MCID: RTN016
MIFTS: 53

Retinal Degeneration

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinal Degeneration

MalaCards integrated aliases for Retinal Degeneration:

Name: Retinal Degeneration 12 74 29 54 6 43 15 39 71
Degeneration of Retina 12

Classifications:



External Ids:

Disease Ontology 12 DOID:8466
MeSH 43 D012162
NCIt 49 C34979
SNOMED-CT 67 95695004
UMLS 71 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 (Retinoid Isomerohydrolase RPE65). The drugs Dorzolamide and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and brain, and related phenotypes are nervous system and pigmentation

Wikipedia : 74 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 547)
# Related Disease Score Top Affiliating Genes
1 late-onset retinal degeneration 35.7 RPE65 RHO PRPH2 MFRP CRB1 C1QTNF5
2 peripheral retinal degeneration 34.7 RHO PRPH2
3 macular degeneration, age-related, 1 34.4 RPE65 RHO PRPH2 NRL NR2E3 CRB1
4 retinitis pigmentosa 34.2 TULP1 RPE65 RHO RD3 PRPH2 NRL
5 enhanced s-cone syndrome 33.8 RPE65 RHO NRL NR2E3
6 leber plus disease 33.8 TULP1 RPE65 RHO RD3 PRPH2 NRL
7 cone-rod dystrophy 2 33.7 TULP1 RPE65 RHO RD3 PRPH2 PITPNM1
8 bardet-biedl syndrome 33.4 TULP1 RPE65 RHO PRPH2 CRB1
9 pseudoretinitis pigmentosa 33.2 TULP1 CRB1
10 leber congenital amaurosis 4 33.0 TULP1 RPE65 RD3 PRPH2 CRB1
11 retinitis 32.9 RPE65 RHO PRPH2 NRL CRB1
12 retinal disease 32.7 TULP1 RPE65 RHO PRPH2 NRL NR2E3
13 fundus dystrophy 32.7 TULP1 RPE65 RHO RD3 PRPH2 PITPNM1
14 yemenite deaf-blind hypopigmentation syndrome 32.6 RPE65 RHO CRB1
15 inherited retinal disorder 32.4 TULP1 RPE65 RHO PRPH2 NR2E3 MFRP
16 night blindness 32.2 RPE65 RHO PRPH2 NRL NR2E3
17 stargardt disease 32.1 TULP1 RPE65 RHO PRPH2 NRL NR2E3
18 eye disease 32.0 RPE65 RHO PRPH2 NRL NR2E3 CRB1
19 usher syndrome 31.9 TULP1 RPE65 RHO PRPH2 CRB1
20 achromatopsia 31.8 TULP1 RPE65 RHO RD3 PRPH2 NRL
21 congenital stationary night blindness 31.7 TULP1 RPE65 RHO PRPH2 NRL NR2E3
22 pathologic nystagmus 31.7 TULP1 RPE65 RHO CRB1
23 fundus albipunctatus 31.6 TULP1 RPE65 RHO PRPH2 NR2E3 CRB1
24 hereditary retinal dystrophy 31.6 RPE65 RHO PRPH2 CRB1
25 scotoma 31.6 RPE65 RHO CRB1
26 retinoschisis 1, x-linked, juvenile 31.6 RPE65 RHO NR2E3 CRB1
27 cone dystrophy 31.6 RPE65 RHO PRPH2
28 joubert syndrome 1 31.6 TULP1 RPE65 RHO RD3 PITPNM1 CRB1
29 gyrate atrophy of choroid and retina 31.5 RPE65 RHO PRPH2
30 senior-loken syndrome 1 31.5 TULP1 RPE65 RHO PRPH2 CRB1
31 retinitis pigmentosa 1 31.4 RHO PRPH2 NRL
32 nanophthalmos 31.3 RPE65 RHO NRL MFRP CRB1 C1QTNF5
33 leber congenital amaurosis 1 31.3 TULP1 RPE65 RHO RD3 PRPH2 CRB1
34 cancer-associated retinopathy 31.2 TULP1 RHO
35 stargardt macular degeneration 31.2 RHO PRPH2
36 leber congenital amaurosis 2 31.2 TULP1 RPE65 RHO RD3 CRB1
37 cone-rod dystrophy 6 31.1 RPE65 RD3 PRPH2 CRB1
38 leber congenital amaurosis 9 31.1 TULP1 RPE65 CRB1
39 leber congenital amaurosis 10 31.1 TULP1 RPE65 CRB1
40 keratoconus 31.0 TULP1 RPE65 RD3 CRB1
41 leber congenital amaurosis 12 31.0 RPE65 RD3
42 leber congenital amaurosis 3 30.9 TULP1 RPE65 RD3 CRB1
43 optic nerve hypoplasia, bilateral 30.9 RPE65 RHO NRL CRB1
44 leber congenital amaurosis 8 30.9 TULP1 RPE65 CRB1
45 leber congenital amaurosis 5 30.8 TULP1 RD3
46 pattern dystrophy 30.7 RHO PRPH2
47 athetosis 30.7 CP ACO2
48 usher syndrome type 2 30.7 TULP1 RPE65 RHO
49 vitreoretinochoroidopathy 30.2 RPE65 PRPH2
50 infantile cerebellar-retinal degeneration 12.8

