MCID: RTN018
MIFTS: 49

Retinal Disease malady

Eye category

Summaries for Retinal Disease

Sources:
8Disease Ontology, 34MedlinePlus, 64Wikipedia, 33MalaCards
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MedlinePlus:34 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 blindness and congenital stationary night blindness. 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, and related mouse phenotypes are nervous system and vision/eye.

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

Wikipedia:64 The vertebrate retina (/ˈrɛtɪnə/ RET-nuh, pl. retinae, /ˈrɛtiniː/; from Latin rēte, meaning... more...

Aliases & Classifications for Retinal Disease

Sources:
8Disease Ontology, 45Novoseek, 64Wikipedia, 34MedlinePlus, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

retinal disease 8
retinal disorders 64 34
retinopathy 8 45
retinal diseases 61
retinal disorder 8
retina disorder 8


External Ids:

Disease Ontology8 DOID:5679
MeSH35 D012164
ICD9CM27 362.9

Related Diseases for Retinal Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 407)
idRelated DiseaseScoreTop Affiliating Genes
1blindness29.9RPE65, NDP, GUCY2D, NR2E3, NRL, AIPL1
2congenital stationary night blindness29.7NYX, RDH5, RPE65
3leber congenital amaurosis29.7RPE65, GUCY2D, NRL, AIPL1
4bardet-biedl syndrome29.7TRIM32, CCDC28B, BBS10
5age related macular degeneration29.7RS1
6rhyns syndrome29.6RS1, ROM1, AIPL1, RP9, RPE65, RDH5
7fundus albipunctatus29.6RDH5
8hypertensive retinopathy10.8
9pigmentary retinopathy10.7
10ischemic retinopathy10.7
11solar retinopathy10.7
12acute zonal occult outer retinopathy10.6
13diabetic nephropathy10.5
14background diabetic retinopathy10.4
15cerebral malaria10.4
16severe nonproliferative diabetic retinopathy10.3
17diabetic cataract10.3
18acute annular outer retinopathy10.3
19cystoid macular edema10.2
20norrie disease10.2
21vascular disease10.2
22retinopathy of prematurity10.2
23hereditary vascular retinopathy10.2
24kearns-sayre syndrome10.2
25rubeosis iridis10.2
26retinal vasculopathy with cerebral leukodystrophy10.2
27hereditary endotheliopathy, retinopathy, nephropathy, and stroke10.2
28type 1 diabetes10.2
29diabetes, type 210.2
30alport syndrome10.1
31small cell carcinoma10.1
32atherosclerosis10.1
33usher syndrome10.1
34eclampsia10.1
35retinal microaneurysm10.1
36exudative vitreoretinopathy10.1
37leukostasis10.1
38autonomic neuropathy10.1
39best1 retinopathy10.1
40retinopathy pigmentary mental retardation10.1
41diabetes mellitus, noninsulin-dependent10.1
42insulin resistance10.1
43cancer-associated retinopathy10.1
44vitreous disease10.1
45autoimmune-related retinopathy and optic neuropathy10.0
46coronary artery disease,10.0
47central retinal artery occlusion10.0
48hemoglobin d disease10.0
49hemoglobin c disease10.0
50acute pancreatitis10.0

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



Diseases related to retinal disease

Clinical Features for Retinal Disease

Drugs & Therapeutics for Retinal Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Retinal Disease

Sources:
14FMA
See all sources

FMA organs/tissues related to Retinal Disease:

14
The retina

Animal Models for Retinal Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Retinal Disease:

37
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

Sources:
51PubMed
See all sources

Articles related to Retinal Disease:

(show top 50)    (show all 641)
idTitleAuthorsYear
1
Greater Attenuation of Retinal Nerve Fiber Layer Thickness in Alzheimer's Disease Patients. (24413621)
2014
2
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. (23105016)
2013
3
Peripheral retinal nonperfusion in fellow eyes in coats disease. (23974953)
2013
4
Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank. (23078154)
2013
5
Retinal pigment epithelium folds as a diagnostic finding of Vogt-Koyanagi-Harada disease. (23149670)
2013
6
Successful outcome of adult-onset Coats' disease following retinal laser photocoagulation. (24379559)
2013
7
Regional morphology and pathophysiology of retinal vascular disease. (23892140)
2013
8
Molecular imaging of retinal disease. (23421501)
2013
9
Modeling of diseases of retinal ischemia in vitro: possible participation of autocrine vascular endothelial growth factor signaling. (23257772)
2013
10
Systems pharmacology identifies drug targets for Stargardt disease-associated retinal degeneration. (24231350)
2013
11
Pilot application of iTRAQ to the retinal disease Macular Telangiectasia. (22098468)
2012
12
Relationship of retinal vessel caliber to cardiovascular disease and mortality in African Americans with type 1 diabetes mellitus. (22652842)
2012
13
An evidence-based meta-analysis of vascular endothelial growth factor inhibition in pediatric retinal diseases: part 1. Retinopathy of prematurity. (22938516)
2012
14
OCT findings in birdshot chorioretinitis: a glimpse into retinal disease evolution. (22909176)
2012
15
Animal models of retinal disease. (21377628)
2011
16
Intravitreal bevacizumab injection for persistent serous retinal detachment associated with Vogt-Koyanagi-Harada disease. (20689964)
2011
17
Chronic kidney disease, early age-related macular degeneration, and peripheral retinal drusen. (22053834)
2011
18
Minor retinal degeneration in Parkinson's disease. (20933338)
2011
19
Macular ischaemia after intravitreal bevacizumab injection in patients with central retinal vein occlusion and a history of diabetes and vascular disease. (20215378)
2010
20
Localisation of opticin in human proliferative retinal disease. (20036236)
2010
21
Retinal ectopias and mechanically weakened basement membrane in a mouse model of muscle-eye-brain (MEB) disease congenital muscular dystrophy. (20680099)
2010
22
Role of the C terminus of the photoreceptor ABCA4 transporter in protein folding, function, and retinal degenerative diseases. (19056738)
2009
23
Chronic granulomatous disease presenting as retinal mass. (18939980)
2008
24
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. (18463160)
2008
25
Disease susceptibility of the human macula: differential gene transcription in the retinal pigmented epithelium/choroid. (17662275)
2007
26
Rebound macular edema following bevacizumab (Avastin) therapy for retinal venous occlusive disease. (17420693)
2007
27
Retinal angiomatosis in von Hippel-Lindau disease: a longitudinal ophthalmologic study. (16769118)
2006
28
Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature. (16123442)
2005
29
Retinal capillary hemangioma in von Hippel-Lindau disease. (16049535)
2005
30
Factor V Leiden mutation does not correlate with retinal vascular occlusion in white patients with BehAset's disease. (12881356)
2003
31
Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein. (12815067)
2003
32
Central retinal artery occlusion associated with ocular BehAset's disease. (12220006)
2002
33
Retinal diseases linked with photoreceptor guanylate cyclase. (11952088)
2002
34
Quantitative evaluation of fundus autofluorescence imaged "in vivo" in eyes with retinal disease. (10873986)
2000
35
Is successful gene therapy for retinal disease in sight? (11202971)
2000
36
Simple and complex ABCR: genetic predisposition to retinal disease. (10970771)
2000
37
Retinal abnormalities associated with a mutation of the nucleotide 683 in von Hippel-Lindau disease. (10955664)
2000
38
Cellular immune response to retinal S-antigen and interphotoreceptor retinoid-binding protein fragments in Eales' disease patients. (9873227)
1999
39
Levodopa-carbidopa and childhood retinal disease. (10530967)
1998
40
An index for estimating probabilities of surgical success for cataract patients with retinal disease. (2179391)
1990
41
Cataracts, chronic uveitis, and retinal vasculitis in BehAset's disease. (3826281)
1987
42
Antiphospholipid antibodies associated with retinal vascular disease. (3124231)
1987
43
Use of directly acquired digital fundus and fluorescein angiographic images in the diagnosis of retinal disease. (2448854)
1987
44
Optometry's role in retinal disease. (3950323)
1986
45
An approach to testing alternative hypotheses of changes in visual sensitivity due to retinal disease. (7085226)
1982
46
The use of a flash-on-flash paradigm to assess sensitivity changes due to retinal disease. (7085212)
1982
47
Schlerochorioretinal biopsy: an approach to tissue diagnosis and study of choroidal and retinal disease. (269541)
1977
48
Platelet aggregation studies in ischaemic retinal vascular disease. (5291525)
1971
49
A fluorescein angiographic study of macular dysfunction secondary to retinal vascular disease. VI. X-ray irradiation, carotid artery occlusion, collagen vascular disease, and vitritis. (5684309)
1968
50
A fluorescein angiographic study of macular dysfunction secondary to retinal vascular disease. IV. Diabetic retinal angiopathy. (5684307)
1968

Genetic Variations for Retinal Disease

Expression for genes affiliated with Retinal Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore
See all sources

Compounds for genes affiliated with Retinal Disease

Sources:
45Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Retinal Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
111-cis-retinol45 2411.5RDH5, RPE65
2vitamin a45 11 2412.2AIPL1, GUCY2D, RDH5, RPE65

GO Terms for genes affiliated with Retinal Disease

Sources:
16Gene Ontology
See all sources

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:00760110.9ROM1, RS1, AIPL1, NRL, NR2E3, GUCY2D
2phototransduction, visible lightGO:00760310.8GUCY2D, AIPL1, RPE65, OPN1LW, OPN1SW, RDH5
3retinoid metabolic processGO:00152310.7RDH5, RPE65, OPN1LW, OPN1SW
4phototransductionGO:00760210.7OPN1SW, NR2E3, CABP4
5regulation of rhodopsin gene expressionGO:00746810.6RPE65, NRL
6response to stimulusGO:05089610.6NYX, NRL, BBS10
7signal transductionGO:00716510.5OPN1SW, OPN1LW, NDP, NR2E3, CABP4
8retina homeostasisGO:00189510.5AIPL1, BBS10
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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  • Proteins
  • Lysates
  • Antibodies

Sources for Retinal Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet