MCID: BRD025
MIFTS: 35

Birdshot Chorioretinopathy malady

Rare diseases, Eye diseases categories

Aliases & Classifications for Birdshot Chorioretinopathy

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Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Birdshot Chorioretinopathy, Aliases & Descriptions:

Name: Birdshot Chorioretinopathy 41 47 60
Birdshot Chorioretinitis 41 47 60
Birdshot Retinochoroidopathy 41 47
Birdshot Retinochoroiditis 41 47
 
Vitiliginous Choroiditis 41 47
Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around the Optic Disk 41
Bscr 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
birdshot chorioretinopathy:
Prevalence: 1-9/1000000 (United States); Age of onset: Adult,Elderly; Age of death: normal life expectancy


External Ids:

Orphanet47 179
MESH via Orphanet34 C537630
ICD10 via Orphanet26 H30.1
UMLS via Orphanet61 C1853959

Summaries for Birdshot Chorioretinopathy

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NIH Rare Diseases:41 Birdshot chorioretinopathy is an eye condition in which painless, light-colored spots develop on the retina.  these spots are scattered in a "birdshot" pattern.  the effects of this condition on vision are quite variable; some individuals' vision is only mildly affected, whereas others experience a significant decline in vision, the appearance of floaters (small specks that appear in one's line of sight), night blindness, and other vision problems.  symptoms typically begin around middle age; caucasians are affected more than individuals of other ethnicities.  the cause of birdshot chorioretinopathy is currently unknown, but it is suspected to be an autoimmune disease.  treatment may include medications that aim to regulate the body's immune response. last updated: 3/21/2013

MalaCards based summary: Birdshot Chorioretinopathy, also known as birdshot chorioretinitis, is related to uveitis and psoriasis, and has symptoms including autosomal dominant inheritance, chorioretinopathy and depigmented lesions of the retinal pigment epithelium. An important gene associated with Birdshot Chorioretinopathy is HLA-A (major histocompatibility complex, class I, A), and among its related pathways are ER to Golgi Transport and Immune response IFN alpha beta signaling pathway. Affiliated tissues include eye, retina and testes.

Wikipedia:63 Birdshot chorioretinopathy is a rare form of bilateral posterior uveitis affecting the eye. It causes... more...

Related Diseases for Birdshot Chorioretinopathy

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Graphical network of the top 20 diseases related to Birdshot Chorioretinopathy:



Diseases related to birdshot chorioretinopathy

Symptoms for Birdshot Chorioretinopathy

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HPO human phenotypes related to Birdshot Chorioretinopathy:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 chorioretinopathy HP:0001145
3 depigmented lesions of the retinal pigment epithelium HP:0008017

Drugs & Therapeutics for Birdshot Chorioretinopathy

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Drug clinical trials:

Search ClinicalTrials for Birdshot Chorioretinopathy

Search NIH Clinical Center for Birdshot Chorioretinopathy

Genetic Tests for Birdshot Chorioretinopathy

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Anatomical Context for Birdshot Chorioretinopathy

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MalaCards organs/tissues related to Birdshot Chorioretinopathy:

31
Eye, Retina, Testes

Animal Models for Birdshot Chorioretinopathy or affiliated genes

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Publications for Birdshot Chorioretinopathy

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Articles related to Birdshot Chorioretinopathy:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Choroidal degeneration in birdshot chorioretinopathy. (25811950)
2015
2
Pointwise linear regression analysis of serial Humphrey visual fields and a correlation with electroretinography in birdshot chorioretinopathy. (25637598)
2015
3
The immunopathogenesis of birdshot chorioretinopathy; a bird of many feathers. (25434765)
2015
4
Diagnostic Sensitivity of Indocyanine Green Angiography for Birdshot Chorioretinopathy. (25906054)
2015
5
Development and validation of quality-of-life questionnaires for birdshot chorioretinopathy. (24576888)
2014
6
Detection of choroid- and retina-antigen reactive CD8(+) and CD4(+) T lymphocytes in the vitreous fluid of patients with birdshot chorioretinopathy. (24530754)
2014
7
Birdshot chorioretinopathy. (25211040)
2014
8
Correlation between clinical signs and optical coherence tomography with enhanced depth imaging findings in patients with birdshot chorioretinopathy. (24831429)
2014
9
Gender differences in birdshot chorioretinopathy and the white dot syndromes: do they exist? (24678412)
2014
10
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. (24957906)
2014
11
Long-term Clinical and Anatomic Outcome of Birdshot Chorioretinopathy. (24336967)
2014
12
When you can have the bird without shooting it!: Extramacular enhanced depth optical coherence tomography in birdshot chorioretinopathy. (24114135)
2013
13
Characterization of birdshot chorioretinopathy using extramacular enhanced depth optical coherence tomography. (23307137)
2013
14
Treatment of cystoid macular edema in a patient with birdshot chorioretinopathy with bevacizumab. (25390538)
2013
15
Interleukin-17 production and T helper 17 cells in peripheral blood mononuclear cells in response to ocular lysate in patients with birdshot chorioretinopathy. (24379648)
2013
16
Vision-related quality of life in patients with birdshot chorioretinopathy. (23289541)
2013
17
Imaging in birdshot chorioretinopathy. (22954941)
2012
18
Sarcoid uveitis simulating birdshot chorioretinopathy in a child. (25390698)
2012
19
Histological findings of birdshot chorioretinopathy in an eye with ciliochoroidal melanoma. (22402699)
2012
20
Cytomegalovirus colitis and viremia from mycophenolate mofetil monotherapy in birdshot chorioretinopathy. (22106917)
2011
21
Efficacy of low-dose methotrexate treatment in birdshot chorioretinopathy. (21386763)
2011
22
Pars plana vitrectomy for vitreo-retinal complications of birdshot chorioretinopathy. (21823933)
2011
23
Restoration of retinal architecture following systemic immunosuppression in birdshot chorioretinopathy. (20735296)
2010
24
Microperimetry findings in patients with birdshot chorioretinopathy. (20648086)
2010
25
Longitudinal cohort study of patients with birdshot chorioretinopathy. V. Quality of life at baseline. (18848319)
2009
26
The spectrum of fundus autofluorescence findings in birdshot chorioretinopathy. (20339461)
2009
27
Contrast sensitivity among patients with birdshot chorioretinopathy. (18973873)
2009
28
Daclizumab for treatment of birdshot chorioretinopathy. (18268208)
2008
29
Loss of visual field among patients with birdshot chorioretinopathy. (17997394)
2008
30
Longitudinal cohort study of patients with birdshot chorioretinopathy. III. Macular imaging at baseline. (17949671)
2007
31
Longitudinal cohort study of patients with birdshot chorioretinopathy. IV. Visual field results at baseline. (17937923)
2007
32
Birdshot chorioretinopathy. (17065923)
2006
33
Research criteria for the diagnosis of birdshot chorioretinopathy: results of an international consensus conference. (16386995)
2006
34
Longitudinal cohort study of patients with birdshot chorioretinopathy. I. Baseline clinical characteristics. (16386987)
2006
35
Electrophysiological characterisation and monitoring in the management of birdshot chorioretinopathy. (15923507)
2005
36
Birdshot chorioretinopathy. (16263368)
2005
37
Birdshot chorioretinopathy. (15745791)
2005
38
Electroretinographic monitoring in birdshot chorioretinopathy. (16038651)
2005
39
Long term follow-up of birdshot chorioretinopathy. (15510720)
2004
40
Birdshot chorioretinopathy: long-term manifestations and visual prognosis. (15121374)
2004
41
Differential inflammatory involvement in retina and choroA^d in birdshot chorioretinopathy. (15162278)
2004
42
Potential role of computerized visual field testing for the appraisal and follow-up of birdshot chorioretinopathy. (9790650)
1998
43
Choroidal abnormalities in birdshot chorioretinopathy: an indocyanine green angiography study. (9425423)
1997
44
Psoriasis and birdshot chorioretinopathy: response to aromatic retinoids. (8358104)
1993
45
HLA-A29 subtypes and birdshot chorioretinopathy. (1729172)
1992
46
Susceptibility to birdshot chorioretinopathy is restricted to the HLA-A29.2 subtype. (2077673)
1990
47
Electrophysiologic studies in birdshot chorioretinopathy. (3177561)
1988
48
Birdshot chorioretinopathy: clinical characteristics and evolution. (2460128)
1988
49
HLA typing in birdshot chorioretinopathy. (3341436)
1988
50
Birdshot chorioretinopathy: an etiological problem. (7343040)
1981

Variations for Birdshot Chorioretinopathy

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Expression for genes affiliated with Birdshot Chorioretinopathy

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Search GEO for disease gene expression data for Birdshot Chorioretinopathy.

Pathways for genes affiliated with Birdshot Chorioretinopathy

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Pathways related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6HLA-C, HLA-A
2
Show member pathways
9.6HLA-A, HLA-C
3
Show member pathways
7.7KIR2DS1, KIR2DS3, KIR2DL1, KIR2DS4, HLA-C, KIR3DS1
4
Show member pathways
7.3KIR3DL1, KIR2DS4, KIR2DL1, HLA-C, KIR2DS3, HLA-A
57.3HLA-A, KIR2DL1, KIR3DL1, KIR2DS3, KIR2DS1, KIR2DS4
6
Show member pathways
6.5HLA-A, KIR3DL1, KIR2DL1, KIR2DS2, KIR2DS3, KIR2DS1
7
Show member pathways
Immune response CD16 signaling in NK cells58
6.5KIR3DL1, KIR2DS2, KIR2DS3, KIR2DS1, KIR2DS4, HLA-C

Compounds for genes affiliated with Birdshot Chorioretinopathy

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GO Terms for genes affiliated with Birdshot Chorioretinopathy

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Cellular components related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MHC class I protein complexGO:00426129.7HLA-A, HLA-C
2integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.6HLA-C, HLA-A
3early endosome membraneGO:00319019.6HLA-C, HLA-A
4ER to Golgi transport vesicle membraneGO:00125079.5HLA-C, HLA-A
5phagocytic vesicle membraneGO:00306709.3HLA-A, HLA-C
6integral component of plasma membraneGO:00058877.7KIR2DS4, HLA-A, HLA-C, KIR2DS3, KIR3DL1, KIR2DL1
7plasma membraneGO:00058866.5KIR3DS1, HLA-A, KIR2DL1, KIR3DL1, KIR2DS2, KIR2DS1

Biological processes related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independentGO:00024869.8HLA-A, HLA-C
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:00024809.8HLA-A, HLA-C
3positive regulation of T cell mediated cytotoxicityGO:00019169.8HLA-A, HLA-C
4type I interferon signaling pathwayGO:00603379.7HLA-A, HLA-C
5interferon-gamma-mediated signaling pathwayGO:00603339.6HLA-A, HLA-C
6antigen processing and presentation of peptide antigen via MHC class IGO:00024749.6HLA-A, HLA-C
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:00024799.5HLA-C, HLA-A
8antigen processing and presentation of exogenous peptide antigen via MHC class IGO:00425909.3HLA-C, HLA-A
9signal transductionGO:00071658.3KIR2DS1, KIR2DS2, KIR3DL1, KIR3DS1
10innate immune responseGO:00450877.8KIR2DS4, KIR2DS1, KIR2DS2, HLA-C, KIR3DS1
11regulation of immune responseGO:00507767.6KIR2DS2, KIR2DL1, HLA-A, HLA-C, KIR2DS1, KIR3DL1
12immune responseGO:00069557.2KIR2DS2, KIR2DS1, KIR3DL1, HLA-C, KIR2DL1, KIR3DS1

Molecular functions related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1TAP bindingGO:00469779.5HLA-C, HLA-A
2peptide antigen bindingGO:00426059.3HLA-C, HLA-A
3transmembrane signaling receptor activityGO:00048889.0KIR2DS2, KIR2DS1

Products for genes affiliated with Birdshot Chorioretinopathy

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  • Antibodies
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  • Kits and Assays

Sources for Birdshot Chorioretinopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet