MCID: RTN018
MIFTS: 58

Retinal Disease malady

Eye diseases category

Summaries for Retinal Disease

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8Disease Ontology, 33MedlinePlus, 63Wikipedia, 32MalaCards
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MedlinePlus:33 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 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: Retinal Disease, also known as retinal disorders, is related to retinitis and eye disease. An important gene associated with Retinal Disease is AIPL1 (aryl hydrocarbon receptor interacting protein-like 1), and among its related pathways are Visual phototransduction and Visual Cycle in Retinal Rods. The compounds 11-cis-retinol and vitamin a have been mentioned in the context of this disorder. Affiliated tissues include the retina, retina and eye, and related mouse phenotypes are nervous system and vision/eye.

Disease Ontology:8 An eye disease that is located in the retina.

Wikipedia:63 The vertebrate retina (/ˈrɛtɪnə/ RET-nuh, pl. retinae, /ˈrɛtiniː/; from Latin rēte, meaning... more...

Aliases & Classifications for Retinal Disease

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Sources:
8Disease Ontology, 63Wikipedia, 44Novoseek, 33MedlinePlus, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Aliases & Descriptions:

retinal disease 8
retinal disorders 63 33
retinopathy 8 44
retinal diseases 60
retinal disorder 8
retina disorder 8


External Ids:

Disease Ontology8 DOID:5679
MeSH34 D012164
ICD9CM27 362.9

Related Diseases for Retinal Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Retinal Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 486)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis31.5RDH5
2eye disease30.3RS1, NDP
3retinal degeneration30.2RPE65, RDH5, GUCY2D, NR2E3, NRL, AIPL1
4retinal vascular disease30.2AIPL1, NDP
5age related macular degeneration30.0RS1
6night blindness29.9RPE65, CABP4, RDH5, NR2E3, NYX
7fundus albipunctatus29.9RDH5
8bardet-biedl syndrome29.8TRIM32, CCDC28B, BBS10
9cone-rod dystrophy 229.7AIPL1, GUCY2D, RPE65
10congenital stationary night blindness29.7NYX, RDH5, RPE65
11goldmann-favre syndrome29.7NRL, NR2E3
12retinoschisis29.7RS1
13leber congenital amaurosis29.7RPE65, GUCY2D, NRL, AIPL1
14coats disease29.7NDP
15rhyns syndrome29.6RS1, ROM1, AIPL1, RP9, RPE65, RDH5
16hypertensive retinopathy10.8
17hypertension10.8
18ischemic retinopathy10.7
19solar retinopathy10.6
20neuropathy10.5
21type 1 diabetes mellitus10.4
22background diabetic retinopathy10.4
23diabetic neuropathy10.4
24cerebritis10.4
25malaria10.4
26cerebral malaria10.4
27severe nonproliferative diabetic retinopathy10.3
28retinal cancer10.3
29lung cancer10.3
30diabetic cataract10.2
31cystoid macular edema10.2
32ischemia10.2
33malignant hypertension10.2
34melanoma10.2
35autoimmune retinopathy10.2
36cataract10.1
37vascular disease10.1
38kearns-sayre syndrome10.1
39macular holes10.1
40rubeosis iridis10.1
41proteinuria10.1
42retinal vein occlusion10.1
43acute zonal occult outer retinopathy10.1
44retinal vasculopathy with cerebral leukodystrophy10.1
45hereditary endotheliopathy, retinopathy, nephropathy, and stroke10.1
46alport syndrome10.1
47small cell carcinoma10.1
48atherosclerosis10.1
49hyperglycemia10.1
50obesity10.1

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



Diseases related to retinal disease

Clinical Features for Retinal Disease

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Drugs & Therapeutics for Retinal Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Retinal Disease

Drug clinical trials:

Search ClinicalTrials for Retinal Disease

Search NIH Clinical Center for Retinal Disease

Search CenterWatch for Retinal Disease

Genetic Tests for Retinal Disease

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Anatomical Context for Retinal Disease

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Sources:
32MalaCards, 14FMA
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MalaCards organs/tissues related to Retinal Disease:

32
Retina, Eye, Brain, Testes, Endothelial, Kidney, T cells, Thyroid, Bone marrow, Placenta, Liver, Bone

FMA organs/tissues related to Retinal Disease:

14
The retina

Animal Models for Retinal Disease or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Retinal Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363110.6RPE65, ROM1, TRIM32, AIPL1, NRL, NR2E3
2MP:000539110.3RPE65, ROM1, AIPL1, NRL, NR2E3, USH1G

Publications for Retinal Disease

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Sources:
50PubMed
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Articles related to Retinal Disease:

