Aliases & Classifications for Retinal Disease

Summaries for Retinal Disease

MedlinePlus : 43 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 macular dystrophy, vitelliform, 3 and retinitis, 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 Zinc and Lidocaine 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 119)
# Related Disease Score Top Affiliating Genes
1 macular dystrophy, vitelliform, 3 32.4 BEST1 PRPH2
2 retinitis 32.2 PRPH2 RHO RPGR
3 cone dystrophy 32.0 BEST1 CNGB3 RPGR
4 prolonged electroretinal response suppression 31.9 ABCA4 CRB1 CRX GUCY2D PRPH2
5 stargardt disease 31.3 ABCA4 CNGB3 CRB1 MYO7A PRPH2 RHO
6 choroiditis 30.9 ARMS2 CFH
7 retinal degeneration 30.9 ABCA4 AIPL1 BEST1 CRB1 CRX GUCY2D
8 leber congenital amaurosis 4 30.6 AIPL1 CRX GUCY2D RPE65
9 coats disease 30.5 CRB1 RHO RS1
10 achromatopsia 30.4 CNGB3 RPE65 RPGR
11 hereditary retinal dystrophy 30.3 CEP290 GUCY2D RHO RS1
12 leber congenital amaurosis 30.0 ABCA4 AIPL1 BEST1 CEP290 CNGB3 CRB1
13 macular degeneration, age-related, 1 29.6 ABCA4 ARMS2 BEST1 CFH CRB1 PDE6B
14 retinitis pigmentosa 27.7 ABCA4 AIPL1 BEST1 CACNA1F CEP290 CRB1
15 fundus dystrophy 27.5 ABCA4 AIPL1 BEST1 CEP290 CNGB3 CRB1
16 severe early-childhood-onset retinal dystrophy 11.1 ABCA4 RPE65
17 cone-rod dystrophy 3 11.1 ABCA4 CACNA1F
18 stargardt macular degeneration 11.1 ABCA4 PRPH2 RHO
19 macular dystrophy, concentric annular 11.1 ABCA4 CRX
20 hereditary choroidal atrophy 11.1 AIPL1 GUCY2D PRPH2
21 autosomal dominant congenital stationary night blindness 11.1 PDE6B RHO
22 partial central choroid dystrophy 11.1 AIPL1 GUCY2D PRPH2
23 leber congenital amaurosis 10 11.0 CEP290 RPE65
24 leber congenital amaurosis 12 11.0 CEP290 GUCY2D RPE65
25 orofaciodigital syndrome i 11.0 CEP290 RPGR
26 multifocal choroiditis 11.0 ARMS2 CFH
27 central serous chorioretinopathy 11.0 ARMS2 CFH
28 bestrophinopathy 11.0 BEST1 PRPH2 RPE65
29 eye degenerative disease 11.0 GUCY2D PRPH2
30 peripheral retinal degeneration 11.0 BEST1 PRPH2 RPGR
31 usher syndrome, type i 11.0 MYO7A RHO USH2A
32 retinal drusen 11.0 ARMS2 CFH
33 retinitis pigmentosa 50 10.9 BEST1 RPGR
34 choroid disease 10.9 CNGB3 RPE65 RPGR
35 cone-rod dystrophy 6 10.9 CNGB3 GUCY2D RPGR
36 tritanopia 10.9 CNGB3 GUCY2D RHO
37 usher syndrome, type iid 10.9 MYO7A RHO RPGR USH2A
38 macular dystrophy, dominant cystoid 10.9 BEST1 CRB1
39 retinitis pigmentosa 26 10.9 CNGB3 GUCY2D RPGR
40 jalili syndrome 10.9
41 retinitis pigmentosa 13 10.9 PRPF31 RPGR
42 retinitis pigmentosa 44 10.9 CNGB3 RPGR
43 night blindness 10.9 CACNA1F PDE6B RHO RPE65
44 red-green color blindness 10.9 ABCA4 CNGB3 RHO RPE65
45 retinitis pigmentosa 19 10.8 ABCA4 PDE6B
46 usher syndrome, type iic 10.8 CRB1 MYO7A PDE6B USH2A
47 retinitis pigmentosa 43 10.8 PDE6B RHO
48 fundus albipunctatus 10.8 CACNA1F PDE6B PRPH2 RHO RPE65
49 stargardt disease 1 10.8 ABCA4 CNGB3 CRX RHO
50 degeneration of macula and posterior pole 10.8 ABCA4 ARMS2 CFH RHO 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 CNGB3 RS1 CRB1 USH2A CRX GUCY2D
2 pigmentation MP:0001186 9.8 RS1 CRB1 CRX MYO7A PDE6B ABCA4
3 vision/eye MP:0005391 9.6 RS1 CRB1 USH2A CRX GUCY2D MYO7A

Drugs & Therapeutics for Retinal Disease

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

(show top 50) (show all 801)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 7440-66-6 23994
2
Lidocaine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 137-58-6 3676
3
Foscarnet Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 63585-09-1, 4428-95-9 3415
4
Spironolactone Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 1952-01-7, 52-01-7 5833
5
Dorzolamide Approved Phase 4,Phase 2,Phase 3,Not Applicable 120279-96-1 3154 5284549
6
Pioglitazone Approved, Investigational Phase 4,Not Applicable 111025-46-8 4829
7
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 33419-42-0 36462
8
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 347396-82-1 459903
9
Menthol Approved Phase 4,Phase 2,Not Applicable 2216-51-5 16666
10
Glatiramer Acetate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 147245-92-9 3081884
11
Acetazolamide Approved, Vet_approved Phase 4,Phase 3,Phase 2 59-66-5 1986
12
Metformin Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 657-24-9 14219 4091
13
Carboplatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 41575-94-4 10339178 498142 38904
14
Eplerenone Approved Phase 4,Phase 2,Phase 3,Not Applicable 107724-20-9 150310 443872
15
Mannitol Approved, Investigational Phase 4,Not Applicable 69-65-8 453 6251
16
Enalaprilat Approved Phase 4,Phase 2,Not Applicable 76420-72-9 6917719
17
Ganciclovir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 82410-32-0 3454
18
Ketorolac Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 74103-06-3, 66635-83-4 3826
19
Hydroxocobalamin Approved Phase 4,Phase 2,Not Applicable 13422-51-0 11953898 44475014
20
Verteporfin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 129497-78-5
21
Ephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 299-42-3 9294
22
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2068-78-2, 57-22-7 5978
23
Pseudoephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 90-82-4 7028
24
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1959-05-2, 59-05-2 126941
25
Progesterone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 57-83-0 5994
26
Enalapril Approved, Vet_approved Phase 4,Phase 2,Not Applicable 75847-73-3 5362032 40466924
27
Diclofenac Approved, Vet_approved Phase 4,Phase 1,Not Applicable 15307-86-5 3033
28
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
29
Cidofovir Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 113852-37-2 60613
30
Nitric Oxide Approved Phase 4,Phase 2,Phase 3 10102-43-9 145068 160954
31
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
32
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 124-94-7 31307
33
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-24-8 5755
34
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15687-27-1 3672
35
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
36
Fenofibrate Approved Phase 4,Phase 3,Phase 2,Not Applicable 49562-28-9 3339
37
Indomethacin Approved, Investigational Phase 4,Phase 3,Phase 2 53-86-1 3715
38
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1994-09-7, 94-09-7 2337
39
Acarbose Approved, Investigational Phase 4,Phase 3,Early Phase 1 56180-94-0 441184
40
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
41
Nepafenac Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 78281-72-8 151075
42
AT-101 Approved, Investigational Phase 4 90141-22-3, 652-67-5 12597
43
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 83-43-2 6741
44
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 67-73-2 6215
45
Insulin Aspart Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 116094-23-6 16132418
46
Insulin Glargine Approved Phase 4,Phase 3,Not Applicable,Early Phase 1 160337-95-1
47
Fluorouracil Approved Phase 4,Phase 3 51-21-8 3385
48
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 216974-75-3
49
Temazepam Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 846-50-4 5391
50
Povidone-iodine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 25655-41-8

Interventional clinical trials:

