BSCR
MCID: BRD025
MIFTS: 30

Birdshot Chorioretinopathy (BSCR) malady

Eye category

Summaries for Birdshot Chorioretinopathy

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 chorioretinopathy, birdshot type, is related to psoriatic arthritis and myeloid leukemia. An important gene associated with Birdshot Chorioretinopathy is HLA-A (major histocompatibility complex, class I, A), and among its related pathways are COPII (Coat Protein 2) Mediated Vesicle Transport and Endosomal/Vacuolar pathway. Affiliated tissues include retina and t cells.

Wikipedia:64 Birdshot chorioretinopathy is a rare form of bilateral posterior uveitis affecting the eye. It causes... more...

Description from OMIM:47 605808

Aliases & Classifications for Birdshot Chorioretinopathy

Sources:
43NIH Rare Diseases, 61UMLS, 49Orphanet, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
chorioretinopathy, birdshot type:
Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

birdshot chorioretinopathy 43 61
chorioretinopathy, birdshot type 49 47
multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk 43
choroidal and/or chorioretinal disorder 61
bscr 43


External Ids:

OMIM47 605808
MESH via Orphanet36 C537630
ICD10 via Orphanet26 H30.1
UMLS via Orphanet62 C1853959

Related Diseases for Birdshot Chorioretinopathy

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Birdshot Chorioretinopathy:



Diseases related to birdshot chorioretinopathy

Clinical Features for Birdshot Chorioretinopathy

Sources:
47OMIM
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Clinical features from OMIM:

605808

Clinical synopsis from OMIM:

605808

Drugs & Therapeutics for Birdshot Chorioretinopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Birdshot Chorioretinopathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Birdshot Chorioretinopathy:

33
Retina, T cells

Animal Models for Birdshot Chorioretinopathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Birdshot Chorioretinopathy

Sources:
51PubMed
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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
Indocyanine green angiography (ICGA) is essential for the early diagnosis of birdshot chorioretinopathy. (22496001)
2012
10
Cytomegalovirus colitis and viremia from mycophenolate mofetil monotherapy in birdshot chorioretinopathy. (22106917)
2011
11
Efficacy of low-dose methotrexate treatment in birdshot chorioretinopathy. (21386763)
2011
12
Pars plana vitrectomy for vitreo-retinal complications of birdshot chorioretinopathy. (21823933)
2011
13
Diagnostic testing and disease monitoring in birdshot chorioretinopathy. (21958183)
2011
14
Outcomes of birdshot chorioretinopathy treated with an intravitreal sustained-release fluocinolone acetonide-containing device. (21277557)
2011
15
Intraocular interleukin-17 and proinflammatory cytokines in HLA-A29-associated birdshot chorioretinopathy. (21570674)
2011
16
HLA-A29 and birdshot chorioretinopathy. (22106906)
2011
17
Microperimetry findings in patients with birdshot chorioretinopathy. (20648086)
2010
18
Anti-VEGF therapy for choroidal neovascularisation secondary to Birdshot chorioretinopathy. (20408095)
2010
19
Extraocular manifestations of birdshot chorioretinopathy in 118 French patients. (20219319)
2010
20
Longitudinal cohort study of patients with birdshot chorioretinopathy. V. Quality of life at baseline. (18848319)
2009
21
Contrast sensitivity among patients with birdshot chorioretinopathy. (18973873)
2009
22
Daclizumab for treatment of birdshot chorioretinopathy. (18268208)
2008
23
Loss of visual field among patients with birdshot chorioretinopathy. (17997394)
2008
24
Fundus autofluorescence in birdshot chorioretinopathy. (18378316)
2008
25
Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals. (18340360)
2008
26
False negative antibody-based HLA-A29 typing in two patients with birdshot chorioretinopathy. (18653613)
2008
27
Longitudinal cohort study of patients with birdshot chorioretinopathy. III. Macular imaging at baseline. (17949671)
2007
28
Longitudinal cohort study of patients with birdshot chorioretinopathy. IV. Visual field results at baseline. (17937923)
2007
29
Birdshot chorioretinopathy. (17065923)
2006
30
Research criteria for the diagnosis of birdshot chorioretinopathy: results of an international consensus conference. (16386995)
2006
31
Longitudinal cohort study of patients with birdshot chorioretinopathy. I. Baseline clinical characteristics. (16386987)
2006
32
Standardized visual field assessment for patients with birdshot chorioretinopathy. (17162602)
2006
33
Longitudinal cohort study of patients with birdshot chorioretinopathy II: color vision at baseline. (17157585)
2006
34
Choroidal lesions preceding symptom onset in birdshot chorioretinopathy. (16832035)
2006
35
Electrophysiological characterisation and monitoring in the management of birdshot chorioretinopathy. (15923507)
2005
36
Birdshot chorioretinopathy. (15745791)
2005
37
Electroretinographic monitoring in birdshot chorioretinopathy. (16038651)
2005
38
Long term follow-up of birdshot chorioretinopathy. (15510720)
2004
39
Birdshot chorioretinopathy: long-term manifestations and visual prognosis. (15121374)
2004
40
Differential inflammatory involvement in retina and choroA^d in birdshot chorioretinopathy. (15162278)
2004
41
Indocyanine green angiography in birdshot chorioretinopathy. (10519587)
1999
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
Prolonged retinal arterio-venous circulation time by fluorescein but not by indocyanine green angiography in birdshot chorioretinopathy. (9326765)
1997
45
Birdshot chorioretinopathy and Lyme borreliosis. (8430723)
1993
46
HLA-A29 subtypes and birdshot chorioretinopathy. (1729172)
1992
47
Susceptibility to birdshot chorioretinopathy is restricted to the HLA-A29.2 subtype. (2077673)
1990
48
Birdshot chorioretinopathy: clinical characteristics and evolution. (2460128)
1988
49
HLA typing in birdshot chorioretinopathy. (3341436)
1988
50
Birdshot chorioretinopathy--vitiliginous chorioretinitis. (7152797)
1982

Genetic Variations for Birdshot Chorioretinopathy

Expression for genes affiliated with Birdshot Chorioretinopathy

Sources:
1BioGPS, 15Gene 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

Sources:
54Reactome, 30KEGG, 12EMD Millipore
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Compounds for genes affiliated with Birdshot Chorioretinopathy

GO Terms for genes affiliated with Birdshot Chorioretinopathy

Sources:
16Gene Ontology
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Cellular components related to Birdshot Chorioretinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class I protein complexGO:0426129.6HLA-A, HLA-C
2phagocytic vesicle membraneGO:0306709.6HLA-A, HLA-C
3integral to lumenal side of endoplasmic reticulum membraneGO:0715569.5HLA-C, HLA-A
4ER to Golgi transport vesicle membraneGO:0125079.3HLA-A, HLA-C
5integral to plasma membraneGO:0058877.6KIR2DS4, HLA-C, HLA-A, KIR2DL1, KIR2DS3, KIR3DS1
6plasma membraneGO:0058866.5HLA-C, HLA-A, KIR2DL1, KIR2DS2, KIR3DS1, KIR2DS1

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of T cell mediated cytotoxicityGO:0019169.6HLA-A, HLA-C
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:0024809.3HLA-A, HLA-C
3innate immune responseGO:0450877.5HLA-C, KIR2DS2, KIR3DS1, KIR2DS1, KIR2DS4
4regulation of immune responseGO:0507767.4KIR3DL1, KIR2DS1, KIR2DS2, KIR2DL1, HLA-A, HLA-C
5immune responseGO:0069557.0HLA-C, HLA-A, KIR2DL1, KIR2DS2, KIR3DS1, KIR2DS1

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

idNameGO IDScoreTop Affiliating Genes
1peptide antigen bindingGO:0426059.6HLA-A, HLA-C

Products for genes affiliated with Birdshot Chorioretinopathy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Birdshot Chorioretinopathy

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