(show top 50)    (show all 716)
idTitleAuthorsYear
1
Detecting the Progression of Eye Disease: CUSUM Charts for Assessing the Visual Field and Retinal Nerve Fiber Layer Thickness. (24083087)
2013
2
Comparison of visual evoked potentials and retinal nerve fiber layer thickness in Alzheimer's disease. (24379800)
2013
3
Retinal venular calibre is increased in patients with autoimmune rheumatic disease: a case-control study. (23654356)
2013
4
Tuberculoid leprosy and cytomegalovirus retinitis as immune restoration disease in a patient with AIDS. (22169463)
2012
5
Electrical stimulation--a therapeutic strategy for retinal and optic nerve disease? (22282217)
2012
6
Understanding rhodopsin mutations linked to the retinitis pigmentosa disease: a QM/MM and DFT/MRCI study. (22126625)
2012
7
Functional Analysis of Retinal Flecks in Stargardt Disease. (24409374)
2012
8
Central retinal artery occlusion in Crohn disease. (22824494)
2012
9
Long-term retinal, renal and cardiovascular outcomes in diabetic chronic kidney disease without proteinuria. (21669884)
2012
10
Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa. (21224835)
2011
11
Delivery of anti-angiogenic molecular therapies for retinal disease. (20184967)
2010
12
Pediatric retinal detachment due to Coats' disease diagnosed with bedside emergency department ultrasound. (18226872)
2009
13
Retinal vascular signs and cerebrovascular disease. (19426407)
2009
14
Localised retinal vasculitis in cat scratch disease. (21686569)
2009
15
Genetic diseases of the retinal pigment epithelium]. (19343351)
2009
16
The Y402H variant of complement factor H is associated with age-related macular degeneration but not with diabetic retinal disease in the Go-DARTS study. (19646183)
2009
17
A review of the role of glial cells in understanding retinal disease. (18045252)
2008
18
Hereditary retinal disease. (18408503)
2008
19
RAGE and its ligands in retinal disease. (18331234)
2007
20
Molecular testing for hereditary retinal disease as part of clinical care. (17296903)
2007
21
Angiogenesis and retinal diseases]. (17768570)
2007
22
Pharmacologic manipulation of sphingosine kinase in retinal endothelial cells: implications for angiogenic ocular diseases. (17065523)
2006
23
Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature. (16123442)
2005
24
Incidence of patients presenting with exudative maculopathy and neovascular retinal disease in an urban population. (15628644)
2004
25
Retinal angioma associated with von Hippel-Lindau disease. (12767254)
2003
26
Serum levels of chemokines correlate with disease activity in patients with retinal vasculitis. (14611909)
2003
27
Retinal function in the von Hippel-Lindau disease. (12737505)
2003
28
Retinal diseases linked with photoreceptor guanylate cyclase. (11952088)
2002
29
Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes. (11733058)
2001
30
Characterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus. (11418621)
2001
31
Prevalence of AIPL1 mutations in inherited retinal degenerative disease. (10873396)
2000
32
Scanning laser entoptic perimetry for the screening of macular and peripheral retinal disease. (10980765)
2000
33
Bilateral central retinal artery occlusion secondary to sickle cell disease. (10815797)
2000
34
Cellular immune response to retinal S-antigen and interphotoreceptor retinoid-binding protein fragments in Eales' disease patients. (9873227)
1999
35
Molecular genetics of human retinal disease. (10690405)
1999
36
Retinal tears associated with panuveitis and BehAset's disease. (10574500)
1999
37
Cystoid macular oedema and cytomegalovirus retinitis in patients with HIV disease treated with highly active antiretroviral therapy. (10209434)
1999
38
Antiphospholipid antibodies and retinal vascular disease. (8869905)
1996
39
Cyclosporine effects on optic nerve and retinal vasculitis in BehAset's disease. (1425128)
1992
40
The tunable dye laser in the management of retinal vascular disease. (3229908)
1988
41
Antiphospholipid antibodies associated with retinal vascular disease. (3124231)
1987
42
Contrast sensitivity versus visual acuity in retinal disease. (3487345)
1986
43
Retinal vasculitis in mixed connective tissue disease. A fluoroangiographic study. (4093917)
1985
44
Anti-retinal auto-antibodies in Vogt-Koyanagi-Harada syndrome, Behcet's disease, and sympathetic ophthalmia. (3900848)
1985
45
Retinitis pigmentosa, unilateral Coats's disease, and thalassemia minor--a case report. (7289686)
1981
46
Argon laser photocoagulation treatment for retinal disease. (1036454)
1976
47
Dimethyl sulfoxide in the treatment of retinal disease. (1055562)
1975
48
Platelet aggregation studies in ischaemic retinal vascular disease. (5291525)
1971
49
Pigmentary retinal lipoid neuronal heredodegeneration (Spielmeyer-Vogt disease); further observations on the presence of vacuolized lymphocytes. (13508309)
1957
50
Pigmentary retinal lipoid neuronal heredodegeneration (Spielmeyer-Vogt disease). (13330663)
1956

Genetic Variations for Retinal Disease

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Expression for genes affiliated with Retinal Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinal Disease

Search GEO for disease gene expression data for Retinal Disease.

Pathways for genes affiliated with Retinal Disease

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Sources:
53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Retinal Disease

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Sources:
44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Retinal Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
111-cis-retinol44 2411.5RDH5, RPE65
2vitamin a44 11 2412.2AIPL1, GUCY2D, RDH5, RPE65

GO Terms for genes affiliated with Retinal Disease

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16Gene Ontology
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Cellular components related to Retinal Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segment membraneGO:04262210.5ROM1, OPN1LW, OPN1SW

Biological processes related to Retinal Disease according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00760110.9RS1, BBS10, RPE65, CABP4, NDP, RDH5
2phototransduction, visible lightGO:00760310.8RPE65, RDH5, OPN1SW, OPN1LW, GUCY2D, AIPL1
3retinoid metabolic processGO:00152310.7RPE65, RDH5, OPN1SW, OPN1LW
4phototransductionGO:00760210.7NR2E3, OPN1SW, CABP4
5regulation of rhodopsin gene expressionGO:00746810.6RPE65, NRL
6response to stimulusGO:05089610.6NYX, NRL, BBS10
7signal transductionGO:00716510.5NDP, OPN1SW, OPN1LW, NR2E3, CABP4
8retina homeostasisGO:00189510.5BBS10, AIPL1
9protein-chromophore linkageGO:01829810.4OPN1LW, OPN1SW
10photoreceptor cell maintenanceGO:04549410.2USH1G, BBS10

Molecular functions related to Retinal Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor activityGO:00988110.5OPN1LW, OPN1SW

Products for genes affiliated with Retinal Disease

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  • Antibodies
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  • Antibodies

Sources for Retinal Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet