Retinal Disease

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinal Disease

MalaCards integrated aliases for Retinal Disease:

Name: Retinal Disease 12 15
Retinal Diseases 44 15 72
Retinal Disorders 43


External Ids:

Disease Ontology 12 DOID:5679
ICD9CM 35 362.9
MeSH 44 D012164
SNOMED-CT 68 29555009 35426003
ICD10 33 H35.8 H35.9 H36
UMLS 72 C0035309

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 cone dystrophy and enhanced s-cone syndrome, and has symptoms including eye manifestations An important gene associated with Retinal Disease is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Phototransduction and Visual Cycle in Retinal Rods. The drugs leucovorin and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and endothelial, and related phenotypes are nervous system and pigmentation

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

Wikipedia : 75 The retina is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some... more...

Related Diseases for Retinal Disease

Diseases in the Retinal Disease family:

Inherited Retinal Disorder Rare Retinal Disorder

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

(show top 50) (show all 444)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 32.9 RPGR RHO BEST1
2 enhanced s-cone syndrome 32.8 NR2E3 CRX AIPL1
3 retinoschisis 1, x-linked, juvenile 32.6 RS1 RPE65 CRX CRB1
4 cone-rod dystrophy, x-linked, 3 32.5 RPGR CACNA1F
5 macular dystrophy, vitelliform, 3 32.5 PRPH2 BEST1
6 stargardt disease 32.5 RPGR RPE65 RHO PRPH2 MYO7A CRB1
7 retinitis 32.2 RPGR RHO PRPH2
8 prolonged electroretinal response suppression 32.2 PRPH2 GUCY2D CRX CRB1 ABCA4
9 usher syndrome, type i 32.1 USH2A RHO MYO7A
10 retinal degeneration 31.4 RPGR RPE65 RHO PRPH2 PDE6B NR2E3
11 night blindness 31.3 RPE65 RHO PDE6B CACNA1F
12 macular degeneration, age-related, 1 31.3 RPE65 RHO PRPH2 CRB1 CFH BEST1
13 leber congenital amaurosis 12 31.3 RPE65 GUCY2D CEP290
14 macular dystrophy, concentric annular 31.2 CRX ABCA4
15 retinitis pigmentosa-deafness syndrome 31.2 USH2A MYO7A
16 achromatopsia 31.2 RPGR RPE65 NR2E3 CACNA1F
17 central serous chorioretinopathy 31.2 CFH ARMS2
18 macular retinal edema 31.2 CRB1 BEST1
19 retinitis pigmentosa 19 31.2 RHO PDE6B ABCA4
20 peripheral retinal degeneration 31.1 RPGR PRPH2 BEST1
21 usher syndrome, type iid 31.1 USH2A RPGR RHO MYO7A
22 leber congenital amaurosis 4 31.0 RPE65 GUCY2D CRX AIPL1
23 kuhnt-junius degeneration 31.0 CFH ARMS2
24 leber congenital amaurosis 31.0 USH2A RPGR RPE65 RHO PRPH2 PDE6B
25 retinitis pigmentosa 13 31.0 RPGR PRPF31
26 retinitis pigmentosa 50 31.0 RPGR BEST1
27 congenital stationary night blindness 31.0 RPE65 RHO PDE6B CACNA1F AIPL1 ABCA4
28 coats disease 31.0 RS1 RHO CRB1
29 retinitis pigmentosa 43 30.9 RHO PDE6B
30 leber congenital amaurosis 9 30.9 RPE65 GUCY2D CRX CRB1 AIPL1
31 degeneration of macula and posterior pole 30.9 RPE65 RHO CFH ARMS2 ABCA4
32 usher syndrome, type id 30.9 USH2A MYO7A
33 hereditary retinal dystrophy 30.8 RS1 RHO GUCY2D CEP290
34 yemenite deaf-blind hypopigmentation syndrome 30.8 USH2A RPGR RPE65 RHO MYO7A GUCY2D
35 stargardt disease 1 30.8 RHO CRX ABCA4
36 choroiditis 30.7 CFH ARMS2
37 severe early-childhood-onset retinal dystrophy 30.6 RPE65 ABCA4
38 stargardt macular degeneration 30.6 RHO PRPH2 ABCA4
39 cone-rod dystrophy 2 30.6 RPGR RPE65 RHO PRPH2 NR2E3 GUCY2D
40 retinitis pigmentosa 30.6 USH2A RS1 RPGR RPE65 RHO PRPH2
41 autosomal dominant congenital stationary night blindness 30.5 RHO PDE6B
42 leber congenital amaurosis 10 30.5 RPE65 CEP290
43 macular dystrophy, dominant cystoid 30.5 CRB1 BEST1
44 oguchi disease 30.4 RHO PDE6B CACNA1F
45 retinal drusen 30.3 CFH ARMS2
46 usher syndrome, type iic 30.2 USH2A PDE6B MYO7A CRB1
47 fundus albipunctatus 30.2 RPE65 RHO PRPH2 PDE6B CACNA1F
48 histoplasmosis 30.1 CFH ARMS2
49 optic disk drusen 29.6 RHO CRB1
50 fundus dystrophy 28.9 USH2A RS1 RPGR RPE65 RHO PRPH2

