Retinal Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: RTN018 MIFTS: 54	Retinal Disease Categories: Eye diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Other specified retinal disorders

Retinal disorder, unspecified

Retinal disorders in diseases classified elsewhere

External Ids:

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

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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.

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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:

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Symptoms & Phenotypes for Retinal Disease

UMLS symptoms related to Retinal Disease:

eye manifestations

MGI Mouse Phenotypes related to Retinal Disease:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye	MP:0005391	9.36	ABCA4 APC CACNA1F CRYAA ERCC6 GUCA1A

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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

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

Vitamin B6

Phase 4

Vitamin B12

Phase 4

Vitamin B 6

Phase 4

Vitamin B 12

Phase 4

Hematinics

Phase 4

(T,G)-A-L

Phase 4

Glatiramer Acetate

Phase 4

Cardiac Glycosides

Phase 4

Glycoside Hydrolase Inhibitors

Phase 4

Immunoglobulins

Phase 4

Antibodies

Phase 4

Benserazide, levodopa drug combination

Phase 4

Neuromuscular Blocking Agents

Phase 4

Excitatory Amino Acid Antagonists

Phase 4

Platelet Aggregation Inhibitors

Phase 4

Anesthetics, Intravenous

Phase 4

Anesthetics, Inhalation

Phase 4

Anesthetics, General

Phase 4

Anesthetics, Dissociative

Phase 4

Hypnotics and Sedatives

Phase 4

Immunoglobulins, Intravenous

Phase 4

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

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Genetic Tests for Retinal Disease

Sources

Anatomical Context for Retinal Disease

Organs/tissues related to Retinal Disease:

FMA: Retina

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

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Publications for Retinal Disease

Articles related to Retinal Disease:

(show top 50) (show all 7708)

#	Title	Authors	PMID	Year
1	Nanoparticles-mediated CRISPR-Cas9 gene therapy in inherited retinal diseases: applications, challenges, and emerging opportunities. ⁶² ⁴¹	Chien Y...Yang YP	36463195	2022
2	Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy. ⁶² ⁴¹	Karali M...Banfi S	36460718	2022
3	Ginsenoside protopanaxadiol protects adult retinal pigment epithelial-19 cells from chloroquine by modulating autophagy and apoptosis. ⁴¹	Lee H...Lee SJ	36454967	2022
4	Inflammation and retinal degenerative diseases. ⁶²	Kaur G...Singh NK	36018156	2023
5	Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant. ⁶²	Matsevich C...Beryozkin A	36420180	2023
6	Neuroaxonal and cellular damage/protection by prostanoid receptor ligands, fatty acid derivatives and associated enzyme inhibitors. ⁶²	Sharif NA	35799502	2023
7	Patterns of NFkB activation resulting from damage, reactive microglia, cytokines, and growth factors in the mouse retina. ⁶²	Palazzo I...Fischer AJ	36174748	2023
8	Formulation and Evaluation of Polymer-Based Nanoparticles for Intravitreal Gene-Delivery Applications. ⁶²	Lee D...Suk JS	36469609	2022
9	Spatio-temporal optical coherence tomography provides full thickness imaging of the chorioretinal complex. ⁶²	Auksorius E...Wojtkowski M	36419849	2022
10	ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR BIOSIMILARS IN OPHTHALMOLOGY. ⁶²	Kaiser PK...Holz FG	36394884	2022
11	Construct Validity of Inherited Retinal Disease Specific Patient Reported Outcome Measures. ⁶²	Jayasundera KT...Musch DC	36470512	2022
12	New frontiers of retinal therapeutic intervention: a critical analysis of novel approaches. ⁶²	Nanegrungsunk O...Sadda SR	35467460	2022
13	Phenotype-aware prioritisation of rare Mendelian disease variants. ⁶²	Kelly C...Cipriani V	35934592	2022
14	Subthreshold laser therapy guidelines for retinal diseases. ⁶²	Chhablani J...SOLS (Subthreshold Laser Ophthalmic Society) writing committee	35739241	2022
15	The future of non-viral gene delivery for the treatment of inherited retinal diseases. ⁶²	Sharma J...Paschalis EI	36381582	2022
16	Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis: 1-Year Clinical Results. ⁶²	Pennesi ME...XLRS-001 Study Group	35781068	2022
17	The Prevalence of Retinal Disease and Associated CNS Disease in Young Patients with Incontinentia Pigmenti. ⁶²	Danford ID...Campbell JP	35691580	2022
18	Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series. ⁶²	Marziali E...Bacci GM	36469668	2022
19	Nanoparticle-mediated gene therapy as a novel strategy for the treatment of retinoblastoma. ⁶²	Mandal M...Mandal M	36252537	2022
20	Genetic Characteristics of Suspected Retinitis Pigmentosa in a Cohort of Chinese Patients. ⁶²	Jin B...Yan M	36464167	2022
21	Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants. ⁶²	Cehajic-Kapetanovic J...MacLaren RE	36445968	2022
22	Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations. ⁶²	Poli G...Tuccinardi T	35726567	2022
23	Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling. ⁶²	Sallah SR...Black GCM	36191840	2022
24	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	Pongpaksupasin P...Tubsuwan A	36395688	2022
25	Associations between age-related macular degeneration and sleep dysfunction: A systematic review. ⁶²	Sia JT...Najjar RP	36054031	2022
