MCID: RTN018
MIFTS: 48

Retinal Disease malady

Eye diseases category

Summaries for Retinal Disease

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Sources:
9Disease Ontology, 35MedlinePlus, 66Wikipedia, 34MalaCards
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MedlinePlus:35 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: Retinal Disease, also known as retinal disorders, is related to usher syndrome and congenital stationary night blindness. An important gene associated with Retinal Disease is PDZD7 (PDZ domain containing 7), and among its related pathways are Visual Cycle in Retinal Rods and Diseases associated with visual transduction. Affiliated tissues include the retina, retina and eye, and related mouse phenotypes are nervous system and vision/eye.

Disease Ontology:9 An eye disease that is located in the retina.

Wikipedia:66 The vertebrate retina (/?r?t?n?/ RET-i-n?, pl. retinae, /?r?tini?/; from Latin r?te, meaning \"net\") is... more...

Aliases & Classifications for Retinal Disease

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Sources:
9Disease Ontology, 66Wikipedia, 35MedlinePlus, 63UMLS, 28ICD9CM, 59SNOMED-CT, 41NCIt, 36MeSH, 26ICD10
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Related Diseases for Retinal Disease

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Retinal Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome30.1PDZD7, USH1G
2congenital stationary night blindness29.9NYX
3blindness29.9NRL, AIPL1
4retinal degeneration29.8ROM1, NRL, AIPL1
5leber congenital amaurosis29.6NRL, AIPL1
6retinitis10.9
7cataract10.1
8diabetic retinopathy10.1
9endotheliitis10.1
10congenital nystagmus10.1CABP4, CCDC28B
11fundus dystrophy10.0AIPL1, ROM1
12fundus albipunctatus10.0
13vitelliform macular dystrophy10.0
14exudative vitreoretinopathy10.0
15age related macular degeneration10.0
16choroiditis10.0
17glaucoma10.0
18bardet-biedl syndrome10.0BBS10, CCDC28B
19night blindness10.0NYX, CABP4, GNAT1
20rhyns syndrome9.9USH1G, ROM1, AIPL1, NRL
21retinitis pigmentosa9.9
22retinopathy of prematurity9.9
23macular dystrophy9.9
24retinal disease in usher syndrome type iia, modifier of9.9
25spasmus nutans9.9
26stargardt disease9.8
27pseudoxanthoma elasticum9.8
28diabetic macular edema9.8
29hereditary retinal dystrophy9.8
30bestrophinopathy9.8
31bothnia retinal dystrophy9.8
32degeneration of macula and posterior pole9.8
33eye disease9.8
34peripheral retinal degeneration9.8
35retinoschisis9.8
36type 2 diabetes mellitus9.8
37x-linked congenital stationary night blindness9.8
38cone-rod dystrophy 29.8
39cone-rod dystrophy amelogenesis imperfecta9.8
40doyne honeycomb retinal dystrophy9.8
41eales disease9.8
42goldmann-favre syndrome9.8
43joubert syndrome 29.8
44norrie disease9.8
45north carolina macular dystrophy9.8
46posterior column ataxia with retinitis pigmentosa9.8
47retinal cone dystrophy 3b9.8
48snowflake vitreoretinal degeneration9.8
49spondylometaphyseal dysplasia with cone-rod dystrophy9.8
50usher syndrome type 2a9.8

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



Diseases related to retinal disease

Symptoms for Retinal Disease

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Drugs & Therapeutics for Retinal Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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:
34MalaCards, 15FMA
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MalaCards organs/tissues related to Retinal Disease:

34
Retina, Eye, Brain, Testes, Endothelial, Placenta, T cells

FMA organs/tissues related to Retinal Disease:

15
The retina

Animal Models for Retinal Disease or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Retinal Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.3USH1G, GNAT1, CABP4, ROM1, NRL, OPN1SW
2MP:00053916.5OPN1SW, AIPL1, USH1G, GNAT1, NYX, CABP4

Publications for Retinal Disease

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Sources:
53PubMed
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Articles related to Retinal Disease:

(show top 50)    (show all 236)
idTitleAuthorsYear
1
Clinical characteristics of early retinal disease due to CDHR1 mutation. (24265541)
2013
2
Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank. (23078154)
2013
3
Clinical features of retinal diseases masquerading as retrobulbar optic neuritis. (24033953)
2013
4
Increased levels of gene therapy may not be beneficial in retinal disease. (23553840)
2013
5
SIRT1 activation protects against autoimmune T cell-driven retinal disease in mice via inhibition of IL-2/Stat5 signaling. (23395551)
2013
6
Gene therapy for retinal disease. (23305707)
2013
7
Association of vaginal delivery efforts with retinal disease in women with type I diabetes. (21957876)
2012
8
Expression of PRPF31 and TFPT: regulation in health and retinal disease. (22723017)
2012
9
Pilot application of iTRAQ to the retinal disease Macular Telangiectasia. (22098468)
2012
10
A new efficient protocol for directed differentiation of retinal pigmented epithelial cells from normal and retinal disease induced pluripotent stem cells. (22145677)
2012
11
Zebrafish: a model system for the investigation of novel treatments for retinal disease. (22183358)
2012
12
Animal models of retinal disease. (21377628)
2011
13
mTOR pathway activation in age-related retinal disease. (21483039)
2011
14
Current drug patenting for retinal diseases: beyond VEGF inhibitors. (20024845)
2010
15
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. (20440071)
2010
16
Bitemporal hemianopia caused by retinal disease. (20008732)
2009
17
Impact of retinal disease-associated RPE65 mutations on retinoid isomerization. (18722466)
2008
18
RAGE and its ligands in retinal disease. (18331234)
2007
19
Stem cells: a source for neuron repair in retinal disease. (17508042)
2007
20
Galectin-1 suppresses autoimmune retinal disease by promoting concomitant Th2- and T regulatory-mediated anti-inflammatory responses. (16670344)
2006
21
Fundus autofluorescence in children and teenagers with hereditary retinal diseases. (16034607)
2006
22
Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds. (17249567)
2006
23
Upregulation of RAGE and its ligands in proliferative retinal disease. (16364297)
2006
24
Functional aspects of the somatostatinergic system in the retina and the potential therapeutic role of somatostatin in retinal disease. (15736065)
2005
25
Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl. (15163632)
2004
26
Diagnostic imaging of retinal disease. (15577561)
2004
27
Elevated erythropoietin in vitreous with ischemic retinal diseases. (15073535)
2004
28
Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14. (12054608)
2002
29
Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans. (11420621)
2001
30
Emotional distress in patients with retinal disease. (11336932)
2001
31
Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes. (11733058)
2001
32
Retinal disease in patients with systemic lupus erythematosus. (10976084)
2000
33
Platelet-derived growth factor and basic fibroblast growth factor immunolocalized in proliferative retinal diseases. (11775539)
2000
34
Matrix and the retinal pigment epithelium in proliferative retinal disease. (9932282)
1999
35
Quantitative eye and head movement recordings of retinal disease mimicking spasmus nutans. (7872404)
1995
36
Platelet-derived growth factor ligands and receptors immunolocalized in proliferative retinal diseases. (8088954)
1994
37
New ophthalmic lasers for the evaluation and treatment of retinal disease. (8260150)
1993
38
Photoreceptor cell rescue at early and late RPE-cell transplantation periods during retinal disease in RCS dystrophic rats. (1868118)
1991
39
Color vision defects in retinal disease. (2786407)
1989
40
Lens opacity induced by lipid peroxidation products as a model of cataract associated with retinal disease. (2742866)
1989
41
Rod-cone interactions and analysis of retinal disease. (3873959)
1985
42
Electroretinographic intensity-response function in retinal disease. (3924519)
1985
43
Ultrasonic patterns in vitreo-retinal disease. (7116781)
1982
44
Photopsia-due to retinal disease. (7141600)
1982
45
The role of photocoagulation in the treatment of retinal disease. (6934655)
1980
46
Electrodiagnostic and psychophysical testing in retinal disease. (6967471)
1980
47
Recovery of the human early receptor potential during dark adaptation in hereditary retinal disease. (5311448)
1970
48
Visual field defects in retinal disease. (5397392)
1969
49
The retinal disease of rubella. (6022716)
1967
50
Retinal disease in neurology. (5852678)
1965

Variations for Retinal Disease

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Expression for genes affiliated with Retinal Disease

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Sources:
2BioGPS, 16Gene 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:
51PathCards, 54QIAGEN, 56Reactome
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Compounds for genes affiliated with Retinal Disease

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GO Terms for genes affiliated with Retinal Disease

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17Gene Ontology
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Cellular components related to Retinal Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059299.7PDZD7, BBS10
2photoreceptor outer segment membraneGO:0426229.1OPN1SW, ROM1, GNAT1
3photoreceptor inner segmentGO:0019178.7ARMS2, GNAT1, AIPL1

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:0454949.6BBS10, USH1G
2phototransductionGO:0076029.6CABP4, OPN1SW
3retina homeostasisGO:0018959.2ARMS2, AIPL1, BBS10
4phototransduction, visible lightGO:0076039.0GNAT1, OPN1SW, AIPL1
5response to stimulusGO:0508968.6BBS10, NRL, NYX
6visual perceptionGO:0076016.7AIPL1, GNAT1, OPN1SW, NRL, ROM1, CABP4

Products for genes affiliated with Retinal Disease

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Retinal Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet