Aliases & Classifications for Retinal Disease

MalaCards integrated aliases for Retinal Disease:

Name: Retinal Disease 12 14
Retinal Diseases 41 69
Retinal Disorders 40

Classifications:



External Ids:

Disease Ontology 12 DOID:5679
ICD10 32 H35.9 H36 H35.8
ICD9CM 34 362.9
MeSH 41 D012164
UMLS 69 C0035309

Summaries for Retinal Disease

MedlinePlus : 40 The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. In the center of this nerve tissue is the macula. It provides the sharp, central vision needed for reading, driving and seeing fine detail. Retinal disorders affect this vital tissue. They can affect your vision, and some can be serious enough to cause blindness. Examples are Macular degeneration - a disease that destroys your sharp, central vision Diabetic eye disease Retinal detachment - a medical emergency, when the retina is pulled away from the back of the eye Retinoblastoma - cancer of the retina. It is most common in young children. Macular pucker - scar tissue on the macula Macular hole - a small break in the macula that usually happens to people over 60 Floaters - cobwebs or specks in your field of vision NIH: National Eye Institute

MalaCards based summary : Retinal Disease, also known as retinal diseases, is related to retinitis and macular dystrophy, vitelliform, 3, and has symptoms including eye manifestations An important gene associated with Retinal Disease is PRPH2 (Peripherin 2), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. The drugs Nitric Oxide and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include the retina, eye and endothelial, and related phenotypes are nervous system and pigmentation

Disease Ontology : 12 An eye disease that is located in the retina.

Related Diseases for Retinal Disease

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

(show top 50) (show all 137)
# Related Disease Score Top Affiliating Genes
1 retinitis 31.8 PRPH2 RHO RPE65 RPGR
2 macular dystrophy, vitelliform, 3 31.8 BEST1 PRPH2
3 cone dystrophy 31.6 CNGB3 GUCY2D RPGR
4 stargardt disease 1 31.5 ABCA4 CNGB3 CRX RHO
5 prolonged electroretinal response suppression 31.5 ABCA4 CRB1 CRX GUCY2D PRPH2
6 hereditary night blindness 31.4 CACNA1F RHO
7 retinal degeneration 31.0 ABCA4 AIPL1 BEST1 CRB1 CRX GUCY2D
8 congenital stationary night blindness 30.9 ABCA4 AIPL1 CACNA1F CNGB3 GUCY2D PDE6B
9 leber congenital amaurosis 30.5 ABCA4 AIPL1 BEST1 CEP290 CNGB3 CRB1
10 choroiditis 30.4 ARMS2 CFH
11 leber congenital amaurosis 4 30.1 AIPL1 CRX GUCY2D RPE65
12 achromatopsia 29.9 CNGB3 RPE65 RPGR
13 usher syndrome 29.7 MYO7A RPGR USH2A
14 macular degeneration, age-related, 1 29.4 ABCA4 ARMS2 BEST1 CFH CRB1 PDE6B
15 retinitis pigmentosa 28.1 ABCA4 AIPL1 ARMS2 BEST1 CACNA1F CEP290
16 jalili syndrome 10.9
17 severe early-childhood-onset retinal dystrophy 10.7 ABCA4 RPE65
18 cone-rod dystrophy 3 10.7 ABCA4 CACNA1F
19 aland island eye disease 10.7
20 usher syndrome, type iia 10.7
21 leber congenital amaurosis 10 10.7 CEP290 RPE65
22 stargardt macular degeneration 10.7 ABCA4 PRPH2 RHO
23 night blindness, congenital stationary, type 1a 10.7
24 night blindness, congenital stationary, type 1e 10.7
25 night blindness, congenital stationary, type 1h 10.7
26 autosomal dominant congenital stationary night blindness 10.7 PDE6B RHO
27 hereditary choroidal atrophy 10.7 AIPL1 GUCY2D PRPH2
28 partial central choroid dystrophy 10.7 AIPL1 GUCY2D PRPH2
29 multifocal choroiditis 10.6 ARMS2 CFH
30 leber congenital amaurosis 12 10.6 CEP290 GUCY2D RPE65
31 bestrophinopathy 10.6 BEST1 PRPH2
32 central serous chorioretinopathy 10.6 ARMS2 CFH
33 orofaciodigital syndrome i 10.6 CEP290 RPGR
34 usher syndrome, type i 10.6 MYO7A RHO USH2A
35 peripheral retinal degeneration 10.6 BEST1 PRPH2 RPGR
36 eye degenerative disease 10.6 GUCY2D PRPH2
37 retinal drusen 10.6 ARMS2 CFH
38 retinitis pigmentosa 50 10.6 BEST1 RPGR
39 retinitis pigmentosa 19 10.6 ABCA4 PDE6B
40 cone-rod dystrophy 6 10.6 CNGB3 GUCY2D RPGR
41 choroideremia 10.6 CNGB3 GUCY2D RPE65
42 night blindness 10.6 CACNA1F PDE6B RHO
43 usher syndrome, type iid 10.6 MYO7A RHO RPGR USH2A
44 retinitis pigmentosa 26 10.6 CNGB3 GUCY2D RPGR
45 enhanced s-cone syndrome 10.5
46 macular dystrophy, vitelliform, 4 10.5
47 macular dystrophy, vitelliform, 5 10.5
48 vitreoretinochoroidopathy dominant 10.5
49 retinitis pigmentosa 13 10.5 PRPF31 RPGR
50 choroid disease 10.5 CNGB3 RPE65

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



Diseases related to Retinal Disease

Symptoms & Phenotypes for Retinal Disease

UMLS symptoms related to Retinal Disease:


eye manifestations

MGI Mouse Phenotypes related to Retinal Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 RPE65 CFH RPGR CNGB3 RS1 CRB1
2 pigmentation MP:0001186 9.8 CFH RPGR RS1 CRB1 CRX MYO7A
3 vision/eye MP:0005391 9.6 CFH RPGR CNGB3 RS1 CRB1 USH2A

Drugs & Therapeutics for Retinal Disease

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

(show top 50) (show all 773)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 4,Phase 2,Phase 3 10102-43-9 145068
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
3
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
4
Fenofibrate Approved Phase 4,Phase 3,Phase 2 49562-28-9 3339
5
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
6
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7440-66-6 32051 23994
7
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2 2068-78-2, 57-22-7 5978
8
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1 33419-42-0 36462
9
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
10
Carboplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 41575-94-4 10339178 38904 498142
11
Diclofenac Approved, Vet_approved Phase 4,Phase 1 15307-86-5 3033
12
Cidofovir Approved Phase 4,Phase 3,Phase 2,Phase 1 113852-37-2 60613
13
Ganciclovir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 82410-32-0 3454
14
Metformin Approved Phase 4,Phase 3,Phase 2,Early Phase 1 657-24-9 4091 14219
15
Spironolactone Approved Phase 4,Phase 2,Phase 3,Phase 1 1952-01-7, 52-01-7 5833
16
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 443872 150310
17
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
18
Ephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 299-42-3 9294
19
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
20
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
21
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
22
Acarbose Approved, Investigational Phase 4,Phase 3,Early Phase 1 56180-94-0 441184
23
Lidocaine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Early Phase 1 137-58-6 3676
24
Acetazolamide Approved, Vet_approved Phase 4,Phase 3,Phase 2 59-66-5 1986
25
Glatiramer Acetate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 147245-92-9 3081884
26
Ketorolac Approved Phase 4,Phase 2,Phase 3,Phase 1 74103-06-3, 66635-83-4 3826
27
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 5284549 3154
28
Verteporfin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 129497-78-5
29
Foscarnet Approved Phase 4,Phase 3,Phase 2,Phase 1 4428-95-9, 63585-09-1 3415
30
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 124-94-7 31307
31
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
32
Pseudoephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 90-82-4 7028
33
Menthol Approved Phase 4,Phase 2 2216-51-5 16666
34
Hydroxocobalamin Approved Phase 4,Phase 2 13422-51-0 5460373 44475014 11953898
35
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 347396-82-1 459903
36
Nepafenac Approved, Investigational Phase 4,Phase 3,Phase 2 78281-72-8 151075
37
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
38
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 67-73-2 6215
39
Insulin Glargine Approved Phase 4,Early Phase 1 160337-95-1
40
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
41
Temazepam Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 846-50-4 5391
42
Fluorouracil Approved Phase 4,Phase 3 51-21-8 3385
43
Insulin Aspart Approved Phase 4,Phase 3,Phase 2,Early Phase 1 116094-23-6 16132418
44
Povidone-iodine Approved Phase 4,Phase 3,Phase 2,Phase 1 25655-41-8
45 Poractant alfa Approved Phase 4 129069-19-8
46
Dopamine Approved Phase 4,Phase 2,Phase 1 51-61-6, 62-31-7 681
47
Levodopa Approved Phase 4,Phase 2,Phase 1 59-92-7 6047
48
Probenecid Approved, Investigational Phase 4,Phase 2,Phase 1 57-66-9 4911
49
Indomethacin Approved, Investigational Phase 4,Phase 3 53-86-1 3715
50
Ciprofloxacin Approved, Investigational Phase 4,Phase 2,Phase 1 85721-33-1 2764

Interventional clinical trials:

(show top 50) (show all 2793)

# Name Status NCT ID Phase Drugs
1 Macugen for Proliferative Diabetic Retinopathy Study With Extended Dosing (M-PDRS ED) Unknown status NCT01486771 Phase 4 Macugen ® (pegaptanib sodium)
2 Thiazolidinedione (TZD) on the Diabetic Retinopathy and Nephropathy Unknown status NCT01175486 Phase 4 Actos (Pioglitazone);Acarbose
3 Panretinal Photocoagulation for Proliferative Diabetic Retinopathy in a Single Session Using Low Fluence Parameters Unknown status NCT01023698 Phase 4
4 PASCAL Laser Versus ETDRS Laser Associated With Intravitreal Ranibizumab (IVR) Versus Only IVR for Proliferative Diabetic Retinopathy Unknown status NCT02005432 Phase 4 Intravitreal Ranibizumabe;panfotocoagulation (PASCAL);panfotocoagulation (PRP) single shoot (ETDRS)
5 Efficient Study of ACULAR in Inhibiting Proliferative Retinopathy in Prematurity Unknown status NCT00634972 Phase 4 ACULAR;REFRESH TEARS;placebo
6 Effect of Doxium on High Sensitivity CRP and Endothelin-1 Serum Levels in Patients With Diabetic Retinopathy Unknown status NCT01382498 Phase 4 Calcium dobesilate (Doxium);Placebo drug
7 Use of Intravitreal Ranibizumab in the Treatment of Vitreous Hemorrhage Unknown status NCT01824043 Phase 4 intravitreal ranibizumab injections
8 Effect of Folic Acid, Vitamin B6 and Vitamin B12 in Diabetic Retinopathy Unknown status NCT01921192 Phase 4 Folic Acid, vit B6 and B12;Placebo
9 Effects of Fenofibrate on Endothelial Progenitor Cells in Diabetes Unknown status NCT01927315 Phase 4 Fenofibrate 145 mg;Placebo
10 Laser Therapy Combined With Intravitreal Aflibercept vs Intravitreal Aflibercept Monotherapy (LADAMO) Unknown status NCT02432547 Phase 4 Aflibercept
11 Ranibizumab in Diabetic Vitrectomy Unknown status NCT01306981 Phase 4 Ranibizumab;Saline
12 Effects of Copaxone in the Retinal Function in Diabetic Patients After Panphotocoagulation Unknown status NCT00677664 Phase 4 Glatiramer acetate (Copaxone);Mannitol
13 Changes in Macular Thickness After Patterns Scan Laser Unknown status NCT00563628 Phase 4
14 Changes in Electroretinogram and Contrast Sensitivity After PASCAL Treatment Unknown status NCT00563043 Phase 4
15 Cpap at Delivery Room for Preterm Infants Unknown status NCT01024361 Phase 4
16 Intravitreal Ranibizumab for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy Unknown status NCT00540930 Phase 4 Ranibizumab
17 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
18 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab;Ranibizumab;Ranibizumab
19 Aflibercept (EYLEA)as Secondary or Third Line Treatment for Neovascular Age-related Macular Degeneration. Unknown status NCT01918878 Phase 4 Aflibercept (EYLEA)
20 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4 bevacizumab;bevacizumab
21 Influence of Nitrates on Bone Remodeling and Endothelial Function in Patients With Type 2 Diabetes Mellitus Unknown status NCT02011620 Phase 4
22 ALPI vs Medical Therapy Effects on Optic Nerve Structure & Function Unknown status NCT00485238 Phase 4 Intravenous acetazolamide
23 Withholding Feeds During Red Blood Cell Transfusion and TRAGI Unknown status NCT02132819 Phase 4
24 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
25 Adjunctive Local Application of Lidocaine During Scleral Buckling Under General Anesthesia Unknown status NCT01417572 Phase 4 lidocaine
26 Combination OZURDEX® & LUCENTIS® vs. OZURDEX® Monotherapy in Incomplete-Responders With Diabetic Macular Edema Unknown status NCT02684084 Phase 4 Ozurdex;Lucentis
27 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
28 The Endurance 1 Trial Unknown status NCT02297204 Phase 4 aflibercept 2.0 mg
29 EAGLE: Evaluating Genotypes Using Intravitreal Aflibercept Injection Unknown status NCT02689518 Phase 4 Intravitreal aflibercept injection
30 Treat and Extend Therapy Study Using Intravitreal Aflibercept for Patients Exited From Protocol VGFT-OD 0910 Unknown status NCT01961414 Phase 4 Aflibercept
31 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
32 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
33 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)
34 Effect of Dexamethasone Implant in Hard Exudate Complicated With Diabetic Macular Edema Unknown status NCT02399657 Phase 4 Intravitreal dexamethasone 0.7mg implant
35 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
36 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4 bevacizumab (Sub-tenon´s injection)
37 Early CPAP in Respiratory Distress Syndrome Unknown status NCT00368680 Phase 4
38 Posterior Subtenon Versus Intravitreal Injection of Triamcinolone Acetonide for Treatment of Uveitic Cystoid Macular Edema Unknown status NCT02598869 Phase 4 Triamcinolone Acetonide
39 Aflibercept Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT02033018 Phase 4 Aflibercept Injection
40 Retinal Sensitivity in BRVO After Anti-VEGF Therapy Unknown status NCT02527733 Phase 4 Ranibizumab;Ranibizumab and laser
41 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
42 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
43 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
44 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Occlusion Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
45 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Unknown status NCT02055911 Phase 4 Ranibizumab
46 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4 bevacizumab and triamcinolone
47 Anesthesia for Retinopathy of Prematurity Completed NCT01955135 Phase 4 Ketamine;Sevoflurane;propofol
48 Topical Application of Latanoprost in Diabetic Retinopathy Completed NCT01225653 Phase 4 Latanoprost
49 Intravitreal Bevacizumab for Proliferative Diabetic Retinopathy Completed NCT01724385 Phase 4 intravitreal injection of bevacizumab
50 Comparison of Insulin Glargine and NPH Human Insulin in Progression of Diabetic Retinopathy in Type 2 Diabetic Patients Completed NCT00174824 Phase 4 Insulin glargine

Search NIH Clinical Center for Retinal Disease

Cochrane evidence based reviews: retinal diseases

Genetic Tests for Retinal Disease

Anatomical Context for Retinal Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Retinal Disease:

18
The Retina

MalaCards organs/tissues related to Retinal Disease:

38
Eye, Endothelial, Retina, Bone, Testes, Brain, Lung

Publications for Retinal Disease

Articles related to Retinal Disease:

(show top 50) (show all 339)
# Title Authors Year
1
Approach for a Clinically Useful Comprehensive Classification of Vascular and Neural Aspects of Diabetic Retinal Disease. ( 29372250 )
2018
2
Postoperative Complications of Pars Plana Vitrectomy for Diabetic Retinal Disease. ( 29215958 )
2018
3
Autologous stem cell therapy for inherited and acquired retinal disease. ( 29360008 )
2018
4
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. ( 29320387 )
2018
5
Telemedicine Applications in Pediatric Retinal Disease. ( 28333078 )
2017
6
Blur Adaptation to Central Retinal Disease. ( 28728172 )
2017
7
Manipulating ocular endothelial tight junctions: Applications in treatment of retinal disease pathology and ocular hypertension. ( 28951125 )
2017
8
Minireview: Fibronectin in retinal disease. ( 27798121 )
2017
9
Safety and acceptability of an organic light-emitting diode sleep mask as a potential therapy for retinal disease. ( 27983728 )
2017
10
Stem cell-derived retinal pigment epithelium transplantation for treatment of retinal disease. ( 28554398 )
2017
11
Stem Cells for Retinal Disease: A Perspective on the Promise and Perils. ( 28428049 )
2017
12
Multisensory cue combination after sensory loss: Audio-visual localization in patients with progressive retinal disease. ( 28182481 )
2017
13
Genetic Testing for Inherited Retinal Disease. ( 28823343 )
2017
14
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. ( 28559085 )
2017
15
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. ( 28041643 )
2017
16
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. ( 28749477 )
2017
17
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease. ( 28341476 )
2017
18
Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease. ( 28118666 )
2017
19
Genome editing: the breakthrough technology for inherited retinal disease? ( 28695744 )
2017
20
Mechanisms of mutant PDE6 proteins underlying retinal diseases. ( 28583373 )
2017
21
The Blood-Retinal Barrier in the Management of Retinal Disease: EURETINA Award Lecture. ( 28152535 )
2017
22
An experimental comparison of human and bovine rhodopsin provides insight into the molecular basis of retinal disease. ( 28369862 )
2017
23
Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-I^ (PPARI^) are disrupted by retinal disease-associated mutations. ( 28300834 )
2017
24
Unique cell biological profiles of retinal disease-causing missense mutations in the polarity protein Crumbs. ( 28515229 )
2017
25
Retinal miRNAs variations in a large cohort of inherited retinal disease. ( 28704127 )
2017
26
Bestrophin 1 and retinal disease. ( 28153808 )
2017
27
Evidence for Telemedicine for Diabetic Retinal Disease. ( 27748634 )
2017
28
Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases. ( 26603570 )
2016
29
Author Response: Comments on Enrichment of Macular Pigment Enhances Contrast Sensitivity in Subjects Free of Retinal Disease: CREST - Report 1. ( 27737465 )
2016
30
Molecular findings from 537 individuals with inherited retinal disease. ( 27208204 )
2016
31
Macromolecular markers in normal human retina and applications to human retinal disease. ( 26769220 )
2016
32
Anti-angiogenic Therapy for Retinal Disease. ( 27783271 )
2016
33
Induced Pluripotent Stem Cells and Outer Retinal Disease. ( 26880948 )
2016
34
The Prevalence and Characteristics of Charles Bonnet Syndrome in Turkish Patients with Retinal Disease. ( 27188990 )
2016
35
Retinal disease in the C3 glomerulopathies and the risk of impaired vision. ( 26915021 )
2016
36
Endogenous and Synthetic Cannabinoids as Therapeutics in Retinal Disease. ( 26881135 )
2016
37
Intravitreal Steroid Implants in the Management of Retinal Disease and Uveitis. ( 27575764 )
2016
38
RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations. ( 27748892 )
2016
39
Vascular Endothelial Growth Factor and Diabetic Retinal Disease. ( 26959128 )
2016
40
Cell-Based Therapy for Degenerative Retinal Disease. ( 26791247 )
2016
41
Clustered Regularly Interspaced Short Palindromic Repeats: Challenges in Treating Retinal Disease. ( 27488072 )
2016
42
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. ( 26872967 )
2016
43
Comments on Enrichment of Macular Pigment Enhances Contrast Sensitivity in Subjects Free of Retinal Disease: CREST - Report 1. ( 27737464 )
2016
44
OR2W3 sequence variants are unlikely to cause inherited retinal diseases. ( 26891008 )
2016
45
How Was Your Sleep? New Implications for Obstructive Sleep Apnea in Retinal Disease. ( 26841214 )
2016
46
Multimodal Imaging in Retinal Disease: A Consensus Definition. ( 26985792 )
2016
47
Comparative sequence analyses of rhodopsin and RPE65 reveal patterns of selective constraint across hereditary retinal disease mutations. ( 26750628 )
2016
48
Clinical applications of fundus autofluorescence in retinal disease. ( 27847630 )
2016
49
Cell therapy for retinal disease. ( 26859132 )
2016
50
Wide field of view swept-source optical coherence tomography for peripheral retinal disease. ( 26755643 )
2016