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.97 ATXN7 C1QTNF5 CP CRB1 MFRP NR2E3
2 pigmentation MP:0001186 9.61 C1QTNF5 CP CRB1 MFRP NRL PRPH2
3 vision/eye MP:0005391 9.53 ATXN7 C1QTNF5 CP CRB1 IQCE MFRP

Drugs & Therapeutics for Retinal Degeneration

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

(show top 50) (show all 115)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
4
Pramipexole Approved, Investigational Phase 4 104632-26-0 119570 59868
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
6
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
7
Rasagiline Approved Phase 4 136236-51-6 3052776
8 Antihypertensive Agents Phase 4
9 Carbonic Anhydrase Inhibitors Phase 4
10 Dopamine Agents Phase 4
11 Cardiotonic Agents Phase 4
12 Dopamine agonists Phase 4
13 Antiparkinson Agents Phase 4
14 Sympathomimetics Phase 4
15 Antineoplastic Agents, Hormonal Phase 4
16 Antiemetics Phase 4
17 Gastrointestinal Agents Phase 4
18 BB 1101 Phase 4
19 Dexamethasone 21-phosphate Phase 4
20 Protective Agents Phase 4
21 Neuroprotective Agents Phase 4
22 Monoamine Oxidase Inhibitors Phase 4
23
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
24
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
25
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 6433159
26
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
27
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
28 Tocotrienol Investigational Phase 3 6829-55-6
29 Vitamins Phase 3
30 Retinol palmitate Phase 3
31 retinol Phase 3
32 Calciferol Phase 3
33 Trace Elements Phase 3
34 Micronutrients Phase 3
35 Nutrients Phase 3
36 Tocotrienols Phase 3
37 Tocopherols Phase 3
38
Coal tar Approved Phase 1, Phase 2 8007-45-2
39
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
40
Verteporfin Approved, Investigational Phase 2 129497-78-5
41
Methylcobalamin Approved, Investigational Phase 2 13422-55-4
42
Hydroxocobalamin Approved Phase 2 13422-51-0 15589840 11953898
43
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
44
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
45
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
46
tannic acid Approved Phase 2 1401-55-4
47
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
48
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
49
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
50
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903

Interventional clinical trials:

(show top 50) (show all 132)
# Name Status NCT ID Phase Drugs
1 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
2 Matched Pair, Assessor Blinded, Open Label Clinical Trial to Assess the Ophthalmologic Safety of Long Term Oral 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
3 Clinical and Genetic Assessment of Treatment Response in Patients With Age-related Macular Degeneration Using Intravitreal Aflibercept Injection Completed NCT02689518 Phase 4 Intravitreal aflibercept injection
4 An Open-label, Multi-center, 6-month Extension Study Comparing the Long-term Efficacy and Safety of Lucentis (Ranibizumab) Intravitreal Injections Versus Ozurdex (Dexamethasone) Intravitreal Implant in Patients With Visual Impairment Due to Macular Edema Following Branch Retinal Vein Occlusion (BRVO) or Central Retinal Vein Occlusion (CRVO) Who Have Completed the Respective Core Study (CRFB002EDE17 or CRFB002EDE18) Completed NCT01580020 Phase 4 Dexamethasone
5 Rasagiline (Azilect) - Neuroprotection for Macula-off Retinal Detachment Terminated NCT02068625 Phase 4 Rasagiline;Placebo
6 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
7 A Phase III b, Multicenter Study of the Efficacy and Safety of Aflibercept Switch in Patients With Exudative AMD With Detachment of the Retinal Pigment Epithelium and Previously Treated With Ranibizumab Intravitreal Injection. (ARI2) Completed NCT02157077 Phase 3 Aflibercept
8 A Single-Arm, Open-Label, Multicenter, Phase IIIb Study to Collect Safety and Electrocardiogram Data on Brolucizumab 6 mg Intravitreal Treatment in Patients With Neovascular Age-Related Macular Degeneration Completed NCT03954626 Phase 3
9 Randomized Clinical Trial for Retinitis Pigmentosa Completed NCT00346333 Phase 3 Lutein
10 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
11 A 64-week, Two-arm, Randomized, Double-masked, Multicenter, Phase IIIb Study Assessing the Efficacy and Safety of Brolucizumab 6 mg Compared to Aflibercept 2 mg in a Treat-to-control Regimen in Patients With Neovascular Agerelated Macular Degeneration (TALON) Recruiting NCT04005352 Phase 3
12 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Patients With Retinitis Pigmentosa Recruiting NCT01680510 Phase 2, Phase 3
13 Safety and Effectiveness, in a Multi-Center, Randomized, Sham Controlled Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD)Using Rheopheresis Suspended NCT00460967 Phase 3
14 Argus® II Retinal Stimulation System Feasibility Protocol Unknown status NCT00407602 Phase 2
15 A Safety and Feasibility Study of the TheraSight(TM) Ocular Brachytherapy System for Treatment of Age-Related Macular Degeneration Unknown status NCT00100087 Phase 1, Phase 2
16 Effectiveness and Safety of Subtenon Administration of Autologous Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration Unknown status NCT02144103 Phase 1, Phase 2
17 Stem Cell Derived Retinal Pigmented Epithelium Implantation in Patients With Outer Retinal Degenerations: Phase I/II Clinical Trial Unknown status NCT02903576 Phase 1, Phase 2
18 A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations Unknown status NCT01278277 Phase 1, Phase 2
19 An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (AAV2/2-hRPE65p-hRPE65) for Gene Therapy of Severe Early-onset Retinal Degeneration Completed NCT00643747 Phase 1, Phase 2
20 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
21 Prospective Monocentric Open Label Non Randomized Uncontrolled Phase I/II Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2 rAAV2/4.hRPE65
22 A Phase I/II Controlled Dose-escalating Trial to Establish the Baseline Safety and Efficacy of a Single Subretinal Injection of rAAV.sFlt-1 Into Eyes of Patients With Exudative Age-related Macular Degeneration (AMD) Completed NCT01494805 Phase 1, Phase 2
23 An Open Label Dose Escalation Phase 1 Clinical Trial of Retinal Gene Therapy for Choroideraemia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1) Completed NCT01461213 Phase 1, Phase 2 rAAV2.REP1
24 A Prospective Masked Pilot Study Comparing Group 1 Triple Therapy - PDT Plus IVD and Intravitreal Ranibizumab Versus Group 2 Monotherapy - Intravitreal Ranibizumab Alone. Completed NCT00390208 Phase 2 ranibizumab, dexamethasone and verteporfin;Ranibizumab
25 A Phase II Study of OT-551 Antioxidant Eye Drop in Participants With Bilateral Geographic Atrophy Associated With Age-Related Macular Degeneration Completed NCT00306488 Phase 2 OT-551 antioxidant eye drop
26 Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect Completed NCT01793090 Phase 2 Epi-743
27 Pilot Study of the Evaluation of Subconjunctival Sirolimus in the Treatment of Bilateral Geographic Atrophy Associated With Age-Related Macular Degeneration Completed NCT00766649 Phase 1, Phase 2 Sirolimus
28 Pilot Study of the Evaluation of Intravitreal Sirolimus in the Treatment of Bilateral Geographic Atrophy Associated With Age-Related Macular Degeneration Completed NCT01445548 Phase 1, Phase 2 Sirolimus
29 Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of AGN-151587 (EDIT-101) in Adult and Pediatric Participants With Leber Congenital Amaurosis Type 10 (LCA10), With Centrosomal Protein 290 (CEP290)-Related Retinal Degeneration Caused by a Compound Heterozygous or Homozygous Mutation Involving c.2991+1655A>G in Intron 26 (IVS26) of the CEP290 Gene ("LCA10-IVS26") Recruiting NCT03872479 Phase 1, Phase 2 AGN-151587
30 A Double-Masked, Placebo-Controlled, Dose Ranging Study to Evaluate the Efficacy of Oral AKST4290 With Loading Doses of Aflibercept in Patients With Newly Diagnosed Neovascular Age-Related Macular Degeneration Recruiting NCT04331730 Phase 2 AKST4290;Placebo;Aflibercept
31 A Phase 2, Prospective, Randomized, Double-masked, Active Comparator-controlled, Multi-center Study to Investigate the Efficacy and Safety of Repeated Intravitreal Administration of KSI-301 in Subjects With Neovascular (Wet) Age-related Macular Degeneration. Recruiting NCT04049266 Phase 2 KSI-301;Aflibercept
32 FocuS: An Open Label First in Human Phase 1/2 Multicentre Study to Evaluate the Safety, Dose Response and Efficacy of GT005 Administered as a Single Subretinal Injection in Subjects With Macular Atrophy Due to AMD Recruiting NCT03846193 Phase 1, Phase 2
33 A Phase 1/2a, Open-Label, Non-Randomized, Dose-Escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Recruiting NCT03326336 Phase 1, Phase 2
34 Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression Recruiting NCT03328130 Phase 1, Phase 2
35 An Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of AGTC-501 (rAAV2tYF-GRK1-RPGR) in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations Recruiting NCT03316560 Phase 1, Phase 2
36 Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein) Recruiting NCT04120883 Phase 1, Phase 2 Hydroxychloroquine lower dose;Hydroxychloroquine higher dose
37 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
38 Evaluation of Oral Minocycline in the Treatment of Geographic Atrophy Associated With Age-Related Macular Degeneration Recruiting NCT02564978 Phase 2 Minocycline
39 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing Retinoschisin (rAAV2tYF-CB-hRS1) in Patients With X-linked Retinoschisis Active, not recruiting NCT02416622 Phase 1, Phase 2
40 Efficacy of Biweekly Ranibizumab (0.5 mg) for Exudative Macular Degeneration Retinal Edema Refractory to Anti-VEGF Therapy Comparing Syringe Preparation Time Using Ranibizumab Vial and Pre-filled Syringe Active, not recruiting NCT03071055 Phase 2 Ranibizumab Injection [Lucentis]
41 THOR - Tübingen Choroideremia Gene Therapy Trial Open Label Phase 2 Clinical Trial Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1) Active, not recruiting NCT02671539 Phase 2
42 Explore: A Phase 2, Outcomes Assessor-masked, Multicentre, Randomised Study to Evaluate the Safety and Efficacy of Two Doses of GT005 Administered as a Single Subretinal Injection in Subjects With Geographic Atrophy Secondary to Age-related Macular Degeneration Not yet recruiting NCT04437368 Phase 2 GT005; Dose 1;GT005; Dose 2
43 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
44 A Randomized, Double-Masked, Placebo-Controlled, Dose- Finding, Non-Inferiority Study of X-82 Plus Prn Intravitreal (Ivt) Anti-VEGF Compared to Prn Ivt Anti-VEGF Monotherapy in Neovascular AMD Terminated NCT02348359 Phase 2 X-82;Anti-VEGF;Placebo
45 A Phase I/II Open Label, Multicenter Study of the Safety, Tolerability and Efficacy of Multiple Intravitreal Injections of (Super-dose Anti-VEgf SAVE Trial) 2.0mg Ranibizumab in Subjects With Chronic Fluid on OCT Post Multiple Injections With Ranibizumab Terminated NCT01025232 Phase 1, Phase 2 Ranibizumab
46 Pilot Phase I/II Study of the Evaluation of Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Terminated NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
47 Intravitreal Autologous Bone Marrow-derived Mesenchymal Stem Cell Transplantation in Patients With Advanced Glaucoma. Phase I: Safety Study. Completed NCT02330978 Phase 1
48 A Phase I, Double-masked, Placebo-controlled Study Evaluating The Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, And Immunogenicity Of Single Escalating Doses Of Rn6g In Patients With Dry, Age-related Macular Degeneration (Amd) Completed NCT00877032 Phase 1
49 A Phase 1, Double-Masked, Placebo-Controlled Study Evaluating The Safety, Tolerability, Immunogenicity, Pharmacokinetics, And Pharmacodynamics Of Multiple Escalating Dosages Of RN6G In Subjects With Advanced Dry, Age-Related Macular Degeneration (AMD) Including Geographic Atrophy Completed NCT01003691 Phase 1
50 A Phase I Open-Label, Dose Escalation Trial of QPI-1007 Delivered by a Single Intravitreal Injection to Patients With Optic Nerve Atrophy (Stratum I) and Acute Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION) (Stratum II) Completed NCT01064505 Phase 1 QPI-1007 at various doses

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:

40
Retina, Eye, Brain, Bone, Cortex, Testes, Bone Marrow

Publications for Retinal Degeneration

Articles related to Retinal Degeneration:

(show top 50) (show all 6402)
# Title Authors PMID Year
1
FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferase. 61 54
20356843 2010
2
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 61 54
20061330 2010
3
Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis pigmentosa. 54 61
19952284 2010
4
Deafness and retinal degeneration in a novel USH1C knock-in mouse model. 54 61
20095043 2010
5
Morphological changes of short-wavelength cones in the developing S334ter-3 transgenic rat. 61 54
20114037 2010
6
Morphological alterations in retinal neurons in the S334ter-line3 transgenic rat. 61 54
20127257 2010
7
CNTF induces regeneration of cone outer segments in a rat model of retinal degeneration. 61 54
20209167 2010
8
The dependence of retinal degeneration caused by the rhodopsin P23H mutation on light exposure and vitamin a deprivation. 54 61
19933196 2010
9
Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations. 61 54
19710705 2010
10
Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa. 54 61
20238065 2010
11
CREB1/ATF1 activation in photoreceptor degeneration and protection. 54 61
19643965 2009
12
Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. 61 54
19756182 2009
13
Light responses in rods of vitamin A-deprived Xenopus. 54 61
19407019 2009
14
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. 54 61
19459154 2009
15
Dual transgenic reporter mice as a tool for monitoring expression of glial fibrillary acidic protein. 61 54
19457099 2009
16
[Gene therapy for inherited retinal dystrophies]. 54 61
19820803 2009
17
Stable retinal gene expression in nonhuman primates via subretinal injection of SIVagm-based lentiviral vectors. 54 61
19257835 2009
18
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 54 61
19430481 2009
19
Development of lead hammerhead ribozyme candidates against human rod opsin mRNA for retinal degeneration therapy. 61 54
19094986 2009
20
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. 54 61
19074801 2009
21
Effects of pituitary adenylate cyclase activating polypeptide and its fragments on retinal degeneration induced by neonatal monosodium glutamate treatment. 61 54
19456357 2009
22
Accumulation of rhodopsin in late endosomes triggers photoreceptor cell degeneration. 61 54
19214218 2009
23
Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4. 61 54
19153612 2009
24
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein. 61 54
18826961 2009
25
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. 61 54
18665195 2009
26
Mutation of a TADR protein leads to rhodopsin and Gq-dependent retinal degeneration in Drosophila. 61 54
19074021 2008
27
Rescue of volume-regulated anion current by bestrophin mutants with altered charge selectivity. 61 54
18955594 2008
28
Restoration of visual function in retinal degeneration mice by ectopic expression of melanopsin. 54 61
18836071 2008
29
Developmental impairments of select neurotransmitter systems in brains of Cln3(Deltaex7/8) knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis. 54 61
18265413 2008
30
Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance. 54 61
18507827 2008
31
Survival and remodeling of melanopsin cells during retinal dystrophy. 54 61
18442436 2008
32
Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies. 54 61
17904189 2008
33
On the role of CNTF as a potential therapy for retinal degeneration: Dr. Jekyll or Mr. Hyde? 54 61
18188927 2008
34
Chronic intravitreous infusion of ciliary neurotrophic factor modulates electrical retinal stimulation thresholds in the RCS rat. 61 54
18172115 2008
35
A novel form of transducin-dependent retinal degeneration: accelerated retinal degeneration in the absence of rod transducin. 54 61
18055791 2007
36
Increased expression of glial cell line-derived neurotrophic factor protects against oxidative damage-induced retinal degeneration. 54 61
17935603 2007
37
Drosophila bestrophin-1 chloride current is dually regulated by calcium and cell volume. 61 54
17968025 2007
38
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. 61 54
17962469 2007
39
The rdgB gene of Drosophila: a link between vision and olfaction. 61 54
18161590 2007
40
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 54 61
17724218 2007
41
Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark. 54 61
17699662 2007
42
Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin. 61 54
17715341 2007
43
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. 54 61
17377520 2007
44
Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F. 54 61
17488458 2007
45
Prominin-2 is a cholesterol-binding protein associated with apical and basolateral plasmalemmal protrusions in polarized epithelial cells and released into urine. 61 54
17109118 2007
46
Targeted inactivation of synaptic HRG4 (UNC119) causes dysfunction in the distal photoreceptor and slow retinal degeneration, revealing a new function. 54 61
17174953 2007
47
Evidence for a molecular link between the tuberous sclerosis complex and the Crumbs complex. 61 54
17234746 2007
48
Molecular and cellular alterations induced by sustained expression of ciliary neurotrophic factor in a mouse model of retinitis pigmentosa. 54 61
17325188 2007
49
The role of anti-alpha-enolase autoantibodies in pathogenicity of autoimmune-mediated retinopathy. 61 54
17235687 2007
50
Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice. 61 54
17311087 2007

Variations for Retinal Degeneration

ClinVar genetic disease variations for Retinal Degeneration:

6 (show top 50) (show all 80) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)SNV Pathogenic 30261 rs387906836 6:35471540-35471540 6:35503763-35503763
2 IQCE NM_152558.5(IQCE):c.895_904del (p.Val301fs)deletion Pathogenic 638149 7:2625907-2625916 7:2586273-2586282
3 RPE65 NM_000329.3(RPE65):c.1338+1G>ASNV Pathogenic/Likely pathogenic 374139 rs1057518922 1:68896964-68896964 1:68431281-68431281
4 SLC6A6 NM_003043.5(SLC6A6):c.233C>A (p.Ala78Glu)SNV Likely pathogenic 870335 3:14487228-14487228 3:14445720-14445720
5 SLC6A6 NM_003043.5(SLC6A6):c.1196G>T (p.Gly399Val)SNV Likely pathogenic 870334 3:14513812-14513812 3:14472304-14472304
6 C1QTNF5 , MFRP NM_031433.4(MFRP):c.160C>G (p.Arg54Gly)SNV Conflicting interpretations of pathogenicity 196562 rs139436396 11:119216867-119216867 11:119346157-119346157
7 C1QTNF5 , MFRP NM_031433.4(MFRP):c.773-9C>TSNV Conflicting interpretations of pathogenicity 198596 rs187321874 11:119215476-119215476 11:119344766-119344766
8 C1QTNF5 , MFRP NM_031433.4(MFRP):c.195C>T (p.Phe65=)SNV Conflicting interpretations of pathogenicity 302976 rs138913508 11:119216832-119216832 11:119346122-119346122
9 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*849G>CSNV Conflicting interpretations of pathogenicity 302936 rs185696769 11:119211409-119211409 11:119340699-119340699
10 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1124+11C>GSNV Conflicting interpretations of pathogenicity 68067 rs199473709 11:119214515-119214515 11:119343805-119343805
11 C1QTNF5 , MFRP NM_031433.4(MFRP):c.629G>T (p.Gly210Val)SNV Conflicting interpretations of pathogenicity 167296 rs150902999 11:119216142-119216142 11:119345432-119345432
12 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg)SNV Conflicting interpretations of pathogenicity 167294 rs145319149 11:119214636-119214636 11:119343926-119343926
13 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-49G>ASNV Conflicting interpretations of pathogenicity 302984 rs201954533 11:119217272-119217272 11:119346562-119346562
14 C1QTNF5 , MFRP NM_031433.4(MFRP):c.191G>A (p.Arg64His)SNV Conflicting interpretations of pathogenicity 302978 rs149376662 11:119216836-119216836 11:119346126-119346126
15 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1110+9G>ASNV Conflicting interpretations of pathogenicity 302930 rs771777653 11:119210885-119210885 11:119340175-119340175
16 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*483T>CSNV Conflicting interpretations of pathogenicity 302941 rs147285871 11:119211775-119211775 11:119341065-119341065
17 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1237G>ASNV Conflicting interpretations of pathogenicity 302928 rs148291350 11:119210432-119210432 11:119339722-119339722
18 C1QTNF5 , MFRP NM_031433.4(MFRP):c.773-8A>CSNV Conflicting interpretations of pathogenicity 302966 rs143891457 11:119215475-119215475 11:119344765-119344765
19 C1QTNF5 NM_031433.4(MFRP):c.496C>G (p.Pro166Ala)SNV Conflicting interpretations of pathogenicity 302970 rs145285193 11:119216275-119216275 11:119345565-119345565
20 C1QTNF5 , MFRP NM_031433.4(MFRP):c.807G>A (p.Gln269=)SNV Conflicting interpretations of pathogenicity 302964 rs371537663 11:119215433-119215433 11:119344723-119344723
21 C1QTNF5 , MFRP NM_031433.4(MFRP):c.192C>G (p.Arg64=)SNV Conflicting interpretations of pathogenicity 302977 rs200143181 11:119216835-119216835 11:119346125-119346125
22 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-57C>TSNV Uncertain significance 302985 rs139821533 11:119217280-119217280 11:119346570-119346570
23 C1QTNF5 NM_031433.4(MFRP):c.-65G>ASNV Uncertain significance 302986 rs883246 11:119217288-119217288 11:119346578-119346578
24 C1QTNF5 , MFRP NM_031433.4(MFRP):c.786T>A (p.His262Gln)SNV Uncertain significance 302965 rs751729583 11:119215454-119215454 11:119344744-119344744