26	Nanomedicine and drug delivery to the retina: current status and implications for gene therapy. ⁶²	Tawfik M...Sabel BA	36107200	2022
27	Recent trends and advances in fundus image analysis: A review. ⁶²	Iqbal S...Nawaz SJ	36370579	2022
28	The Role of Angiopoietins in Neovascular Diabetes-Related Retinal Diseases. ⁶²	Collazos-Aleman JD...Mendivil CO	36331711	2022
29	VEGF-targeting drugs for the treatment of retinal neovascularization in diabetic retinopathy. ⁶²	Arrigo A...Bandello F	35451900	2022
30	Deep Residual Network for Diagnosis of Retinal Diseases Using Optical Coherence Tomography Images. ⁶²	Asif S...Qurrat-Ul-Ain	35767116	2022
31	Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts. ⁶²	Huang D...Chen FK	36209838	2022
32	Ultra-widefield OCT Angiography. ⁶²	Niederleithner M...Schmoll T	36383595	2022
33	PUNCTATE INNER CHOROIDOPATHY-LIKE REACTIONS IN UNRELATED RETINAL DISEASES. ⁶²	Cicinelli MV...Battaglia Parodi M	36269801	2022
34	Imaging diabetic retinal disease: clinical imaging requirements. ⁶²	Schreur V...Peto T	35142031	2022
35	Melatonin loaded hybrid nanomedicine: DoE approach, optimization and in vitro study on diabetic retinopathy model. ⁶²	Romeo A...Musumeci T	36115466	2022
36	Inflammation after Voretigene Neparvovec Administration in Patients with RPE65-Related Retinal Dystrophy. ⁶²	Kessel L...Klemp K	35760216	2022
37	Effective treatment of intractable diseases using nanoparticles to interfere with vascular supply and angiogenic process. ⁶²	Hoseinzadeh A...Jangjou A	36333816	2022
38	Human retinal dark adaptation tracked in vivo with the electroretinogram: insights into processes underlying recovery of cone- and rod-mediated vision. ⁶²	Jiang X...Mahroo OA	35612091	2022
39	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	Im JHB...Yan P	35970234	2022
40	Zebrafish and inherited photoreceptor disease: Models and insights. ⁶²	Noel NCL...Hocking JC	35811244	2022
41	P2X7-dependent immune pathways in retinal diseases. ⁶²	Dechelle-Marquet PA...Delarasse C	36372269	2022
42	Characteristics of intermediate age-related macular degeneration with hyperreflective foci. ⁶²	Kikushima W...Kashiwagi K	36319691	2022
43	Pluripotent Stem Cells in Clinical Cell Transplantation: Focusing on Induced Pluripotent Stem Cell-Derived RPE Cell Therapy in Age-Related Macular Degeneration. ⁶²	Yang YP...Hwang DK	36430270	2022
44	Retinal dystrophins and the retinopathy of Duchenne muscular dystrophy. ⁶²	Barboni MTS...Vaillend C	36404230	2022
45	Polygenic Liability to Alzheimer's Disease Is Associated with a Wide Range of Chronic Diseases: A Cohort Study of 312,305 Participants. ⁶²	Wu BS...Yu JT	36442194	2022
46	Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE. ⁶²	Iwagawa T...Watanabe S	36413603	2022
47	The OCT angular sign of Henle fiber layer (HFL) hyperreflectivity (ASHH) and the pathoanatomy of the HFL in macular disease. ⁶²	Ramtohul P...Sarraf D	36333227	2022
48	A Descriptive Analysis of Unique Disability Identification Card (UDID)-Certified Visually Disabled Patients at a Tertiary Eye Care Center in Central India. ⁶²	Dhabarde KA...Kende RP	36475139	2022
49	Vertebrate Animal Models of RP59: Current Status and Future Prospects. ⁶²	Fliesler SJ...Pittler SJ	36362109	2022
50	The retinal pigmentation pathway in human albinism: Not so black and white. ⁶²	Bakker R...Bergen AA	35729001	2022

Sources

Genes for Retinal Disease

Genes related to Retinal Disease (1 elite genes):

(show top 50) (show all 106)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	408.89	Pathogenic ⁵ DISEASES inferred ¹⁴
2	PRPH2	Peripherin 2	Protein Coding	23.58	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
3	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	23.32	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
4	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	22.59	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
5	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	22.29	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
6	IMPG2	Interphotoreceptor Matrix Proteoglycan 2	Protein Coding	13.17	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
7	IMPG1	Interphotoreceptor Matrix Proteoglycan 1	Protein Coding	12.91	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
8	WDR17	WD Repeat Domain 17	Protein Coding	12.3	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
9	CRYAA	Crystallin Alpha A	Protein Coding	12.04	DISEASES inferred ¹⁴ ¹⁴
10	PON1	Paraoxonase 1	Protein Coding	11.94	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
11	H2AC18	H2A Clustered Histone 18	Protein Coding	11.86	DISEASES inferred ¹⁴ ¹⁴
12	CFHR2	Complement Factor H Related 2	Protein Coding	10.93	DISEASES inferred ¹⁴ ¹⁴
13	MIR17	MicroRNA 17	RNA Gene	10.48	DISEASES inferred ¹⁴ ¹⁴
14	MIR21	MicroRNA 21	RNA Gene	10.46	DISEASES inferred ¹⁴ ¹⁴
15	MIR126	MicroRNA 126	RNA Gene	10.05	DISEASES inferred ¹⁴ ¹⁴
16	MIR199A1	MicroRNA 199a-1	RNA Gene	10.03	DISEASES inferred ¹⁴ ¹⁴
17	MIR9-1	MicroRNA 9-1	RNA Gene	9.88	DISEASES inferred ¹⁴ ¹⁴
18	MIR20A	MicroRNA 20a	RNA Gene	9.86	DISEASES inferred ¹⁴ ¹⁴
19	APC	APC Regulator Of WNT Signaling Pathway	Protein Coding	9.69	DISEASES inferred ¹⁴ ¹⁴
20	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	9.69	DISEASES inferred ¹⁴ ¹⁴
21	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	9.6	DISEASES inferred ¹⁴
22	MIR204	MicroRNA 204	RNA Gene	9.5	DISEASES inferred ¹⁴ ¹⁴
23	MIR675	MicroRNA 675	RNA Gene	9.48	DISEASES inferred ¹⁴ ¹⁴
24	MIR140	MicroRNA 140	RNA Gene	9.44	DISEASES inferred ¹⁴ ¹⁴
25	MIR30A	MicroRNA 30a	RNA Gene	9.43	DISEASES inferred ¹⁴ ¹⁴
26	RHO	Rhodopsin	Protein Coding	9.42	DISEASES inferred ¹⁴
27	KDM4C	Lysine Demethylase 4C	Protein Coding	9.41	DISEASES inferred ¹⁴ ¹⁴
28	MIR142	MicroRNA 142	RNA Gene	9.39	DISEASES inferred ¹⁴ ¹⁴
29	MIR29B1	MicroRNA 29b-1	RNA Gene	9.31	DISEASES inferred ¹⁴ ¹⁴
30	MIR125A	MicroRNA 125a	RNA Gene	9.26	DISEASES inferred ¹⁴ ¹⁴
31	MIR27A	MicroRNA 27a	RNA Gene	9.14	DISEASES inferred ¹⁴ ¹⁴
32	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	9.12	DISEASES inferred ¹⁴
33	SERPINA3	Serpin Family A Member 3	Protein Coding	9.07	DISEASES inferred ¹⁴ ¹⁴
34	MIR214	MicroRNA 214	RNA Gene	9.02	DISEASES inferred ¹⁴ ¹⁴
35	MIR146A	MicroRNA 146a	RNA Gene	9.01	DISEASES inferred ¹⁴ ¹⁴
36	MIR15A	MicroRNA 15a	RNA Gene	9.01	DISEASES inferred ¹⁴ ¹⁴
37	MIR155	MicroRNA 155	RNA Gene	9	DISEASES inferred ¹⁴ ¹⁴
38	MIR361	MicroRNA 361	RNA Gene	8.98	DISEASES inferred ¹⁴ ¹⁴
39	MIR106B	MicroRNA 106b	RNA Gene	8.94	DISEASES inferred ¹⁴ ¹⁴
40	MIR335	MicroRNA 335	RNA Gene	8.92	DISEASES inferred ¹⁴ ¹⁴
41	CDK4	Cyclin Dependent Kinase 4	Protein Coding	8.89	DISEASES inferred ¹⁴
42	TP53	Tumor Protein P53	Protein Coding	8.85	DISEASES inferred ¹⁴
43	U2AF1	U2 Small Nuclear RNA Auxiliary Factor 1	Protein Coding	8.82	DISEASES inferred ¹⁴ ¹⁴
44	MIR132	MicroRNA 132	RNA Gene	8.77	DISEASES inferred ¹⁴ ¹⁴
45	CFH	Complement Factor H	Protein Coding	8.77	DISEASES inferred ¹⁴
46	MIR20B	MicroRNA 20b	RNA Gene	8.73	DISEASES inferred ¹⁴ ¹⁴
47	RBL1	RB Transcriptional Corepressor Like 1	Protein Coding	8.71	DISEASES inferred ¹⁴
48	RB1	RB Transcriptional Corepressor 1	Protein Coding	8.68	DISEASES inferred ¹⁴
49	MIR25	MicroRNA 25	RNA Gene	8.6	DISEASES inferred ¹⁴ ¹⁴
50	MIR196A1	MicroRNA 196a-1	RNA Gene	8.58	DISEASES inferred ¹⁴ ¹⁴

Sources

Variations for Retinal Disease

ClinVar genetic disease variations for Retinal Disease:

⁵

#	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

Sources

Expression for Retinal Disease

Search GEO for disease gene expression data for Retinal Disease.

Sources

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	miRNAs involved in DNA damage response ⁷⁴	11.16	MIR21 MIR20A MIR17
2	Cell differentiation - expanded index ⁷⁴ Show member pathways Cell differentiation - index ⁷⁴	11.15	MIR9-1 MIR20A MIR199A1 MIR17
3	miRNAs involvement in the immune response in sepsis ⁷⁴	10.72	MIR9-1 MIR21 MIR199A1 MIR126

Sources

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