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:

# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 ABCA4 AIPL1 CACNA1F CEP290 CFH CRB1
2 pigmentation MP:0001186 9.8 ABCA4 BEST1 CEP290 CFH CRB1 CRX
3 vision/eye MP:0005391 9.6 ABCA4 AIPL1 BEST1 CACNA1F CEP290 CFH

Drugs & Therapeutics for Retinal Disease

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

(show top 50) (show all 414)
# Name Status Phase Clinical Trials Cas Number PubChem Id
leucovorin Approved Phase 4 58-05-9 143 6006
Methylcobalamin Approved, Experimental, Investigational Phase 4 13422-55-4
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
Sodium citrate Approved, Investigational Phase 4 68-04-2
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
Bevacizumab Approved, Investigational Phase 4 216974-75-3
Dipivefrin Approved Phase 4 52365-63-6 3105
Levodopa Approved Phase 4 59-92-7 6047
Benserazide Approved, Investigational Phase 4 322-35-0
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
17 Grape Approved Phase 4
Verteporfin Approved, Investigational Phase 4 129497-78-5
Fenofibrate Approved Phase 4 49562-28-9 3339
Fluorouracil Approved Phase 4 51-21-8 3385
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
Tesamorelin Approved, Investigational Phase 4 218949-48-5
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
Histidine Approved, Nutraceutical Phase 4 71-00-1 6274
Cobalamin Experimental Phase 4 13408-78-1 6857388
2,4-thiazolidinedione Investigational Phase 4 2295-31-0
30 Vitamin B 12 Phase 4
31 Vitamin B 6 Phase 4
32 Vitamin B12 Phase 4
33 Ketorolac Tromethamine Phase 4
34 (T,G)-A-L Phase 4
Glatiramer Acetate Phase 4 147245-92-9 3081884
36 Cardiac Glycosides Phase 4
37 Glycoside Hydrolase Inhibitors Phase 4
38 Sildenafil Citrate Phase 4 171599-83-0
39 Citrate Phase 4
40 Phosphodiesterase Inhibitors Phase 4
41 Phosphodiesterase 5 Inhibitors Phase 4
42 Vardenafil Dihydrochloride Phase 4
43 Antineoplastic Agents, Immunological Phase 4
44 Benserazide, levodopa drug combination Phase 4
45 Insulin, Isophane Phase 4
46 Isophane insulin, beef Phase 4
47 Isophane Insulin, Human Phase 4
48 Neuromuscular Blocking Agents Phase 4
49 Anesthetics, General Phase 4
50 Excitatory Amino Acid Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 649)
# Name Status NCT ID Phase Drugs
1 Panretinal Photocoagulation for Proliferative Diabetic Retinopathy in a Single Session Using Low Fluence Parameters Unknown status NCT01023698 Phase 4
2 Effect of Folic Acid, Vitamin B6 and Vitamin B12 in Diabetic Retinopathy Unknown status NCT01921192 Phase 4 Folic Acid, vit B6 and B12;Placebo
3 The Effect of Bevacizumab on Peripheral Retinal Changes as Imaged by Wide -Field Fluorescein Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
4 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
5 CPAP Application at Delivery Room at Very Low Birth Weight Infants Unknown status NCT01024361 Phase 4
6 Effects of Glatiramer Acetate (Copaxone) in the Nerve Fiber Layer Thickness and Retinal Function in Diabetic Patients After Pan- Retinal Photocoagulation (PRP), a Double- Masked Randomized Clinical Trial. Unknown status NCT00677664 Phase 4 Glatiramer acetate (Copaxone);Mannitol
7 Effects of Fenofibrate on Endothelial Progenitor Cell Levels in Diabetic Patients With Retinopathy. A Randomized Controlled Trial. Unknown status NCT01927315 Phase 4 Fenofibrate 145 mg;Placebo
8 A Pilot Study to Determine if Intravitreal Injections of Pegaptanib Sodium (Macugen) Given Every 12 Weeks for a Year After an Induction Phase of Three Injections Every 6 Weeks Will Reduce the Progression of Proliferative Diabetic Retinopathy in Patients Without Significant Vitreous Hemorrhage in Comparison to Treatment With Retinal Photocoagulation Alone and After an Induction Phase Unknown status NCT01486771 Phase 4 Macugen ® (pegaptanib sodium)
9 Topical Application of ACULAR a Randomized, Vehicle Controlled Clinical Trial: Efficiency in Inhibiting Proliferative Retinopathy of Prematurity Unknown status NCT00634972 Phase 4 ACULAR;REFRESH TEARS;placebo
10 A Prospective, Randomised Controlled Trial of Ranibizumab Pre-treatment in Diabetic Vitrectomy - a Pilot Study Unknown status NCT01306981 Phase 4 Ranibizumab;Saline
11 Three Arm, Prospective, Single-blind, Randomized Study Comparing Ranibizumab Plus Green Diode Laser Versus Ranibizumab Plus Pattern Scan Laser (Pascal) Versus Ranibizumab (Monotherapy) for Proliferative Diabetic Retinopathy. Unknown status NCT02005432 Phase 4 Intravitreal Ranibizumabe;panfotocoagulation (PASCAL);panfotocoagulation (PRP) single shoot (ETDRS)
12 Pilot Study Investigating the Use of Intravitreal Ranibizumab in the Treatment of Vitreous Hemorrhage in Proliferative Diabetic Retinopathy Unknown status NCT01824043 Phase 4 intravitreal ranibizumab injections
13 A Prospective, Randomized, 3-arm Parallel Trial to Evaluate the Safety and Clinical Effectiveness of 2 Lower Dose Combined PDE5i's vs. Single Maximal Dose PDE5i Treatment Unknown status NCT00498680 Phase 4 Sildenafil, Vardenafil;Sildenafil;Vardenafil;Sildenafil & Vardenafil
14 The Effects of Thiazolidinedione on the Diabetic Retinopathy and Nephropathy Unknown status NCT01175486 Phase 4 Actos (Pioglitazone);Acarbose
15 Pattern Scan Laser System vs Regular Photocoagulation System: Changes in Macular Edema Post Treatment. Unknown status NCT00563628 Phase 4
16 Pattern Scan Laser System vs Regular Photocoagulation System: Changes in Electroretinograms and Contrast Sensitivity Post Treatment. Unknown status NCT00563043 Phase 4
17 Intravitreal Bevacizumab for Surgical Treatment of Severe Proliferative Diabetic Retinopathy Completed NCT01025934 Phase 4 Bevacizumab
18 Pain Using Reduced Fluence Parameters in Photocoagulation for Diabetic Retinopathy. Completed NCT00802269 Phase 4
19 Effect of Levodopa on Human Multifocal Electroretinogram Completed NCT00812760 Phase 4 levodopa
20 Topical Application of Latanoprost in Diabetic Retinopathy Completed NCT01225653 Phase 4 Latanoprost
21 Intravitreal Bevacizumab for Proliferative Diabetic Retinopathy With New Dense Vitreous Hemorrhage After Full Panretinal Photocoagulation Completed NCT01724385 Phase 4 intravitreal injection of bevacizumab
22 Evaluation of Diabetic Retinopathy Progression in Subjects With Type 2 Diabetes Mellitus Treated With Insulin Completed NCT00174824 Phase 4 Insulin glargine
23 Ranibizumab Treatment of Diabetic Macular Oedema With Bimonthly Monitoring After a Phase of Initial Treatment. A UK, 18-month, Prospective, Open-label, Multicentre, Single-arm, Phase IIIb Study With 12-month Primary Endpoint, Assessing the Efficacy and Safety of Ranibizumab in Patients With Visual Impairment Due to Diabetic Macular Oedema. Completed NCT01257815 Phase 4 Ranibizumab
24 Efficacy of Ranibizumab Therapy With Aflibercept in Patients With Diabetic Macular Edema Completed NCT02646670 Phase 4 Ranibizumab;Aflibercept;Ranibizumab and Aflibercept;Aflibercept and ranibizumab
25 DECREASING THE NEED FOR MECHANICAL VENTILATION AFTER RETINOPATHY OF PREMATURITY SURGERY: Sedation vs General Anesthesia Completed NCT01955135 Phase 4 Ketamine;Sevoflurane;propofol
26 Sucrose and Non Nutritive Suck as Analgesia for Babies Undergoing Retinopathy of Prematurity Screening; a Randomised Placebo Controlled Trial Completed NCT00921544 Phase 4
27 Diabetic Macula Oedema. A Prospective Randomised Study Comparing the Detailed Functional and Anatomical Changes of Repeated Pan Anti-VEGF Therapy With Ranibizumab Versus Conventional Macular Laser Therapy. Completed NCT01223612 Phase 4 Ranibizumab
28 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
29 A 12 Months, Prospective, Multicenter, Open-label, Single Arm Interventional Study Assessing the Safety and Tolerability of 0.5 mg Ranibizumab in Mono/Bilateral Wet AMD Patients in Eyes With (Best-Corrected Distance Visual Acuity) BCVA Below 2/10 and/or Second Affected Eye Completed NCT01986907 Phase 4 ranibizumab
30 Prospective Randomized Controlled Study of Intravitreal Injection of 0.16 mg Bevacizumab One Day Before Surgery for Proliferative Diabetic Retinopathy Completed NCT01854593 Phase 4 Bevacizumab
31 A Multicenter, Randomized, Double-blind Non-inferiority Trial to Evaluate the Efficacy and Safety of Entelon® as Compared to Doxium Tab. And Placebo for the Treatment of Nonproliferative Diabetic Retinopathy Completed NCT03962296 Phase 4 Vitis vinifera extract;Calcium Dobesilate;Placebo
32 Morphological and Functional Retinal Changes Following Retinal Photocoagulation Using a Semiautomated Patterned Scanning Laser System in Proliferative Retinopathy or Macular Edema Secondary to Diabetes Mellitus or Retinal Vein Occlusion Completed NCT00682240 Phase 4
33 Comparison of the Vascular Endothelial Growth Factor Serum Concentrations After Intravitreal Use of Bevacizumab or Ranibizumab as a Treatment for Type 1 Retinopathy of Prematurity Completed NCT03148132 Phase 4 Bevacizumab Injection;Ranibizumab Ophthalmic
34 Open Label Macugen for the Treatment of Macular Edema Secondary to Branch Retinal Vein Occlusion Completed NCT00406107 Phase 4 pegaptanib sodium (Macugen)
35 A Prospective Randomized Controlled Multicentre Trial Comparing Half-dose Photodynamic Therapy (PDT) With High-density Subthreshold Micropulse Laser Treatment in Patients With Chronic Central Serous Chorioretinopathy (CSC) Completed NCT01797861 Phase 4