Variations for Retinal Disease

Expression for Retinal Disease

Search GEO for disease gene expression data for Retinal Disease.

Pathways for Retinal Disease

GO Terms for Retinal Disease

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

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.5 CEP290 RPGR USH2A
2 photoreceptor disc membrane GO:0097381 9.46 ABCA4 GUCY2D PDE6B RHO
3 photoreceptor connecting cilium GO:0032391 9.43 CEP290 MYO7A USH2A
4 photoreceptor inner segment GO:0001917 9.43 AIPL1 ARMS2 CRB1 MYO7A RHO USH2A
5 photoreceptor outer segment GO:0001750 9.17 ABCA4 CACNA1F CNGB3 MYO7A PRPH2 RHO

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.83 ABCA4 AIPL1 BEST1 CACNA1F CNGB3 CRX
2 retinoid metabolic process GO:0001523 9.7 ABCA4 RHO RPE65
3 retina homeostasis GO:0001895 9.67 AIPL1 ARMS2 RPE65
4 photoreceptor cell maintenance GO:0045494 9.65 ABCA4 RHO USH2A
5 retina development in camera-type eye GO:0060041 9.62 PDE6B PRPH2 RHO RPE65
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.61 GUCY2D PDE6B RHO
7 eye photoreceptor cell development GO:0042462 9.58 CEP290 CRB1 MYO7A
8 rhodopsin mediated signaling pathway GO:0016056 9.54 PDE6B RHO
9 detection of light stimulus involved in visual perception GO:0050908 9.54 BEST1 CACNA1F RPE65
10 inner ear receptor cell differentiation GO:0060113 9.51 MYO7A USH2A
11 detection of light stimulus GO:0009583 9.46 PDE6B RHO
12 phototransduction, visible light GO:0007603 9.46 ABCA4 AIPL1 PDE6B RHO
13 response to stimulus GO:0050896 9.44 ABCA4 AIPL1 BEST1 CACNA1F CNGB3 CRX
14 sensory perception of light stimulus GO:0050953 9.43 MYO7A RHO USH2A

Sources for Retinal Disease

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
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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