Retinal Disease

Categories: Eye diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Retinal Disease

MalaCards integrated aliases for Retinal Disease:

Name: Retinal Disease 11 14 38 75
Retinal Diseases 43 14 71
Retinal Disorders 41
Retinal Disorder 5


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Disease Ontology 11 DOID:5679
ICD9CM 34 362.9
MeSH 43 D012164
NCIt 49 C26875
SNOMED-CT 68 29555009
ICD10 31 H35.8 H35.9 H36
UMLS 71 C0035309

Summaries for Retinal Disease

MedlinePlus: 41 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 vitreoretinochoroidopathy and cone-rod dystrophy 3, and has symptoms including eye manifestations An important gene associated with Retinal Disease is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are miRNAs involved in DNA damage response and Cell differentiation - expanded index. The drugs Levoleucovorin and Mecobalamin have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone marrow, and related phenotype is vision/eye.

Disease Ontology: 11 An eye disease that is located in the retina.

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 781)
# Related Disease Score Top Affiliating Genes
1 vitreoretinochoroidopathy 32.4 PRPH2 IMPG2 IMPG1 ABCA4
2 cone-rod dystrophy 3 32.4 IMPG1 GUCY2D GUCA1A CRYAA CACNA1F ABCA4
3 leber plus disease 32.4 PRPH2 IMPG2 IMPG1 GUCY2D GUCA1A CRYAA
4 stargardt disease 32.3 PRPH2 IMPG2 IMPG1 GUCY2D GUCA1A ABCA4
5 night blindness 32.3 PRPH2 GUCY2D CACNA1F ABCA4
6 retinal degeneration 32.3 PRPH2 GUCY2D GUCA1A CRYAA CFHR2 ABCA4
7 cone dystrophy 32.3 PRPH2 IMPG2 GUCY2D GUCA1A CRYAA CACNA1F
8 macular dystrophy, vitelliform, 3 32.2 PRPH2 IMPG2 IMPG1
9 enhanced s-cone syndrome 32.1 IMPG2 GUCY2D ABCA4
10 choroidal dystrophy, central areolar, 1 32.1 PRPH2 GUCY2D GUCA1A ABCA4
11 night blindness, congenital stationary, type 2a 32.0 CRYAA CACNA1F
12 senior-loken syndrome 1 31.9 PRPH2 GUCY2D ABCA4
13 cone-rod dystrophy, x-linked, 3 31.9 CRYAA CACNA1F
14 retinitis pigmentosa 31.9 WDR17 PRPH2 MIR9-1 MIR21 MIR17 IMPG2
15 macular degeneration, age-related, 1 31.8 PRPH2 IMPG2 IMPG1 H2AC18 GUCY2D ERCC6
16 microvascular complications of diabetes 5 31.8 PON1 MIR21 MIR20A MIR199A1 MIR17 MIR126
17 cone-rod dystrophy 2 31.5 PRPH2 IMPG2 IMPG1 GUCY2D GUCA1A CRYAA
18 degeneration of macula and posterior pole 31.3 PRPH2 H2AC18 ERCC6 CRYAA CFHR2 ABCA4
19 eye disease 31.2 PRPH2 MIR9-1 MIR21 MIR20A MIR199A1 MIR17
20 fundus dystrophy 31.2 PRPH2 IMPG2 IMPG1 GUCY2D GUCA1A ERCC6
21 retinal vascular disease 31.2 MIR21 MIR20A MIR199A1 MIR17 MIR126 H2AC18
22 usher syndrome 31.1 PRPH2 GUCY2D GUCA1A ABCA4
23 progressive cone dystrophy 31.1 PRPH2 GUCY2D GUCA1A CACNA1F ABCA4
24 congenital stationary night blindness 31.1 PRPH2 IMPG2 IMPG1 GUCY2D GUCA1A CRYAA
25 fundus albipunctatus 31.1 PRPH2 GUCY2D CACNA1F ABCA4
26 retinoschisis 1, x-linked, juvenile 31.0 PRPH2 GUCY2D CACNA1F ABCA4
27 late-onset retinal degeneration 31.0 PRPH2 GUCY2D GUCA1A ABCA4
28 achromatopsia 31.0 PRPH2 GUCY2D GUCA1A CRYAA CACNA1F ABCA4
29 macular holes 30.9 MIR9-1 MIR199A1 CRYAA ABCA4
30 vitelliform macular dystrophy 30.8 PRPH2 IMPG2 IMPG1 GUCY2D GUCA1A ABCA4
31 choroideremia 30.7 PRPH2 GUCY2D ABCA4
32 scotoma 30.7 PRPH2 GUCY2D GUCA1A ABCA4
33 gyrate atrophy of choroid and retina 30.7 PRPH2 GUCA1A CRYAA ABCA4
34 macular dystrophy, vitelliform, 2 30.7 PRPH2 IMPG2 IMPG1
35 sorsby fundus dystrophy 30.6 IMPG2 ERCC6 CRYAA CFHR2 ABCA4
36 doyne honeycomb retinal dystrophy 30.6 PRPH2 ERCC6 CFHR2 ABCA4
37 refractive error 30.6 H2AC18 GUCY2D ERCC6 CRYAA CACNA1F ABCA4
38 bestrophinopathy, autosomal recessive 30.6 PRPH2 IMPG2 IMPG1 ABCA4
39 coloboma of macula 30.6 H2AC18 GUCY2D ERCC6 CRYAA
40 melanoma, uveal 30.6 MIR9-1 MIR199A1 MIR17 H2AC18 ERCC6 CRYAA
41 immune deficiency disease 30.5 MIR9-1 MIR21 MIR20A MIR199A1 MIR17 MIR126
42 type 2 diabetes mellitus 30.5 PON1 MIR9-1 MIR21 MIR20A MIR199A1 MIR17
43 occult macular dystrophy 30.4 PRPH2 GUCY2D GUCA1A ABCA4
44 blue cone monochromacy 30.4 PRPH2 GUCY2D GUCA1A CACNA1F ABCA4
45 usher syndrome type 2 30.4 PRPH2 GUCY2D ABCA4
46 inherited metabolic disorder 30.4 MIR9-1 MIR21 MIR20A MIR199A1 MIR17 MIR126
47 color blindness 30.4 PRPH2 GUCY2D GUCA1A CRYAA CACNA1F ABCA4
48 lipid metabolism disorder 30.4 PON1 MIR21 MIR199A1 MIR17 MIR126 H2AC18
49 cerebrovascular disease 30.4 PON1 MIR9-1 MIR21 MIR199A1 MIR17 MIR126
50 myopathy 30.4 MIR9-1 MIR21 MIR199A1 MIR126 H2AC18 ERCC6

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 vision/eye MP:0005391 9.36 ABCA4 APC CACNA1F CRYAA ERCC6 GUCA1A

Drugs & Therapeutics for Retinal Disease

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

(show top 50) (show all 358)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
Mecobalamin Approved, Investigational Phase 4 13422-55-4
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 44475014
Acarbose Approved, Investigational Phase 4 56180-94-0 441184 444254
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
Benserazide Approved, Investigational Phase 4 322-35-0 2327
Ketamine Approved, Vet_approved Phase 4 6740-88-1, 1867-66-9 3821
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
Dipivefrin Approved Phase 4 52365-63-6 3105
Insulin glargine Approved Phase 4 160337-95-1 118984454
Latanoprost Approved, Investigational Phase 4 130209-82-4 5311221 5282380
Ranibizumab Approved Phase 4 347396-82-1
Racephedrine Approved, Experimental Phase 4 299-42-3, 90-82-4, 90-81-3 5032 9294 7028
Phenylephrine Approved Phase 4 59-42-7 6041
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
19 Grape Approved Phase 4
Clonidine Approved Phase 4 4205-91-8, 4205-90-7 2803 20179
Fenofibrate Approved Phase 4 49562-28-9 3339
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
Sorbitol Approved, Investigational Phase 4 69-65-8, 50-70-4 453 6251 5780
Tesamorelin Approved, Investigational Phase 4 218949-48-5 16137828
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 24892734 16212801 44176380
Cobalamin Experimental Phase 4 13408-78-1 6857388
2,4-thiazolidinedione Investigational Phase 4 2295-31-0 5437
29 Vitamin B6 Phase 4
30 Vitamin B12 Phase 4
31 Vitamin B 6 Phase 4
32 Vitamin B 12 Phase 4
33 Hematinics Phase 4
34 (T,G)-A-L Phase 4
35 Glatiramer Acetate Phase 4
36 Cardiac Glycosides Phase 4
37 Glycoside Hydrolase Inhibitors Phase 4
38 Immunoglobulins Phase 4
39 Antibodies Phase 4
40 Benserazide, levodopa drug combination Phase 4
41 Neuromuscular Blocking Agents Phase 4
42 Excitatory Amino Acid Antagonists Phase 4
43 Platelet Aggregation Inhibitors Phase 4
44 Anesthetics, Intravenous Phase 4
45 Anesthetics, Inhalation Phase 4
46 Anesthetics, General Phase 4
47 Anesthetics, Dissociative Phase 4
48 Hypnotics and Sedatives Phase 4
49 Immunoglobulins, Intravenous Phase 4
50 Immunoglobulin G Phase 4

Interventional clinical trials:

(show top 50) (show all 742)
# Name Status NCT ID Phase Drugs
1 CPAP Application at Delivery Room at Very Low Birth Weight Infants Unknown status NCT01024361 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 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
4 Efficacy of Calcium Dobesilate in Treating Chinese Patients With Mild to Moderate Non-proliferative Diabetic Retinopathy (CALM-DR): a Single-blind, Multicenter, Cluster-randomized, Controlled Trial Unknown status NCT04283162 Phase 4 Calcium Dobesilate
5 Evaluation of Lipid Lowering Agents on Diabetic Retinopathy and Cardiovascular Risk of Diabetic Patients Unknown status NCT04140201 Phase 4 Simvastatin 40mg;Fenofibrate 200mg;Omega 3 fatty acid
6 DEXTENZA VS. PREDNISOLONE ACETATE 1% in the Incidence of Pseudophakic Macular Edema in Patients With Diabetic Retinopathy Undergoing Cataract Surgery Unknown status NCT04362241 Phase 4 Prednisolone Acetate 1% Ophthalmic Suspension [PRED FORTE]
7 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)
8 Panretinal Photocoagulation for Proliferative Diabetic Retinopathy in a Single Session Using Low Fluence Parameters Unknown status NCT01023698 Phase 4
9 Increase in Capillary Plexus Density Level Following the Use of Ozurdex for the Treatment of DME (RMSM ICOD STUDY) Unknown status NCT04038125 Phase 4 Ozurdex Drug Implant Product
10 Prospective, Single-blind, Randomised, Controlled, Multi-centre Study to Evaluate the Benefit of Ranibizumab as an Adjunctive Therapy to Vitrectomy for Patients With Proliferative Diabetic Retinopathy Combined With Diabetic Macular Oedema Unknown status NCT04464694 Phase 4 Ranibizumab
11 Pattern Scan Laser System vs Regular Photocoagulation System: Changes in Macular Edema Post Treatment. Unknown status NCT00563628 Phase 4
12 Pattern Scan Laser System vs Regular Photocoagulation System: Changes in Electroretinograms and Contrast Sensitivity Post Treatment. Unknown status NCT00563043 Phase 4
13 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
14 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)
15 Different Day Regimes of Preoperative CONbercept Administration on CytokinEs of Proliferative Diabetic Retinopathy Patients Undergoing Vitrectomy: a Prospective Randomized Controlled Clinical Trial (CONCEPT) Unknown status NCT03506750 Phase 4 IVC
16 The Effects of Thiazolidinedione on the Diabetic Retinopathy and Nephropathy Unknown status NCT01175486 Phase 4 Actos (Pioglitazone);Acarbose
17 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
18 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 Completed NCT02874313 Phase 4 Pharmacological treatment
19 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
20 Effect of Levodopa on Human Multifocal Electroretinogram Completed NCT00812760 Phase 4 levodopa
21 Efficacy of Ranibizumab Therapy With Aflibercept in Patients With Diabetic Macular Edema Completed NCT02646670 Phase 4 Ranibizumab;Aflibercept;Ranibizumab and Aflibercept;Aflibercept and ranibizumab
22 DECREASING THE NEED FOR MECHANICAL VENTILATION AFTER RETINOPATHY OF PREMATURITY SURGERY: Sedation vs General Anesthesia Completed NCT01955135 Phase 4 Ketamine;Sevoflurane;propofol
23 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
24 Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage V. Completed NCT00500396 Phase 4
25 Effects of Fenofibrate on Endothelial Progenitor Cell Levels in Diabetic Patients With Retinopathy. A Randomized Controlled Trial. Completed NCT01927315 Phase 4 Fenofibrate 145 mg;Placebo
26 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
27 Pain Using Reduced Fluence Parameters in Photocoagulation for Diabetic Retinopathy. Completed NCT00802269 Phase 4
28 Investigator Initiated Observational Study of Intravitreal Aflibercept Injection in Subjects With Diabetic Macular Edema Previously Treated With Ranibizumab or Bevacizumab Completed NCT02559180 Phase 4 aflibercept
