BSCR
MCID: BRD025
MIFTS: 42

Birdshot Chorioretinopathy (BSCR) malady

Rare diseases, Eye diseases categories
Download this MalaCard

Summaries for Birdshot Chorioretinopathy

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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 retinochoroidopathy, is related to uveitis and psoriasis, and has symptoms including 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:65 Birdshot chorioretinopathy is a rare form of bilateral posterior uveitis affecting the eye. It causes... more...

Description from OMIM:46 605808

Aliases & Classifications for Birdshot Chorioretinopathy

About this section
Sources:
42NIH Rare Diseases, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Birdshot Chorioretinopathy, Aliases & Descriptions:

Name: Birdshot Chorioretinopathy 42 48 46 62
Birdshot Retinochoroidopathy 48 62
Birdshot Retinochoroiditis 48 62
Birdshot Chorioretinitis 48 62
 
Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around the Optic Disk 42
Vitiliginous Choroiditis 48
Bscr 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
birdshot chorioretinopathy:
Age of onset: Adulthood; Age of death: Normal


External Ids:

OMIM46 605808
MESH via Orphanet35 C537630
ICD10 via Orphanet26 H30.1
UMLS via Orphanet63 C1853959

Related Diseases for Birdshot Chorioretinopathy

About this section

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



Diseases related to birdshot chorioretinopathy

Symptoms for Birdshot Chorioretinopathy

About this section

Symptoms by clinical synopsis from OMIM:

605808

Clinical features from OMIM:

605808

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

About this section

Drug clinical trials:

Search ClinicalTrials for Birdshot Chorioretinopathy

Search NIH Clinical Center for Birdshot Chorioretinopathy

Genetic Tests for Birdshot Chorioretinopathy

About this section

Anatomical Context for Birdshot Chorioretinopathy

About this section

MalaCards organs/tissues related to Birdshot Chorioretinopathy:

32
Eye, Retina, Testes

Animal Models for Birdshot Chorioretinopathy or affiliated genes

About this section

Publications for Birdshot Chorioretinopathy

About this section

Articles related to Birdshot Chorioretinopathy:

(show top 50)    (show all 70)
idTitleAuthorsYear
1
Development and validation of quality-of-life questionnaires for birdshot chorioretinopathy. (24576888)
2014
2
Detection of choroid- and retina-antigen reactive CD8(+) and CD4(+) T lymphocytes in the vitreous fluid of patients with birdshot chorioretinopathy. (24530754)
2014
3
Birdshot chorioretinopathy. (25211040)
2014
4
Correlation between clinical signs and optical coherence tomography with enhanced depth imaging findings in patients with birdshot chorioretinopathy. (24831429)
2014
5
Gender differences in birdshot chorioretinopathy and the white dot syndromes: do they exist? (24678412)
2014
6
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. (24957906)
2014
7
Long-term Clinical and Anatomic Outcome of Birdshot Chorioretinopathy. (24336967)
2014
8
HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient. (25010254)
2014
9
When you can have the bird without shooting it!: Extramacular enhanced depth optical coherence tomography in birdshot chorioretinopathy. (24114135)
2013
10
Characterization of birdshot chorioretinopathy using extramacular enhanced depth optical coherence tomography. (23307137)
2013
11
Treatment of cystoid macular edema in a patient with birdshot chorioretinopathy with bevacizumab. (25390538)
2013
12
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
13
Vision-related quality of life in patients with birdshot chorioretinopathy. (23289541)
2013
14
Imaging in birdshot chorioretinopathy. (22954941)
2012
15
Sarcoid uveitis simulating birdshot chorioretinopathy in a child. (25390698)
2012
16
Histological findings of birdshot chorioretinopathy in an eye with ciliochoroidal melanoma. (22402699)
2012
17
Cytomegalovirus colitis and viremia from mycophenolate mofetil monotherapy in birdshot chorioretinopathy. (22106917)
2011
18
Efficacy of low-dose methotrexate treatment in birdshot chorioretinopathy. (21386763)
2011
19
Pars plana vitrectomy for vitreo-retinal complications of birdshot chorioretinopathy. (21823933)
2011
20
Restoration of retinal architecture following systemic immunosuppression in birdshot chorioretinopathy. (20735296)
2010
21
Microperimetry findings in patients with birdshot chorioretinopathy. (20648086)
2010
22
Longitudinal cohort study of patients with birdshot chorioretinopathy. V. Quality of life at baseline. (18848319)
2009
23
The spectrum of fundus autofluorescence findings in birdshot chorioretinopathy. (20339461)
2009
24
Contrast sensitivity among patients with birdshot chorioretinopathy. (18973873)
2009
25
Daclizumab for treatment of birdshot chorioretinopathy. (18268208)
2008
26
Loss of visual field among patients with birdshot chorioretinopathy. (17997394)
2008
27
Fundus autofluorescence in birdshot chorioretinopathy. (18378316)
2008
28
Longitudinal cohort study of patients with birdshot chorioretinopathy. III. Macular imaging at baseline. (17949671)
2007
29
Longitudinal cohort study of patients with birdshot chorioretinopathy. IV. Visual field results at baseline. (17937923)
2007
30
Birdshot chorioretinopathy. (17065923)
2006
31
Research criteria for the diagnosis of birdshot chorioretinopathy: results of an international consensus conference. (16386995)
2006
32
Longitudinal cohort study of patients with birdshot chorioretinopathy. I. Baseline clinical characteristics. (16386987)
2006
33
Standardized visual field assessment for patients with birdshot chorioretinopathy. (17162602)
2006
34
Electrophysiological characterisation and monitoring in the management of birdshot chorioretinopathy. (15923507)
2005
35
Birdshot chorioretinopathy. (16263368)
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
Potential role of computerized visual field testing for the appraisal and follow-up of birdshot chorioretinopathy. (9790650)
1998
42
Choroidal abnormalities in birdshot chorioretinopathy: an indocyanine green angiography study. (9425423)
1997
43
Prolonged retinal arterio-venous circulation time by fluorescein but not by indocyanine green angiography in birdshot chorioretinopathy. (9326765)
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

About this section

Expression for genes affiliated with Birdshot Chorioretinopathy

About this section
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

About this section

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 cells60
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

About this section

GO Terms for genes affiliated with Birdshot Chorioretinopathy

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Birdshot Chorioretinopathy

About this section
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