36 Evaluation of the Effect of Repeated Intravitreal Injections of Anti-VEGF on Macular Perfusion in Diabetic Patients Using Optical Coherence Tomography Angiography Completed NCT03246152 Phase 4 Bevacizumab
37 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage IV and V Completed NCT00563121 Phase 4
38 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage V. Completed NCT00500396 Phase 4
39 Effect of Continuous Positive Airway Pressure on the Progression of Vascular Retinal Disease in Patients With Sleep Apnea and Non-proliferative Diabetic Retinopathy. A Randomized Clinical Trial Recruiting NCT02874313 Phase 4 Pharmacological treatment
40 A Randomised Placebo-controlled Trial of Fenofibrate to Prevent Progression of Non-proliferative Retinopathy in Diabetes Recruiting NCT03439345 Phase 4 Fenofibrate 145 mg;Placebo Oral Tablet
41 Investigator Initiated Observational Study of Intravitreal Aflibercept Injection in Subjects With Diabetic Macular Edema Previously Treated With Ranibizumab or Bevacizumab Recruiting NCT02559180 Phase 4 aflibercept
42 Different Day Regimes of Preoperative CONbercept Administration on CytokinEs of Proliferative Diabetic Retinopathy Patients Undergoing Vitrectomy: a Prospective Randomized Controlled Clinical Trial (CONCEPT) Recruiting NCT03506750 Phase 4 IVC
43 A Phase IV Randomised Clinical Trial of Laser Therapy for Peripheral Retinal Ischaemia Combined With Intravitreal Aflibercept (Eylea®) Versus Intravitreal Aflibercept Monotherapy for Diabetic Macular Oedema Active, not recruiting NCT02432547 Phase 4 Aflibercept
44 Increase in Capillary Plexus Density Level Following the Use of Ozurdex for the Treatment of DME (RMSM ICOD STUDY) Not yet recruiting NCT04038125 Phase 4 Ozurdex Drug Implant Product
45 Outpatient Performed Pterygium Surgery Study Not yet recruiting NCT03037736 Phase 4 5-Fluorouracil;Bevacizumab;Normal saline
46 A Prospective, Randomized, Placebo-controlled, Double-blind Clinical Trial to Evaluate Whether EGRIFTA® (Tesamorelin for Injection), 2 mg Once Daily SC, Increases the Risk of Development or Progression of Diabetic Retinopathy When Administered to HIV-infected Subjects With Abdominal Lipohypertrophy and Concomitant Diabetes Terminated NCT01591902 Phase 4 Tesamorelin;Placebo-Control
47 Perfluorocarbon Perfused Vitrectomy and 3D Vitrectomy System in Advanced Diabetic Retinopathy Unknown status NCT00407108 Phase 3
48 A Phase 3 Safety and Efficacy Study of Vitreosolve® for Four Ophthalmic Intravitreal Injections For Inducing Posterior Vitreous Detachment in Retinopathy Patients. Unknown status NCT00908778 Phase 3 Vitreosolve;Vitreosolve
49 Intravitreal Bevacizumab for Management of Active Progressive Proliferative Diabetic Retinopathy (PDR) Unknown status NCT00370721 Phase 3 bevacizumab
50 A Randomized, Double Blind, Multi-Center Study of Compound Danshen Dripping Pills in Patients With Diabetic Retinopathy (Syndrome Of Qi-Stagnation and Blood Stasis) Unknown status NCT02388984 Phase 3 Compound danshen dripping pills;Placebo

Search NIH Clinical Center for Retinal Disease

Cochrane evidence based reviews: retinal diseases

Genetic Tests for Retinal Disease

Anatomical Context for Retinal Disease

MalaCards organs/tissues related to Retinal Disease:

Retina, Eye, Endothelial, Brain, Testes, Bone, Bone Marrow

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


Publications for Retinal Disease

Articles related to Retinal Disease:

(show top 50) (show all 4677)
# Title Authors PMID Year
Lens capsular flap in the management of posterior retinal hole associated retinal detachment in high myopic eyes with previous internal limiting membrane peeling: 3 case reports. 17
31335693 2019
A comparative study on retinal thickness of the macular region among AIDS patients with normal ocular fundus, HIV-related microvascular retinopathy patients, and cytomegalovirus retinitis patients. 17
31261518 2019
Optic disk hemorrhage and vitreous hemorrhage after phacoemulsification in a normal tension glaucoma patient: A case report. 17
31261575 2019
Vascular protection of salicin on IL-1β-induced endothelial inflammatory response and damages in retinal endothelial cells. 38
31106593 2019
Growth/differentiation 5 promotes the differentiation of retinal stem cells into neurons via Atoh8. 38
31066042 2019
Injectable taurine-loaded alginate hydrogels for retinal pigment epithelium (RPE) regeneration. 38
31349479 2019
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. 38
30925032 2019
Learning curve of a trained vitreo-retinal surgeon in sub-retinal injections in a rat model: Implications for future clinical trials. 38
31436191 2019
Classification of diabetes-related retinal diseases using a deep learning approach in optical coherence tomography. 38
31416547 2019
Pharmacological HIF inhibition prevents retinal neovascularization with improved visual function in a murine oxygen-induced retinopathy model. 38
30872009 2019
Targeted deletion of Crb1/Crb2 in the optic vesicle models key features of leber congenital amaurosis 8. 38
31145883 2019
CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum 38
31103025 2019
Scale-space approximated convolutional neural networks for retinal vessel segmentation. 38
31416552 2019
Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy. 38
31193260 2019
Characterization of a functionally active primary microglial cell culture from the pig retina. 38
31103710 2019
Angiotensin II and aldosterone in retinal vasculopathy and inflammation. 38
31425690 2019
Identification of splice defects due to non-canonical splice site or deep-intronic variants in ABCA4. 38
31397521 2019
Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa. 38
30998843 2019
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation. 38
31387860 2019
Development of a Molecularly Stable Gene Therapy Vector for the Treatment of RPGR-Associated X-Linked Retinitis Pigmentosa. 38
31106594 2019
A case of X-linked retinoschisis with atypical fundus appearance. 38
31006083 2019
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge. 38
31429209 2019
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach. 38
30977563 2019
Deep Neural Network Regression for Automated Retinal Layer Segmentation in Optical Coherence Tomography Images. 38
31395546 2019
Substance P improves MSC-mediated RPE regeneration by modulating PDGF-BB. 38
31176487 2019
[Baseline diagnostics and initial treatment decision for anti-vascular endothelial growth factor treatment in retinal diseases : Comparison between results by study physician and reading centers (ORCA/OCEAN study)]. 38
30367231 2019
Retinal and optic nerve degeneration in liver X receptor β knockout mice. 38
31371497 2019
Low health literacy levels in patients with chronic retinal disease. 38
31395040 2019
Test performance of optical coherence tomography angiography in detecting retinal diseases: a systematic review and meta-analysis. 38
30971815 2019
Diabetic retinopathy and age-related macular degeneration: a survey of pharmacoutilization and cost in Calabria, Italy. 38
30964071 2019
Ocular Carotenoid Status in Health and Disease. 38
31091415 2019
Neuroprotective Peptides in Retinal Disease. 38
31374938 2019
Detection of serum anti-retinal antibodies in the Chinese patients with presumed autoimmune retinopathy. 38
31119427 2019
Suprachoroidally injected pharmacological agents for the treatment of chorio-retinal diseases: a targeted approach. 38
30702218 2019
Parents' perceptions of diagnostic genetic testing for children with inherited retinal disease in China. 38
31373165 2019
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. 38
30297699 2019
Metalloproteinases mediate diabetes-induced retinal neuropathy and vasculopathy. 38
31183508 2019
Translational research in retinal vascular disease. An approach. 38
30801973 2019
The obstacle course to the inner retina: Hyaluronic acid-coated lipoplexes cross the vitreous but fail to overcome the inner limiting membrane. 38
31150809 2019
Retinal Pathologic Features on OCT among Eyes of Older Adults Judged Healthy by Color Fundus Photography. 38
31103641 2019
Development of High-Resolution Three-Dimensional-Printed Extracellular Matrix Scaffolds and Their Compatibility with Pluripotent Stem Cells and Early Retinal Cells. 38
31414943 2019
Changes of choroidal structure and circulation after water drinking test in normal eyes. 38
31378831 2019
Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants. 38
30910914 2019
RETOUCH: The Retinal OCT Fluid Detection and Segmentation Benchmark and Challenge. 38
30835214 2019
The role of ADGRE5/CD97 in human retinal pigment epithelial cell growth and survival. 38
31397926 2019
Allosteric Regulation of Rod Photoreceptor Phosphodiesterase 6 (PDE6) Elucidated by Chemical Cross-Linking and Quantitative Mass Spectrometry. 38
31394113 2019
Magnetic Iron Oxide Nanoparticle Labeling of Photoreceptor Precursors for Magnetic Resonance Imaging. 38
31418341 2019
Identification of novel RHO homozygous mutation in Chinese autosomal recessive retinitis pigmentosa patients. 38
31319082 2019
Photoreceptor cell replacement in macular degeneration and retinitis pigmentosa: A pluripotent stem cell-based approach. 38
30885665 2019
Liver-Specific, but Not Retina-Specific, Hepcidin Knockout Causes Retinal Iron Accumulation and Degeneration. 38
31287995 2019

