therapy With Aflibercept in Patients With Diabetic Macular Edema Completed NCT02646670 Phase 4
42 Extension Study to Compare Long-term Efficacy and Safety of Ranibizumab Intravitreal Injections Versus Dexamethasone Intravitreal Implant in Patients With RVO Completed NCT01580020 Phase 4
43 Size Progression of Macular Degeneration After Cataract Surgery Completed NCT01165801 Phase 4
44 Visual Outcome in Patients With Symptomatic Macular PCV Treated With Either Ranibizumab as Monotherapy or Combined With Verteporfin Photodynamic Therapy. Completed NCT01846273 Phase 4
45 Long-Term Efficacy & Safety of Aflibercept IVT for the Treatment of DME in Subjects Who Completed the VISTA-DME Trial Completed NCT02299336 Phase 4
46 Effect of Intravitreal VEGF-Trap Eye on Polypoidal Choroidal Vasculopathy Completed NCT01950741 Phase 4
47 Study to Investigate the Safety and Efficacy of Ranibizumab in Patients With Choroidal Neovascularisation Due to Causes Other Than Age Related Macular Degeneration Completed NCT01628354 Phase 4
48 Intravitreal Ranibizumab in Retinal Pigment Epithelial Detachments Completed NCT00976222 Phase 4
49 Efficacy and Safety of Lucentis® (Ranibizumab Intravitreal Injections) in Chilean Patients With Diabetic Macular Edema. Completed NCT02140411 Phase 4
50 Wet AMD Recurrence Rate in Patients Stable on Three Month Ranibizumab Dosing Completed NCT01453920 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:

id Genetic test Affiliating Genes
1 Retinal Degeneration 29

Anatomical Context for Retinal Degeneration

MalaCards organs/tissues related to Retinal Degeneration:

39
Retina, Eye, Bone, Bone Marrow, Brain, Cortex, Pituitary

Publications for Retinal Degeneration

Articles related to Retinal Degeneration:

(show top 50) (show all 803)
id Title Authors Year
1
Nestin Expression in the Adult Mouse Retina with Pharmaceutically Induced Retinal Degeneration. ( 28049248 )
2017
2
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. ( 28054582 )
2017
3
iPSC-Derived Retina Transplants Improve Vision in rd1 End-Stage Retinal-Degeneration Mice. ( 28076757 )
2017
4
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. ( 28285769 )
2017
5
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease. ( 28355279 )
2017
6
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. ( 28132693 )
2017
7
Effect of pharmacologically induced retinal degeneration on retinal autofluorescence lifetimes in mice. ( 27777124 )
2016
8
Polysialylated Neural Cell Adhesion Molecule Protects Against Light-Induced Retinal Degeneration. ( 27661859 )
2016
9
Intravitreal implantation of TPP1-transduced stem cells delays retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis. ( 27637672 )
2016
10
Complimentary action: C1q increases ganglion cell survival in an in vitro model of retinal degeneration. ( 27609284 )
2016
11
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. ( 27798110 )
2016
12
Protective effects of sustained transscleral unoprostone delivery against retinal degeneration in S334ter rhodopsin mutant rats. ( 27753245 )
2016
13
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation. ( 27802265 )
2016
14
Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. ( 26936822 )
2016
15
Neural stem cells transplanted to the subretinal space of rd1 mice delay retinal degeneration by suppressing microglia activation. ( 27067610 )
2016
16
Correction: A Naturally-Derived Compound Schisandrin B Enhanced Light Sensation in the pde6c Zebrafish Model of Retinal Degeneration. ( 27111849 )
2016
17
The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome. ( 27186975 )
2016
18
Neuoroprotective efficacies by KUS121, a VCP modulator, on animal models of retinal degeneration. ( 27503804 )
2016
19
N-methyl-N-nitrosourea induces retinal degeneration in the rat via the inhibition of NF-I_B activation. ( 27862073 )
2016
20
NLRP3 inflammasome activation drives bystander cone photoreceptor cell death in a P23H rhodopsin model of retinal degeneration. ( 27008885 )
2016
21
Functional Study and Mapping Sites for Interaction with the Target Enzyme in Retinal Degeneration 3 (RD3) Protein. ( 27471269 )
2016
22
Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4. ( 27583828 )
2016
23
Autophagy-mediated catabolism of visual transduction proteins prevents retinal degeneration. ( 27753525 )
2016
24
Olaparib significantly delays photoreceptor loss in a model for hereditary retinal degeneration. ( 28004814 )
2016
25
Photoreceptor Transplantation in Late Stage Retinal Degeneration. ( 27116664 )
2016
26
Role of Sigma 1 Receptor in Retinal Degeneration of the Ins2Akita/+ Murine Model of Diabetic Retinopathy. ( 27206247 )
2016
27
Protective Effect of Proanthocyanidins from Sea Buckthorn (Hippophae Rhamnoides L.) Seed against Visible Light-Induced Retinal Degeneration in Vivo. ( 27144578 )
2016
28
A missense mutation in the ASRGL1 gene is involved in causing autosomal recessive retinal degeneration. ( 27106100 )
2016
29
Histone Deacetylase: Therapeutic Targets in Retinal Degeneration. ( 26427446 )
2016
30
PINK1 and Parkin cooperatively protect neurons against constitutively active TRP channel-induced retinal degeneration in Drosophila. ( 27054334 )
2016
31
Intravitreal Administration of Human Bone Marrow CD34+ Stem Cells in a Murine Model of Retinal Degeneration. ( 27537262 )
2016
32
Targeting iodothyronine deiodinases locally in the retina is a therapeutic strategy for retinal degeneration. ( 27623928 )
2016
33
Amyloid beta deposition and phosphorylated tau accumulation are key features in aged choroidal vessels in the complement factor H knock out model of retinal degeneration. ( 27181225 )
2016
34
microRNA regulatory circuits in a mouse model of inherited retinal degeneration. ( 27527066 )
2016
35
Alteration of Neurotrophic Factors After Transplantation of Bone Marrow Derived Lin-ve Stem Cell in NMDA-Induced Mouse Model of Retinal Degeneration. ( 27935095 )
2016
36
Persistent inflammatory state after photoreceptor loss in an animal model of retinal degeneration. ( 27624537 )
2016
37
Retinal Changes in an ATP-Induced Model of Retinal Degeneration. ( 27199678 )
2016
38
Progesterone Attenuates Microglial-Driven Retinal Degeneration and Stimulates Protective Fractalkine-CX3CR1 Signaling. ( 27814376 )
2016
39
FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. ( 26427412 )
2016
40
Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration. ( 27017229 )
2016
41
Emerging therapies for inherited retinal degeneration. ( 27928030 )
2016
42
Cyanidin-3-glucoside and its phenolic acid metabolites attenuate visible light-induced retinal degeneration in vivo via activation of Nrf2/HO-1 pathway and NF-I_B suppression. ( 26991594 )
2016
43
Changes in ganglion cells during retinal degeneration. ( 27132232 )
2016
44
Gene expression changes in the retina following subretinal injection of human neural progenitor cells into a rodent model for retinal degeneration. ( 27217715 )
2016
45
Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration. ( 27841758 )
2016
46
A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds. ( 27510606 )
2016
47
Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. ( 27150101 )
2016
48
Increased Expression of Osteopontin in Retinal Degeneration Induced by Blue Light-Emitting Diode Exposure in Mice. ( 27504084 )
2016
49
Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7. ( 27654426 )
2016
50
Neuroprotection, Growth Factors and BDNF-TrkB Signalling in Retinal Degeneration. ( 27657046 )
2016

Variations for Retinal Degeneration

ClinVar genetic disease variations for Retinal Degeneration:

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

Copy number variations for Retinal Degeneration from CNVD:

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

Expression for Retinal Degeneration

Search GEO for disease gene expression data for Retinal Degeneration.

Pathways for Retinal Degeneration

GO Terms for Retinal Degeneration

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

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.62 C1QTNF5 CRB1 MFRP MYO7A
2 photoreceptor inner segment GO:0001917 9.33 MYO7A RHO TULP1
3 photoreceptor outer segment membrane GO:0042622 9.26 RHO ROM1
4 photoreceptor disc membrane GO:0097381 9.13 ABCA4 PDE6B RHO
5 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)
id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.81 ABCA4 CRX NRL PDE6B RD3 RHO
2 retinoid metabolic process GO:0001523 9.65 ABCA4 RHO RPE65
3 photoreceptor cell maintenance GO:0045494 9.63 ABCA4 RHO TULP1
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.58 PDE6B PPEF1 RHO
5 eye photoreceptor cell development GO:0042462 9.56 CRB1 MFRP MYO7A TULP1
6 response to light stimulus GO:0009416 9.55 RHO RPE65
7 detection of light stimulus involved in visual perception GO:0050908 9.54 RPE65 TULP1
8 sensory perception of light stimulus GO:0050953 9.52 MYO7A RHO
9 rhodopsin mediated signaling pathway GO:0016056 9.51 PDE6B RHO
10 phototransduction, visible light GO:0007603 9.5 ABCA4 PDE6B RHO
11 retina development in camera-type eye GO:0060041 9.5 MFRP PDE6B PRPH2 RD3 RHO RPE65
12 retina morphogenesis in camera-type eye GO:0060042 9.49 ROM1 RPE65
13 visual perception GO:0007601 9.47 ABCA4 ATXN7 CRX MFRP MYO7A NRL
14 detection of light stimulus GO:0009583 9.43 PDE6B RHO
15 regulation of rhodopsin gene expression GO:0007468 9.37 NRL RPE65

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

id Name GO ID Score Top Affiliating Genes
1 phosphatidylcholine binding GO:0031210 9.16 PITPNM1 RPE65
2 leucine zipper domain binding GO:0043522 8.96 CRX NRL
3 phosphatidylinositol transporter activity GO:0008526 8.62 PITPNM1 PITPNM2

Sources for Retinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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