MCID: RTN018
MIFTS: 58

Retinal Disease malady

Eye diseases category

Summaries for Retinal Disease

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Sources:
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, 44Novoseek, 63Wikipedia, 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, Bone, Liver, Thyroid, Placenta, Bone marrow

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:000363110.6CABP4, NDP, OPN1SW, GUCY2D, USH1G, NR2E3
2MP:000539110.3RS1, RPE65, CABP4, NDP, RDH5, OPN1SW

Publications for Retinal Disease

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50PubMed
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Articles related to Retinal Disease:

(show top 50)    (show all 716)
idTitleAuthorsYear
1
Clinical characteristics of early retinal disease due to CDHR1 mutation. (24265541)
2013
2
Identification and analysis of inherited retinal disease genes. (23150357)
2013
3
Computer assisted evaluation of retinal vessels tortuosity in Fabry disease. (23164241)
2013
4
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. (23150612)
2012
5
Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. (21738648)
2011
6
Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt? (21377364)
2011
7
Macular ischaemia after intravitreal bevacizumab injection in patients with central retinal vein occlusion and a history of diabetes and vascular disease. (20215378)
2010
8
Localisation of opticin in human proliferative retinal disease. (20036236)
2010
9
Cytomegalovirus retinitis: the neglected disease of the AIDS pandemic. (18052600)
2007
10
Intravitreal steroids may facilitate treatment of Eales' disease (idiopathic retinal vasculitis): an interventional case series. (16980931)
2007
11
Ca2+ channels in retinal pigment epithelial cells regulate vascular endothelial growth factor secretion rates in health and disease. (17417605)
2007
12
Intravitreal pharmacotherapy: applications in retinal disease. (18201513)
2007
13
Retinal dysfunction in patients with chronic Chagas' disease is associated to anti-Trypanosoma cruzi antibodies that cross-react with rhodopsin. (16423878)
2006
14
Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5. (16600989)
2006
15
Expression of HB-EGF by retinal pigment epithelial cells in vitreoretinal proliferative disease. (17050278)
2006
16
Functional aspects of the somatostatinergic system in the retina and the potential therapeutic role of somatostatin in retinal disease. (15736065)
2005
17
Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases. (14758335)
2004
18
Meta-analysis of plasma homocysteine, serum folate, serum vitamin B(12), and thermolabile MTHFR genotype as risk factors for retinal vascular occlusive disease. (14644226)
2003
19
Bilateral cytomegalovirus retinitis in a patient with systemic lupus erythematosus and end-stage renal disease. (14601702)
2003
20
Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14. (12054608)
2002
21
The eye photoreceptor protein rhodopsin. Structural implications for retinal disease. (12297272)
2002
22
Generating mouse models of retinal disease using ENU mutagenesis. (11853764)
2002
23
Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. (11687513)
2001
24
Retinal masqueraders of optic nerve disease. (11370571)
2001
25
Multiple recurrences of exudative retinal detachment in a patient with Vogt-Koyanagi-Harada disease. (11131425)
2000
26
Long-term results of laser treatment for retinal angiomatosis in von Hippel-Lindau disease. (10720563)
2000
27
Anti-MHC autoimmunity in BehAset's disease: T cell responses to an HLA-B-derived peptide cross-reactive with retinal-S antigen in patients with uveitis. (10759778)
2000
28
Branch retinal artery occlusion in systemic diseases: a case report. (10355155)
1999
29
Expression of placenta growth factor (PIGF) in ischaemic retinal diseases. (10624438)
1999
30
Association of antiphospholipid antibodies with retinal vascular disease in systemic lupus erythematosus. (10342390)
1999
31
Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease. (9743540)
1998
32
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. (9425888)
1998
33
Cloning and characterization of human homologue of Drosophila retinal degeneration B: a candidate gene for degenerative retinal diseases. (9216063)
1997
34
Examination and treatment of patients with pediatric retinal disease. (9143051)
1997
35
Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease. (9007328)
1996
36
Bilateral optic disc edema and multifocal retinal lesions without loss of vision in cat scratch disease. (8694710)
1996
37
Formation of immunochemical advanced glycosylation end products precedes and correlates with early manifestations of renal and retinal disease in diabetes. (7789650)
1995
38
Adult Coats' disease in branch retinal vein occlusion. (7818879)
1994
39
New ophthalmic lasers for the evaluation and treatment of retinal disease. (8260150)
1993
40
Serum alpha-1 acid glycoprotein levels in patients with idiopathic peripheral retinal vasculitis (Eales' disease). (1414297)
1992
41
Vitronectin and fibronectin receptors in proliferative retinal diseases]. (1698696)
1990
42
Humoral and cellular immune reactions against retinal antigens in clinical disease. (2200648)
1990
43
Color vision defects in retinal disease. (2786407)
1989
44
Initial clinical experience using a diode laser in the treatment of retinal vascular disease. (2630328)
1989
45
Ultrasonic patterns in vitreo-retinal disease. (7116781)
1982
46
Spontaneous regression of retinal lesions in Coats' disease. (7127201)
1982
47
Occult retinitis pigmentosa simulating central nervous system disease. (677670)
1978
48
Evolution of hypertensive retinal vascular disease: correlation between clinical and postmortem observations. (4748590)
1973
49
Visual field defects in retinal disease. (5397392)
1969
50
RETINAL PHLEBITIS AND SINUS DISEASE. (14189703)
1963

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