29 Efficacy and Safety of Mydriatic Microdrops Compared With Standard Drops for Retinopathy of Prematurity (ROP) Screening: a Pilot Randomized Clinical Trial Completed NCT04623684 Phase 4 Microdrop administration [phenylephrine 1.67% + tropicamide 0.33% (drop volume: 6-7 μL)];Standard drop administration [phenylephrine 1.67% + tropicamide 0.33% (drop volume: 28-34 μL)]
30 The Effect of Bevacizumab on Peripheral Retinal Changes as Imaged by Wide -Field Fluorescein Angiography in Diabetic Macular Edema Completed NCT02096874 Phase 4 Bevacizumab
31 Intravitreal Bevacizumab for Surgical Treatment of Severe Proliferative Diabetic Retinopathy Completed NCT01025934 Phase 4 Bevacizumab
32 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 Completed NCT02432547 Phase 4 Aflibercept
33 Different Conbercept Injection Methods in Treatment of Severe Proliferative Diabetic Retinopathy Completed NCT02816710 Phase 4 Conbercept
34 Evaluation of Diabetic Retinopathy Progression in Subjects With Type 2 Diabetes Mellitus Treated With Insulin Completed NCT00174824 Phase 4 Insulin glargine
35 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
36 Sucrose and Non Nutritive Suck as Analgesia for Babies Undergoing Retinopathy of Prematurity Screening; a Randomised Placebo Controlled Trial Completed NCT00921544 Phase 4
37 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
38 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
39 Topical Application of Latanoprost in Diabetic Retinopathy Completed NCT01225653 Phase 4 Latanoprost
40 Prospective, Single-center, Six-month Study of Intravitreal Ranibizumab for Macular Edema With Nonproliferative Diabetic Retinopathy: Effects on Microaneurysm Turnover and Non-perfused Retinal Area Completed NCT02834663 Phase 4 Lucentis
41 Intravitreal Bevacizumab for Proliferative Diabetic Retinopathy With New Dense Vitreous Hemorrhage After Full Panretinal Photocoagulation Completed NCT01724385 Phase 4 intravitreal injection of bevacizumab
42 A 52-week, Two Arm, Randomized, Open-label, Multicenter Study Assessing the Efficacy and Safety of Two Different Brolucizumab 6 mg Dosing Regimens for Patients With Suboptimal Anatomically Controlled Neovascular Age-related Macular Degeneration Recruiting NCT04679935 Phase 4
43 Efficacy and Safety of Mydriatic Microdrops for Retinopathy Of Prematurity Screening: a Non-inferiority Crossover Randomized Controlled Trial (MyMiROPS Trial) Recruiting NCT05043077 Phase 4 Microdrop administration of phenylephrine 1.67% and tropicamide 0.33%;Standard drop administration of phenylephrine 1.67% and tropicamide 0.33%
44 Peripheral Retinal Cryoapplication Versus Anti-VEGF Intravitreal Injection Before Vitrectomy for Complicated Proliferative Diabetic Retinopathy Recruiting NCT05514925 Phase 4 Bevacizumab Injection [Avastin]
45 Long-Term Efficacy and Safety of Intravitreal Aflibercept Injections for the Treatment of Diabetic Retinopathy for Subjects Who Completed the 2-Year PANORAMA Trial Recruiting NCT04708145 Phase 4 Aflibercept Injection
46 Clonidine as Pain Relief During ROP Eye Examinations Recruiting NCT04902859 Phase 4 Clonidine Oral Liquid Product;Sterile water
47 Department of Ophthalmology, Ruijin Hospital, Affiliated Medical School, Shanghai Jiaotong University Recruiting NCT05386160 Phase 4 Ranibizumab Injection [Lucentis]
48 A Multi-center, Randomized, Double-blind, Placebo-controlled, Superiority, Phase IV Trial to Evaluate the Efficacy and Safety of Entelon 50mg Compared to Placebo in Patients With Non-Proliferative Diabetic Retinopathy Recruiting NCT05358080 Phase 4 Entelon Tab. 50mg;Placebo
49 Macular Perfusion Changes in Proliferative Diabetic Retinopathy Following Anti-VEGF Therapy Versus Targeted and Pan-retinal Photocoagulation Using Optical Coherence Tomography Angiography Active, not recruiting NCT04674254 Phase 4 Bevacizumab Injection
50 A Randomised Placebo-controlled Trial of Fenofibrate to Prevent Progression of Non-proliferative Retinopathy in Diabetes Active, not recruiting NCT03439345 Phase 4 Fenofibrate 145 mg;Placebo Oral Tablet

Search NIH Clinical Center for Retinal Disease

Cochrane evidence based reviews: retinal diseases

Genetic Tests for Retinal Disease

Anatomical Context for Retinal Disease

Organs/tissues related to Retinal Disease:

FMA: Retina
MalaCards : Eye, Retina, Bone Marrow, Brain, Endothelial, Bone, Skin

Publications for Retinal Disease

Articles related to Retinal Disease:

(show top 50) (show all 7708)
# Title Authors PMID Year
Nanoparticles-mediated CRISPR-Cas9 gene therapy in inherited retinal diseases: applications, challenges, and emerging opportunities. 62 41
36463195 2022
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy. 62 41
36460718 2022
Ginsenoside protopanaxadiol protects adult retinal pigment epithelial-19 cells from chloroquine by modulating autophagy and apoptosis. 41
36454967 2022
Inflammation and retinal degenerative diseases. 62
36018156 2023
Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant. 62
36420180 2023
Neuroaxonal and cellular damage/protection by prostanoid receptor ligands, fatty acid derivatives and associated enzyme inhibitors. 62
35799502 2023
Patterns of NFkB activation resulting from damage, reactive microglia, cytokines, and growth factors in the mouse retina. 62
36174748 2023
Formulation and Evaluation of Polymer-Based Nanoparticles for Intravitreal Gene-Delivery Applications. 62
36469609 2022
Spatio-temporal optical coherence tomography provides full thickness imaging of the chorioretinal complex. 62
36419849 2022
36394884 2022
Construct Validity of Inherited Retinal Disease Specific Patient Reported Outcome Measures. 62
36470512 2022
New frontiers of retinal therapeutic intervention: a critical analysis of novel approaches. 62
35467460 2022
Phenotype-aware prioritisation of rare Mendelian disease variants. 62
35934592 2022
Subthreshold laser therapy guidelines for retinal diseases. 62
35739241 2022
The future of non-viral gene delivery for the treatment of inherited retinal diseases. 62
36381582 2022
Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis: 1-Year Clinical Results. 62
35781068 2022
The Prevalence of Retinal Disease and Associated CNS Disease in Young Patients with Incontinentia Pigmenti. 62
35691580 2022
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series. 62
36469668 2022
Nanoparticle-mediated gene therapy as a novel strategy for the treatment of retinoblastoma. 62
36252537 2022
Genetic Characteristics of Suspected Retinitis Pigmentosa in a Cohort of Chinese Patients. 62
36464167 2022
Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants. 62
36445968 2022
Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations. 62
35726567 2022
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling. 62
36191840 2022
A generation of human-induced pluripotent stem cell line (MUi032-A) from a Choroideremia disease patient carrying a hemizygous mutation on the CHM gene. 62
36395688 2022
Associations between age-related macular degeneration and sleep dysfunction: A systematic review. 62
36054031 2022
Nanomedicine and drug delivery to the retina: current status and implications for gene therapy. 62
36107200 2022
Recent trends and advances in fundus image analysis: A review. 62
36370579 2022
The Role of Angiopoietins in Neovascular Diabetes-Related Retinal Diseases. 62
36331711 2022
VEGF-targeting drugs for the treatment of retinal neovascularization in diabetic retinopathy. 62
35451900 2022
Deep Residual Network for Diagnosis of Retinal Diseases Using Optical Coherence Tomography Images. 62
35767116 2022
Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts. 62
36209838 2022
Ultra-widefield OCT Angiography. 62
36383595 2022
36269801 2022
Imaging diabetic retinal disease: clinical imaging requirements. 62
35142031 2022
Melatonin loaded hybrid nanomedicine: DoE approach, optimization and in vitro study on diabetic retinopathy model. 62
36115466 2022
Inflammation after Voretigene Neparvovec Administration in Patients with RPE65-Related Retinal Dystrophy. 62
35760216 2022
Effective treatment of intractable diseases using nanoparticles to interfere with vascular supply and angiogenic process. 62
36333816 2022
Human retinal dark adaptation tracked in vivo with the electroretinogram: insights into processes underlying recovery of cone- and rod-mediated vision. 62
35612091 2022
Delayed anti-VEGF injections during the COVID-19 pandemic and changes in visual acuity in patients with three common retinal diseases: A systematic review and meta-analysis. 62
35970234 2022
Zebrafish and inherited photoreceptor disease: Models and insights. 62
35811244 2022
P2X7-dependent immune pathways in retinal diseases. 62
36372269 2022
Characteristics of intermediate age-related macular degeneration with hyperreflective foci. 62
36319691 2022
Pluripotent Stem Cells in Clinical Cell Transplantation: Focusing on Induced Pluripotent Stem Cell-Derived RPE Cell Therapy in Age-Related Macular Degeneration. 62
36430270 2022
Retinal dystrophins and the retinopathy of Duchenne muscular dystrophy. 62
36404230 2022
Polygenic Liability to Alzheimer's Disease Is Associated with a Wide Range of Chronic Diseases: A Cohort Study of 312,305 Participants. 62
36442194 2022
Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE. 62
36413603 2022
The OCT angular sign of Henle fiber layer (HFL) hyperreflectivity (ASHH) and the pathoanatomy of the HFL in macular disease. 62
36333227 2022
A Descriptive Analysis of Unique Disability Identification Card (UDID)-Certified Visually Disabled Patients at a Tertiary Eye Care Center in Central India. 62
36475139 2022
Vertebrate Animal Models of RP59: Current Status and Future Prospects. 62
36362109 2022
The retinal pigmentation pathway in human albinism: Not so black and white. 62
35729001 2022

Variations for Retinal Disease

ClinVar genetic disease variations for Retinal Disease:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCA4 NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs) DUP Pathogenic
374183 rs1057518955 GRCh37: 1:94485158-94485159
GRCh38: 1:94019602-94019603
2 ABCA4 NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile) SNV Uncertain Significance
374182 rs1057518954 GRCh37: 1:94466418-94466418
GRCh38: 1:94000862-94000862
3 INPP1 NM_001128928.2(INPP1):c.70del (p.Gln24fs) DEL Uncertain Significance
619168 rs1575788223 GRCh37: 2:191224898-191224898
GRCh38: 2:190360172-190360172
4 NDC1 NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr) SNV Uncertain Significance
619169 rs1570193658 GRCh37: 1:54266482-54266482
GRCh38: 1:53800809-53800809
5 CEP290 NM_025114.4(CEP290):c.4438-3del DEL Uncertain Significance
449448 rs747323414 GRCh37: 12:88478632-88478632
GRCh38: 12:88084855-88084855
6 NEK9 NM_033116.6(NEK9):c.1505A>G (p.Tyr502Cys) SNV Likely Benign
619170 rs534245464 GRCh37: 14:75573228-75573228
GRCh38: 14:75106525-75106525
7 TENM4 NM_001098816.3(TENM4):c.1556G>A (p.Gly519Glu) SNV Likely Benign
619134 rs1591072819 GRCh37: 11:78565274-78565274
GRCh38: 11:78854229-78854229

Expression for Retinal Disease

Search GEO for disease gene expression data for Retinal Disease.

Pathways for Retinal Disease

Pathways directly related to Retinal Disease:

# Pathway Source
1 Retinoid cycle disease events Reactome 66
2 Diseases associated with visual transduction Reactome 66
3 Retinoid metabolism disease events Reactome 66

Pathways related to Retinal Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 MIR21 MIR20A MIR17
Show member pathways
11.15 MIR9-1 MIR20A MIR199A1 MIR17
3 10.72 MIR9-1 MIR21 MIR199A1 MIR126

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 RISC complex GO:0016442 10.03 MIR126 MIR17 MIR199A1 MIR20A MIR21 MIR9-1
2 cell projection GO:0042995 9.92 PRPH2 IMPG2 IMPG1 GUCY2D GUCA1A APC
3 interphotoreceptor matrix GO:0033165 9.67 IMPG2 IMPG1
4 extracellular vesicle GO:1903561 9.46 MIR21 MIR20A MIR17 MIR126
5 photoreceptor disc membrane GO:0097381 9.43 GUCY2D GUCA1A ABCA4
6 photoreceptor outer segment GO:0001750 9.36 PRPH2 IMPG1 GUCY2D GUCA1A CACNA1F ABCA4

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.89 MIR9-1 MIR21 MIR20A MIR199A1 MIR17
2 response to stimulus GO:0050896 9.85 PRPH2 GUCY2D GUCA1A CRYAA CACNA1F ABCA4
3 positive regulation of angiogenesis GO:0045766 9.81 MIR21 MIR20A MIR199A1 MIR126
4 positive regulation of vascular associated smooth muscle cell proliferation GO:1904707 9.65 MIR21 MIR20A MIR17
5 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.58 MIR21 MIR20A MIR199A1
6 visual perception GO:0007601 9.53 PRPH2 IMPG2 IMPG1 GUCY2D GUCA1A CRYAA
7 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 9.46 MIR21 MIR17
8 positive regulation of metalloendopeptidase activity GO:1904685 9.43 MIR21 MIR17
9 negative regulation of vascular endothelial growth factor production GO:1904046 9.43 MIR17 MIR199A1 MIR20A
10 miRNA-mediated gene silencing by inhibition of translation GO:0035278 9.35 MIR9-1 MIR21 MIR20A MIR17 MIR126
11 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.33 MIR20A MIR199A1 MIR17
12 positive regulation of pulmonary blood vessel remodeling GO:1905111 9.32 MIR20A MIR17

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

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR binding GO:0003730 9.43 MIR9-1 MIR21 MIR20A MIR199A1 MIR17 MIR126
2 mRNA base-pairing translational repressor activity GO:1903231 9.1 MIR9-1 MIR21 MIR20A MIR199A1 MIR17 MIR126

Sources for Retinal Disease

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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