25 C1QTNF5 , MFRP NM_031433.4(MFRP):c.271+10C>TSNV Uncertain significance 302975 rs554865241 11:119216746-119216746 11:119346036-119346036
26 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1290G>ASNV Uncertain significance 302927 rs751401877 11:119210379-119210379 11:119339669-119339669
27 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1024G>ASNV Uncertain significance 302931 rs886047819 11:119210980-119210980 11:119340270-119340270
28 C1QTNF5 , MFRP NM_031433.4(MFRP):c.854-13G>ASNV Uncertain significance 302935 rs886047821 11:119211163-119211163 11:119340453-119340453
29 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*829G>ASNV Uncertain significance 302937 rs886047822 11:119211429-119211429 11:119340719-119340719
30 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*732G>TSNV Uncertain significance 302938 rs886047823 11:119211526-119211526 11:119340816-119340816
31 C1QTNF5 , MFRP NM_031433.4(MFRP):c.976-14A>CSNV Uncertain significance 302956 rs200069261 11:119214688-119214688 11:119343978-119343978
32 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*198G>CSNV Uncertain significance 302944 rs886047825 11:119212060-119212060 11:119341350-119341350
33 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1516-4G>ASNV Uncertain significance 302950 rs372014001 11:119212486-119212486 11:119341776-119341776
34 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1506C>T (p.Ser502=)SNV Uncertain significance 302951 rs773497972 11:119212576-119212576 11:119341866-119341866
35 C1QTNF5 , MFRP NM_031433.4(MFRP):c.941C>A (p.Thr314Asn)SNV Uncertain significance 302960 rs755974208 11:119215059-119215059 11:119344349-119344349
36 C1QTNF5 , MFRP NM_031433.4(MFRP):c.897G>A (p.Ser299=)SNV Uncertain significance 302962 rs150284394 11:119215343-119215343 11:119344633-119344633
37 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*652G>ASNV Uncertain significance 302940 rs886047824 11:119211606-119211606 11:119340896-119340896
38 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-108G>ASNV Uncertain significance 302988 rs143241967 11:119217331-119217331 11:119346621-119346621
39 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1879C>TSNV Uncertain significance 302920 rs886047816 11:119209790-119209790 11:119339080-119339080
40 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*126G>CSNV Uncertain significance 302946 rs886047827 11:119212132-119212132 11:119341422-119341422
41 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1475T>A (p.Ile492Asn)SNV Uncertain significance 302952 rs886047830 11:119212607-119212607 11:119341897-119341897
42 C1QTNF5 , MFRP NM_031433.4(MFRP):c.975+10G>ASNV Uncertain significance 302957 rs886047832 11:119215015-119215015 11:119344305-119344305
43 C1QTNF5 , MFRP NM_031433.4(MFRP):c.505C>T (p.His169Tyr)SNV Uncertain significance 302969 rs886047834 11:119216266-119216266 11:119345556-119345556
44 C1QTNF5 , MFRP NM_031433.4(MFRP):c.190C>T (p.Arg64Cys)SNV Uncertain significance 302979 rs147490836 11:119216837-119216837 11:119346127-119346127
45 C1QTNF5 , MFRP NM_031433.4(MFRP):c.63C>A (p.Phe21Leu)SNV Uncertain significance 302980 rs868687394 11:119217076-119217076 11:119346366-119346366
46 C1QTNF5 , MFRP NM_031433.4(MFRP):c.58G>A (p.Glu20Lys)SNV Uncertain significance 302981 rs529716845 11:119217081-119217081 11:119346371-119346371
47 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1311G>ASNV Uncertain significance 302926 rs368962202 11:119210358-119210358 11:119339648-119339648
48 C1QTNF5 , MFRP NM_031433.4(MFRP):c.796C>T (p.Arg266Cys)SNV Uncertain significance 288043 rs138295825 11:119215444-119215444 11:119344734-119344734
49 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1786C>ASNV Uncertain significance 302921 rs886047817 11:119209883-119209883 11:119339173-119339173
50 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1540T>CSNV Uncertain significance 302924 rs779732274 11:119210129-119210129 11:119339419-119339419

Copy number variations for Retinal Degeneration from CNVD:

7
# CNVD ID Chromosome 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 cell projection GO:0042995 9.73 TULP1 RHO RD3 PRPH2 IQCE C1QTNF5
2 cell body GO:0044297 9.33 RPE65 PITPNM2 PITPNM1
3 photoreceptor outer segment GO:0001750 9.26 TULP1 RHO RD3 PRPH2
4 photoreceptor inner segment GO:0001917 9.02 TULP1 RHO RD3 PRPH2 CRB1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.8 TULP1 RPE65 RHO RD3 PRPH2 NRL
2 photoreceptor cell maintenance GO:0045494 9.63 TULP1 RHO CRB1
3 phototransduction GO:0007602 9.58 RHO PITPNM1 NR2E3
4 retina development in camera-type eye GO:0060041 9.56 TULP1 RPE65 RHO RD3 PRPH2 NR2E3
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.51 RHO PPEF1
6 detection of light stimulus involved in visual perception GO:0050908 9.5 TULP1 RPE65 CRB1
7 cellular response to light stimulus GO:0071482 9.49 RHO CRB1
8 retina morphogenesis in camera-type eye GO:0060042 9.48 RPE65 CRB1
9 eye photoreceptor cell development GO:0042462 9.46 TULP1 NR2E3 MFRP CRB1
10 positive regulation of rhodopsin gene expression GO:0045872 9.43 NRL NR2E3
11 regulation of rhodopsin gene expression GO:0007468 9.37 RPE65 NRL
12 visual perception GO:0007601 9.32 TULP1 RPE65 RHO RD3 PRPH2 NRL

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

# Name GO ID Score Top Affiliating Genes
1 phospholipid transporter activity GO:0005548 9.26 PITPNM2 PITPNM1
2 phosphatidylinositol transporter activity GO:0008526 9.16 PITPNM2 PITPNM1
3 phosphatidylcholine transporter activity GO:0008525 8.96 PITPNM2 PITPNM1
4 phosphatidylcholine binding GO:0031210 8.8 RPE65 PITPNM2 PITPNM1

Sources for Retinal Degeneration

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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68 SNOMED-CT via HPO
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