MCID: RTN018
MIFTS: 49

Retinal Disease malady

Eye diseases category
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Summaries for Retinal Disease

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

Wikipedia:65 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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Retinal Disease, Aliases & Descriptions:

Name: Retinal Disease 8
Retinal Disorders 65 33 62
Retinal Diseases 62
 
Retinal Disorder 8
Retina Disorder 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:5679
MeSH34 D012164
ICD9CM27 362.9

Related Diseases for Retinal Disease

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

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome30.3PDZD7, USH1G
2congenital stationary night blindness30.2NYX
3blindness30.1NRL, AIPL1
4leber congenital amaurosis29.8AIPL1, NRL
5retinal degeneration29.7NRL, ROM1, AIPL1
6retinitis11.0
7congenital nystagmus10.2CABP4, CCDC28B
8fundus dystrophy10.1ROM1, AIPL1
9cataract10.1
10diabetic retinopathy10.1
11endotheliitis10.1
12exudative vitreoretinopathy10.0
13vitelliform macular dystrophy10.0
14fundus albipunctatus10.0
15age related macular degeneration10.0
16bardet-biedl syndrome10.0BBS10, CCDC28B
17retinitis pigmentosa9.9
18proliferative diabetic retinopathy9.9
19retinopathy of prematurity9.9
20choroiditis9.9
21retinal detachment9.9
22macular dystrophy9.9
23retinal disease in usher syndrome type iia, modifier of9.9
24spasmus nutans9.9
25night blindness9.9GNAT1, NYX, CABP4
26stargardt disease9.9
27bestrophinopathy9.9
28type 2 diabetes mellitus9.9
29pseudoxanthoma elasticum9.9
30diabetic macular edema9.9
31spiradenoma9.9
32blue cone monochromacy9.9
33bothnia retinal dystrophy9.9
34hereditary retinal dystrophy9.9
35degeneration of macula and posterior pole9.9
36peripheral retinal degeneration9.9
37retinoschisis9.9
38x-linked congenital stationary night blindness9.9
39cone-rod dystrophy 29.9
40cone-rod dystrophy amelogenesis imperfecta9.9
41doyne honeycomb retinal dystrophy9.9
42eales disease9.9
43goldmann-favre syndrome9.9
44hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome9.9
45joubert syndrome with ocular anomalies9.9
46leber congenital amaurosis 109.9
47norrie disease9.9
48north carolina macular dystrophy9.9
49retinal cone dystrophy 3b9.9
50snowflake vitreoretinal degeneration9.9

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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Drug clinical trials:

Search ClinicalTrials for Retinal Disease

Search NIH Clinical Center for Retinal Disease

Genetic Tests for Retinal Disease

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Anatomical Context for Retinal Disease

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MalaCards organs/tissues related to Retinal Disease:

32
Retina, Eye, Brain, Testes, Endothelial, Cortex, Placenta, T cells

FMA organs/tissues related to Retinal Disease:

14
The retina

Animal Models for Retinal Disease or affiliated genes

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MGI Mouse Phenotypes related to Retinal Disease:

36
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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Articles related to Retinal Disease:

(show top 50)    (show all 252)
idTitleAuthorsYear
1
Willingness to pay for genetic testing for inherited retinal disease. (24916649)
2014
2
CERKL, a retinal disease gene, encodes an mRNA-binding protein that localizes in compact and untranslated mRNPs associated with microtubules. (24498393)
2014
3
Stem cells for investigation and treatment of inherited retinal disease. (24647603)
2014
4
Clinical characteristics of early retinal disease due to CDHR1 mutation. (24265541)
2013
5
Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank. (23078154)
2013
6
Clinical features of retinal diseases masquerading as retrobulbar optic neuritis. (24033953)
2013
7
Increased levels of gene therapy may not be beneficial in retinal disease. (23553840)
2013
8
SIRT1 activation protects against autoimmune T cell-driven retinal disease in mice via inhibition of IL-2/Stat5 signaling. (23395551)
2013
9
Gene therapy for retinal disease. (23305707)
2013
10
Association of vaginal delivery efforts with retinal disease in women with type I diabetes. (21957876)
2012
11
Expression of PRPF31 and TFPT: regulation in health and retinal disease. (22723017)
2012
12
Pilot application of iTRAQ to the retinal disease Macular Telangiectasia. (22098468)
2012
13
A new efficient protocol for directed differentiation of retinal pigmented epithelial cells from normal and retinal disease induced pluripotent stem cells. (22145677)
2012
14
Animal models of retinal disease. (21377628)
2011
15
mTOR pathway activation in age-related retinal disease. (21483039)
2011
16
Current drug patenting for retinal diseases: beyond VEGF inhibitors. (20024845)
2010
17
Induced pluripotent stem cell therapies for retinal disease. (19949329)
2010
18
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. (20440071)
2010
19
Bitemporal hemianopia caused by retinal disease. (20008732)
2009
20
Impact of retinal disease-associated RPE65 mutations on retinoid isomerization. (18722466)
2008
21
RAGE and its ligands in retinal disease. (18331234)
2007
22
Galectin-1 suppresses autoimmune retinal disease by promoting concomitant Th2- and T regulatory-mediated anti-inflammatory responses. (16670344)
2006
23
Fundus autofluorescence in children and teenagers with hereditary retinal diseases. (16034607)
2006
24
Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds. (17249567)
2006
25
Upregulation of RAGE and its ligands in proliferative retinal disease. (16364297)
2006
26
Functional aspects of the somatostatinergic system in the retina and the potential therapeutic role of somatostatin in retinal disease. (15736065)
2005
27
Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl. (15163632)
2004
28
Diagnostic imaging of retinal disease. (15577561)
2004
29
Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14. (12054608)
2002
30
Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans. (11420621)
2001
31
Emotional distress in patients with retinal disease. (11336932)
2001
32
Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes. (11733058)
2001
33
Retinal disease in patients with systemic lupus erythematosus. (10976084)
2000
34
Platelet-derived growth factor and basic fibroblast growth factor immunolocalized in proliferative retinal diseases. (11775539)
2000
35
Matrix and the retinal pigment epithelium in proliferative retinal disease. (9932282)
1999
36
Retinal disease in neuro-ophthalmology: paraneoplastic retinopathy and the big blind spot syndrome. (10159748)
1995
37
Platelet-derived growth factor ligands and receptors immunolocalized in proliferative retinal diseases. (8088954)
1994
38
New ophthalmic lasers for the evaluation and treatment of retinal disease. (8260150)
1993
39
Photoreceptor cell rescue at early and late RPE-cell transplantation periods during retinal disease in RCS dystrophic rats. (1868118)
1991
40
Color vision defects in retinal disease. (2786407)
1989
41
Lens opacity induced by lipid peroxidation products as a model of cataract associated with retinal disease. (2742866)
1989
42
Rod-cone interactions and analysis of retinal disease. (3873959)
1985
43
Electroretinographic intensity-response function in retinal disease. (3924519)
1985
44
Ultrasonic patterns in vitreo-retinal disease. (7116781)
1982
45
Photopsia-due to retinal disease. (7141600)
1982
46
The role of photocoagulation in the treatment of retinal disease. (6934655)
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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Expression patterns in normal tissues for genes affiliated with Retinal Disease

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Pathways for genes affiliated with Retinal Disease

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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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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:0076029.6OPN1SW, CABP4
3retina homeostasisGO:0018959.2AIPL1, BBS10, ARMS2
4phototransduction, visible lightGO:0076039.0AIPL1, GNAT1, OPN1SW
5response to stimulusGO:0508968.6NRL, BBS10, NYX
6visual perceptionGO:0076016.7OPN1SW, NRL, ROM1, CABP4, BBS10, NYX

Products for genes affiliated with Retinal Disease

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet