BSCR
MCID: BRD025
MIFTS: 41

Birdshot Chorioretinopathy (BSCR) malady

Rare diseases, Eye diseases categories

Summaries for Birdshot Chorioretinopathy

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Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Birdshot Chorioretinopathy, also known as multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk, is related to psoriasis and melanoma. 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:66 Birdshot chorioretinopathy is a rare form of bilateral posterior uveitis affecting the eye. It causes... more...

Description from OMIM:48 605808

Aliases & Classifications for Birdshot Chorioretinopathy

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Sources:
44NIH Rare Diseases, 50Orphanet, 48OMIM, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
birdshot chorioretinopathy:
Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

birdshot chorioretinopathy 44 50 48 63
multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk 44
choroidal and/or chorioretinal disorder 63
birdshot retinochoroidopathy 50
birdshot retinochoroiditis 50
birdshot chorioretinitis 50
vitiliginous choroiditis 50
bscr 44


External Ids:

OMIM48 605808
MESH via Orphanet37 C537630
ICD10 via Orphanet27 H30.1
UMLS via Orphanet64 C1853959

Related Diseases for Birdshot Chorioretinopathy

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Sources:
18GeneCards, 19GeneDecks
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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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48OMIM
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Symptoms by clinical synopsis from OMIM:

605808

Clinical features from OMIM:

605808

Drugs & Therapeutics for Birdshot Chorioretinopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Birdshot Chorioretinopathy

Drug clinical trials:

Search ClinicalTrials for Birdshot Chorioretinopathy

Search NIH Clinical Center for Birdshot Chorioretinopathy

Search CenterWatch for Birdshot Chorioretinopathy

Genetic Tests for Birdshot Chorioretinopathy

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Anatomical Context for Birdshot Chorioretinopathy

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Sources:
34MalaCards
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MalaCards organs/tissues related to Birdshot Chorioretinopathy:

34
Eye, Retina, Testes

Animal Models for Birdshot Chorioretinopathy or affiliated genes

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Publications for Birdshot Chorioretinopathy

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Sources:
53PubMed
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Articles related to Birdshot Chorioretinopathy:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
Long-term Clinical and Anatomic Outcome of Birdshot Chorioretinopathy. (24336967)
2014
2
When you can have the bird without shooting it!: Extramacular enhanced depth optical coherence tomography in birdshot chorioretinopathy. (24114135)
2013
3
Characterization of birdshot chorioretinopathy using extramacular enhanced depth optical coherence tomography. (23307137)
2013
4
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
5
Vision-related quality of life in patients with birdshot chorioretinopathy. (23289541)
2013
6
When you can have the bird without shooting it!: Extramacular enhanced depth optical coherence tomography in birdshot chorioretinopathy--reply. (24114136)
2013
7
Imaging in birdshot chorioretinopathy. (22954941)
2012
8
Histological findings of birdshot chorioretinopathy in an eye with ciliochoroidal melanoma. (22402699)
2012
9
Cytomegalovirus colitis and viremia from mycophenolate mofetil monotherapy in birdshot chorioretinopathy. (22106917)
2011
10
Efficacy of low-dose methotrexate treatment in birdshot chorioretinopathy. (21386763)
2011
11
Pars plana vitrectomy for vitreo-retinal complications of birdshot chorioretinopathy. (21823933)
2011
12
Diagnostic testing and disease monitoring in birdshot chorioretinopathy. (21958183)
2011
13
Restoration of retinal architecture following systemic immunosuppression in birdshot chorioretinopathy. (20735296)
2010
14
Microperimetry findings in patients with birdshot chorioretinopathy. (20648086)
2010
15
Anti-VEGF therapy for choroidal neovascularisation secondary to Birdshot chorioretinopathy. (20408095)
2010
16
Longitudinal cohort study of patients with birdshot chorioretinopathy. V. Quality of life at baseline. (18848319)
2009
17
The spectrum of fundus autofluorescence findings in birdshot chorioretinopathy. (20339461)
2009
18
Contrast sensitivity among patients with birdshot chorioretinopathy. (18973873)
2009
19
Clinical features, treatment methods, and evolution of birdshot chorioretinopathy in 5 different families. (19272587)
2009
20
Daclizumab for treatment of birdshot chorioretinopathy. (18268208)
2008
21
Loss of visual field among patients with birdshot chorioretinopathy. (17997394)
2008
22
Fundus autofluorescence in birdshot chorioretinopathy. (18378316)
2008
23
Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals. (18340360)
2008
24
Genetics of birdshot chorioretinopathy. (18214792)
2008
25
Longitudinal cohort study of patients with birdshot chorioretinopathy. III. Macular imaging at baseline. (17949671)
2007
26
Longitudinal cohort study of patients with birdshot chorioretinopathy. IV. Visual field results at baseline. (17937923)
2007
27
Birdshot chorioretinopathy. (17065923)
2006
28
Research criteria for the diagnosis of birdshot chorioretinopathy: results of an international consensus conference. (16386995)
2006
29
Longitudinal cohort study of patients with birdshot chorioretinopathy. I. Baseline clinical characteristics. (16386987)
2006
30
Standardized visual field assessment for patients with birdshot chorioretinopathy. (17162602)
2006
31
Longitudinal cohort study of patients with birdshot chorioretinopathy II: color vision at baseline. (17157585)
2006
32
The pathogenesis of birdshot chorioretinopathy. (16818087)
2006
33
Electrophysiological characterisation and monitoring in the management of birdshot chorioretinopathy. (15923507)
2005
34
Birdshot chorioretinopathy. (16263368)
2005
35
Birdshot chorioretinopathy. (15745791)
2005
36
Electroretinographic monitoring in birdshot chorioretinopathy. (16038651)
2005
37
Long term follow-up of birdshot chorioretinopathy. (15510720)
2004
38
Birdshot chorioretinopathy: long-term manifestations and visual prognosis. (15121374)
2004
39
Differential inflammatory involvement in retina and choroA^d in birdshot chorioretinopathy. (15162278)
2004
40
Potential role of computerized visual field testing for the appraisal and follow-up of birdshot chorioretinopathy. (9790650)
1998
41
Choroidal abnormalities in birdshot chorioretinopathy: an indocyanine green angiography study. (9425423)
1997
42
Prolonged retinal arterio-venous circulation time by fluorescein but not by indocyanine green angiography in birdshot chorioretinopathy. (9326765)
1997
43
Psoriasis and birdshot chorioretinopathy: response to aromatic retinoids. (8358104)
1993
44
HLA-A29 subtypes and birdshot chorioretinopathy. (1729172)
1992
45
Susceptibility to birdshot chorioretinopathy is restricted to the HLA-A29.2 subtype. (2077673)
1990
46
Electrophysiologic studies in birdshot chorioretinopathy. (3177561)
1988
47
Birdshot chorioretinopathy: clinical characteristics and evolution. (2460128)
1988
48
HLA typing in birdshot chorioretinopathy. (3341436)
1988
49
Birdshot chorioretinopathy--vitiliginous chorioretinitis. (7152797)
1982
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Birdshot Chorioretinopathy

Search GEO for disease gene expression data for Birdshot Chorioretinopathy.

Pathways for genes affiliated with Birdshot Chorioretinopathy

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Sources:
51PathCards, 56Reactome, 61Thomson Reuters, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN
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Pathways related to Birdshot Chorioretinopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6HLA-C, HLA-A
2
Show member pathways
9.6HLA-C, HLA-A
3
Show member pathways
7.7HLA-C, KIR2DS4, KIR2DS1, KIR2DS3, KIR2DL1, KIR3DS1
4
Show member pathways
7.3HLA-A, HLA-C, KIR2DS4, KIR2DS1, KIR2DS3, KIR3DL1
57.3KIR2DL1, KIR3DL1, KIR2DS3, KIR2DS1, KIR2DS4, HLA-C
6
Show member pathways
Immune response CD16 signaling in NK cells61
6.5KIR2DS4, HLA-C, HLA-A, KIR2DS1, KIR2DS3, KIR2DL1
7
Show member pathways
6.5KIR2DL1, KIR3DL1, KIR2DS2, KIR2DS3, KIR2DS1, KIR2DS4

Compounds for genes affiliated with Birdshot Chorioretinopathy

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GO Terms for genes affiliated with Birdshot Chorioretinopathy

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17Gene Ontology
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Cellular components related to Birdshot Chorioretinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class I protein complexGO:0426129.7HLA-C, HLA-A
2integral component of lumenal side of endoplasmic reticulum membraneGO:0715569.6HLA-A, HLA-C
3early endosome membraneGO:0319019.6HLA-C, HLA-A
4ER to Golgi transport vesicle membraneGO:0125079.5HLA-C, HLA-A
5phagocytic vesicle membraneGO:0306709.3HLA-C, HLA-A
6integral component of plasma membraneGO:0058877.7KIR3DS1, HLA-A, HLA-C, KIR2DS4, KIR2DS3, KIR3DL1
7plasma membraneGO:0058866.5HLA-A, HLA-C, KIR2DS4, KIR2DS1, KIR2DS2, KIR3DL1

Biological processes related to Birdshot Chorioretinopathy according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independentGO:0024869.8HLA-A, HLA-C
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:0024809.8HLA-C, HLA-A
3positive regulation of T cell mediated cytotoxicityGO:0019169.8HLA-C, HLA-A
4type I interferon signaling pathwayGO:0603379.7HLA-A, HLA-C
5interferon-gamma-mediated signaling pathwayGO:0603339.6HLA-A, HLA-C
6antigen processing and presentation of peptide antigen via MHC class IGO:0024749.6HLA-C, HLA-A
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024799.5HLA-C, HLA-A
8antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425909.3HLA-C, HLA-A
9signal transductionGO:0071658.3KIR2DS1, KIR2DS2, KIR3DL1, KIR3DS1
10innate immune responseGO:0450877.8KIR3DS1, KIR2DS2, KIR2DS1, KIR2DS4, HLA-C
11regulation of immune responseGO:0507767.6KIR2DL1, KIR3DL1, KIR2DS2, KIR2DS1, HLA-C, HLA-A
12immune responseGO:0069557.2HLA-A, HLA-C, KIR2DS1, KIR2DS2, KIR3DL1, KIR2DL1

Molecular functions related to Birdshot Chorioretinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TAP bindingGO:0469779.5HLA-C, HLA-A
2peptide antigen bindingGO:0426059.3HLA-C, HLA-A
3transmembrane signaling receptor activityGO:0048889.0KIR2DS2, KIR2DS1

Products for genes affiliated with Birdshot Chorioretinopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Birdshot Chorioretinopathy

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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