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 USH2A RPGR CEP290
2 photoreceptor disc membrane GO:0097381 9.46 RHO PDE6B GUCY2D ABCA4
3 photoreceptor connecting cilium GO:0032391 9.43 USH2A MYO7A CEP290
4 photoreceptor outer segment GO:0001750 9.43 RPGR RHO PRPH2 MYO7A CACNA1F ABCA4
5 photoreceptor inner segment GO:0001917 9.1 USH2A RHO MYO7A CRB1 ARMS2 AIPL1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.77 USH2A RS1 RPGR RPE65 RHO PDE6B
2 retina development in camera-type eye GO:0060041 9.72 RPE65 RHO PRPH2 PDE6B NR2E3
3 retinoid metabolic process GO:0001523 9.69 RPE65 RHO ABCA4
4 retina homeostasis GO:0001895 9.67 RPE65 ARMS2 AIPL1
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.67 RHO PDE6B GUCY2D AIPL1
6 photoreceptor cell maintenance GO:0045494 9.65 USH2A RHO ABCA4
7 detection of light stimulus involved in visual perception GO:0050908 9.61 RPE65 CACNA1F BEST1
8 sensory perception of light stimulus GO:0050953 9.58 USH2A RHO MYO7A
9 eye photoreceptor cell development GO:0042462 9.56 NR2E3 MYO7A CRB1 CEP290
10 rhodopsin mediated signaling pathway GO:0016056 9.54 RHO PDE6B
11 inner ear receptor cell differentiation GO:0060113 9.52 USH2A MYO7A
12 visual perception GO:0007601 9.5 USH2A RS1 RPGR RPE65 RHO PRPH2
13 detection of light stimulus GO:0009583 9.46 RHO PDE6B
14 phototransduction, visible light GO:0007603 9.46 RHO PDE6B AIPL1 ABCA4

Sources for Retinal Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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