(show top 50) (show all 3052)
# 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 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
16 Cpap at Delivery Room for Preterm Infants Unknown status NCT01024361 Phase 4
17 Intravitreal Ranibizumab for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy Unknown status NCT00540930 Phase 4 Ranibizumab
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 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
22 Influence of Nitrates on Bone Remodeling and Endothelial Function in Patients With Type 2 Diabetes Mellitus Unknown status NCT02011620 Phase 4
23 Predictors of Treatment Response to Aflibercept and Aqueous Cytokine Levels in Patients With Persistent Diabetic Macular Edema Following Treatment With Ranibizumab: An Interventional Prospective Study Unknown status NCT02651168 Phase 4
24 ALPI vs Medical Therapy Effects on Optic Nerve Structure & Function Unknown status NCT00485238 Phase 4 Intravenous acetazolamide
25 Withholding Feeds During Red Blood Cell Transfusion and TRAGI Unknown status NCT02132819 Phase 4
26 Combination Treatment of Intravitreal Ranibizumab, Focal/Grid Laser and Panretinal Photocoagulation in Patients With Diabetic Macula Edema Unknown status NCT02131350 Phase 4 Ranibizumab
27 The Endurance 1 Trial Unknown status NCT02297204 Phase 4 aflibercept 2.0 mg
28 Adjunctive Local Application of Lidocaine During Scleral Buckling Under General Anesthesia Unknown status NCT01417572 Phase 4 lidocaine
29 Combination OZURDEX® & LUCENTIS® vs. OZURDEX® Monotherapy in Incomplete-Responders With Diabetic Macular Edema Unknown status NCT02684084 Phase 4 Ozurdex;Lucentis
30 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
31 Safety and Efficacy of Two Regimens of Ranibizumab 0.5 mg in Chinese Patients With Neovascular AMD Unknown status NCT02810808 Phase 4 Ranibizumab
32 EAGLE: Evaluating Genotypes Using Intravitreal Aflibercept Injection Unknown status NCT02689518 Phase 4 Intravitreal aflibercept injection
33 Treat and Extend Therapy Study Using Intravitreal Aflibercept for Patients Exited From Protocol VGFT-OD 0910 Unknown status NCT01961414 Phase 4 Aflibercept
34 Treatment of AMD With Rheohemapheresis /RHF/ Unknown status NCT01943396 Phase 4
35 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
36 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
37 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)
38 Effect of Dexamethasone Implant in Hard Exudate Complicated With Diabetic Macular Edema Unknown status NCT02399657 Phase 4 Intravitreal dexamethasone 0.7mg implant
39 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
40 To Compare Anti-VEGF Monotherapy With Anti-VEGF and EPM Grid Laser Combination Therapy for Diabetic Macular Edema Unknown status NCT02462304 Phase 4 ranibizumab;Bevacizumab
41 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4 bevacizumab (Sub-tenon´s injection)
42 Early CPAP in Respiratory Distress Syndrome Unknown status NCT00368680 Phase 4
43 Posterior Subtenon Versus Intravitreal Injection of Triamcinolone Acetonide for Treatment of Uveitic Cystoid Macular Edema Unknown status NCT02598869 Phase 4 Triamcinolone Acetonide
44 Aflibercept Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT02033018 Phase 4 Aflibercept Injection
45 Retinal Sensitivity in BRVO After Anti-VEGF Therapy Unknown status NCT02527733 Phase 4 Ranibizumab;Ranibizumab and laser
46 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
47 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
48 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
49 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Occlusion Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
50 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Unknown status NCT02055911 Phase 4 Ranibizumab

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:

19
The Retina

MalaCards organs/tissues related to Retinal Disease:

41
Eye, Endothelial, Retina, Bone, Testes, Brain, Lung

Publications for Retinal Disease

Articles related to Retinal Disease:

(show top 50) (show all 355)
# Title Authors Year
1
Autologous stem cell therapy for inherited and acquired retinal disease. ( 29360008 )
2018
2
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. ( 29559409 )
2018
3
Pharmacotherapy of retinal disease with visual cycle modulators. ( 29542350 )
2018
4
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. ( 29320387 )
2018
5
The Role of Microbiota in Retinal Disease. ( 29721973 )
2018
6
Ultra-Widefield Imaging for Pediatric Retinal Disease. ( 29888558 )
2018
7
Approach for a Clinically Useful Comprehensive Classification of Vascular and Neural Aspects of Diabetic Retinal Disease. ( 29372250 )
2018
8
Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models. ( 29659558 )
2018
9
Postoperative Complications of Pars Plana Vitrectomy for Diabetic Retinal Disease. ( 29215958 )
2018
10
Determination of Mitochondrial Oxygen Consumption in the Retina Ex Vivo: Applications for Retinal Disease. ( 29564788 )
2018
11
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. ( 29771326 )
2018
12
Ultra-Widefield Angiography With Oral Fluorescein in Pediatric Patients With Retinal Disease. ( 29621363 )
2018
13
Endoscopy for Pediatric Retinal Disease. ( 29862672 )
2018
14
Retinal findings in a patient of French ancestry with CABP4-related retinal disease. ( 29525873 )
2018
15
Neuroprotective strategies for retinal disease. ( 29481975 )
2018
16
Correspondence between retinotopic cortical mapping and conventional functional and morphological assessment of retinal disease. ( 29699983 )
2018
17
Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease. ( 28118666 )
2017
18
Multisensory cue combination after sensory loss: Audio-visual localization in patients with progressive retinal disease. ( 28182481 )
2017
19
Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-I^ (PPARI^) are disrupted by retinal disease-associated mutations. ( 28300834 )
2017
20
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. ( 28749477 )
2017
21
Mechanisms of mutant PDE6 proteins underlying retinal diseases. ( 28583373 )
2017
22
Unique cell biological profiles of retinal disease-causing missense mutations in the polarity protein Crumbs. ( 28515229 )
2017
23
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. ( 28559085 )
2017
24
Genetic Testing for Inherited Retinal Disease. ( 28823343 )
2017
25
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. ( 28041643 )
2017
26
Retinal miRNAs variations in a large cohort of inherited retinal disease. ( 28704127 )
2017
27
Stem Cells for Retinal Disease: A Perspective on the Promise and Perils. ( 28428049 )
2017
28
Stem cell-derived retinal pigment epithelium transplantation for treatment of retinal disease. ( 28554398 )
2017
29
Manipulating ocular endothelial tight junctions: Applications in treatment of retinal disease pathology and ocular hypertension. ( 28951125 )
2017
30
Blur Adaptation to Central Retinal Disease. ( 28728172 )
2017
31
The Blood-Retinal Barrier in the Management of Retinal Disease: EURETINA Award Lecture. ( 28152535 )
2017
32
Minireview: Fibronectin in retinal disease. ( 27798121 )
2017
33
An experimental comparison of human and bovine rhodopsin provides insight into the molecular basis of retinal disease. ( 28369862 )
2017
34
Evidence for Telemedicine for Diabetic Retinal Disease. ( 27748634 )
2017
35
Genome editing: the breakthrough technology for inherited retinal disease? ( 28695744 )
2017
36
Telemedicine Applications in Pediatric Retinal Disease. ( 28333078 )
2017
37
Bestrophin 1 and retinal disease. ( 28153808 )
2017
38
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease. ( 28341476 )
2017
39
Safety and acceptability of an organic light-emitting diode sleep mask as a potential therapy for retinal disease. ( 27983728 )
2017
40
Telemedicine for a General Screening of Retinal Disease Using Nonmydriatic Fundus Cameras in Optometry Centers: Three-Year Results. ( 27228051 )
2016
41
RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations. ( 27748892 )
2016
42
Cell-Based Therapy for Degenerative Retinal Disease. ( 26791247 )
2016
43
The Prevalence and Characteristics of Charles Bonnet Syndrome in Turkish Patients with Retinal Disease. ( 27188990 )
2016
44
Retinal disease in the C3 glomerulopathies and the risk of impaired vision. ( 26915021 )
2016
45
A computer-assisted method for pathogenicity assessment and genetic reporting of variants stored in the Australian Inherited Retinal Disease Register. ( 26728880 )
2016
46
Investigation of SLA4A3 as a candidate gene for human retinal disease. ( 27211793 )
2016
47
Macromolecular markers in normal human retina and applications to human retinal disease. ( 26769220 )
2016
48
Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases. ( 26603570 )
2016
49
Endogenous and Synthetic Cannabinoids as Therapeutics in Retinal Disease. ( 26881135 )
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
17 ExPASy
19 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