MCID: BRD025
MIFTS: 44

Birdshot Chorioretinopathy malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Birdshot Chorioretinopathy

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Birdshot Chorioretinopathy:

Name: Birdshot Chorioretinopathy 50 46 52 66
Birdshot Chorioretinitis 46 52 66
Birdshot Retinochoroidopathy 46 52
Birdshot Retinochoroiditis 46 52
 
Vitiliginous Choroiditis 46 52
Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around the Optic Disk 46
Bscr 46

Characteristics:

Orphanet epidemiological data:

52
birdshot chorioretinopathy:
Prevalence: 1-9/1000000 (United States); Age of onset: Adult,Elderly; Age of death: normal life expectancy

HPO:

62
birdshot chorioretinopathy:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 605808
Orphanet52 ORPHA179
ICD10 via Orphanet29 H30.1
MESH via Orphanet38 C537630
UMLS via Orphanet67 C1853959

Summaries for Birdshot Chorioretinopathy

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NIH Rare Diseases:46 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 retinal vasculitis and gonococcal iridocyclitis, and has symptoms including visual impairment, chorioretinal abnormality and retinal pigment epithelial atrophy. An important gene associated with Birdshot Chorioretinopathy is HLA-A (Major Histocompatibility Complex, Class I, A), and among its related pathways are Immune response IFN alpha/beta signaling pathway and Antigen Presentation- Folding, assembly and peptide loading of class I MHC. Affiliated tissues include eye, retina and testes.

Wikipedia:69 Birdshot chorioretinopathy is a rare form of bilateral posterior uveitis affecting the eye. It causes... more...

Description from OMIM:50 605808

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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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 visual impairment HP:0000505
2 chorioretinal abnormality HP:0000532
3 retinal pigment epithelial atrophy HP:0007722
4 vitritis HP:0011531
5 posterior uveitis HP:0012123

Drugs & Therapeutics for Birdshot Chorioretinopathy

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Drugs for Birdshot Chorioretinopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PrednisonePhase 2131853-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
 
Juvason
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
2interferonsPhase 22112
3glucocorticoidsPhase 24756

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation of Birdshot Retine Choroidopathy Treatment by Either Steroid or Interferon alpha2aCompletedNCT00508040Phase 2
2Safety and Efficacy of AIN457 in Noninfectious UveitisCompletedNCT00685399Phase 2

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:

34
Eye, Retina, Testes, T cells

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 97)
idTitleAuthorsYear
1
Spatial agreement between Goldmann visual field defects and fundus autofluorescence in patients with birdshot chorioretinopathy. (27246316)
2016
2
Assessment of retinal vascular calibres as a biomarker of disease activity in birdshot chorioretinopathy. (27494951)
2016
3
WALDENSTRA9M'S MACROGLOBULINEMIA MASQUERADING AS BIRDSHOT CHORIORETINOPATHY. (27124793)
2016
4
Choroidal Neovascularization Associated With Birdshot Chorioretinopathy. (27183549)
2016
5
Pointwise linear regression analysis of serial Humphrey visual fields and a correlation with electroretinography in birdshot chorioretinopathy. (25637598)
2015
6
Ozurdex for the Treatment of a Patient with Birdshot Chorioretinopathy. (26483669)
2015
7
Diagnostic Sensitivity of Indocyanine Green Angiography for Birdshot Chorioretinopathy. (25906054)
2015
8
Visual Electrodiagnostic Testing in Birdshot Chorioretinopathy. (26246903)
2015
9
Elevated Serum Immune Mediators and Subclinical Inflammation in HLA-A29-associated Birdshot Chorioretinopathy. (26645126)
2015
10
MULTIFOCAL ELECTRORETINOGRAM IN BIRDSHOT CHORIORETINOPATHY. (25635576)
2015
11
RETINAL AND CHOROIDAL VASCULATURE IN BIRDSHOT CHORIORETINOPATHY ANALYZED USING SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY. (26352557)
2015
12
Development and validation of quality-of-life questionnaires for birdshot chorioretinopathy. (24576888)
2014
13
Birdshot chorioretinopathy. (25211040)
2014
14
Correlation between clinical signs and optical coherence tomography with enhanced depth imaging findings in patients with birdshot chorioretinopathy. (24831429)
2014
15
HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient. (25010254)
2014
16
When you can have the bird without shooting it!: Extramacular enhanced depth optical coherence tomography in birdshot chorioretinopathy. (24114135)
2013
17
Treatment of cystoid macular edema in a patient with birdshot chorioretinopathy with bevacizumab. (25390538)
2013
18
When you can have the bird without shooting it!: Extramacular enhanced depth optical coherence tomography in birdshot chorioretinopathy--reply. (24114136)
2013
19
HLA-A29-Positive Uveitis: Birdshot Chorioretinopathy, What Else? (24474930)
2013
20
Characterization of birdshot chorioretinopathy using extramacular enhanced depth optical coherence tomography. (23307137)
2013
21
Cytomegalovirus colitis and viremia from mycophenolate mofetil monotherapy in birdshot chorioretinopathy. (22106917)
2011
22
Efficacy of low-dose methotrexate treatment in birdshot chorioretinopathy. (21386763)
2011
23
Outcomes of birdshot chorioretinopathy treated with an intravitreal sustained-release fluocinolone acetonide-containing device. (21277557)
2011
24
Intraocular interleukin-17 and proinflammatory cytokines in HLA-A29-associated birdshot chorioretinopathy. (21570674)
2011
25
HLA-A29 and birdshot chorioretinopathy. (22106906)
2011
26
Microperimetry findings in patients with birdshot chorioretinopathy. (20648086)
2010
27
Extraocular manifestations of birdshot chorioretinopathy in 118 French patients. (20219319)
2010
28
Longitudinal cohort study of patients with birdshot chorioretinopathy. V. Quality of life at baseline. (18848319)
2009
29
Daclizumab for treatment of birdshot chorioretinopathy. (18268208)
2008
30
Fundus autofluorescence in birdshot chorioretinopathy. (18378316)
2008
31
Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals. (18340360)
2008
32
Longitudinal cohort study of patients with birdshot chorioretinopathy. III. Macular imaging at baseline. (17949671)
2007
33
Birdshot chorioretinopathy. (17065923)
2006
34
Longitudinal cohort study of patients with birdshot chorioretinopathy. I. Baseline clinical characteristics. (16386987)
2006
35
The pathogenesis of birdshot chorioretinopathy. (16818087)
2006
36
Choroidal lesions preceding symptom onset in birdshot chorioretinopathy. (16832035)
2006
37
Electrophysiological characterisation and monitoring in the management of birdshot chorioretinopathy. (15923507)
2005
38
Birdshot chorioretinopathy. (16263368)
2005
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
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
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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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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4HLA-A, HLA-C, IL17A
29.2ERAP1, ERAP2, HLA-A, HLA-C
3
Show member pathways
8.7ERAP1, ERAP2, HLA-A, HLA-C, LNPEP
48.1HLA-A, HLA-C, KIR2DL1, KIR2DS1, KIR2DS2, KIR3DL1
5
Show member pathways
6.9HLA-A, HLA-C, KIR2DL1, KIR2DS1, KIR2DS2, KIR2DS3
66.6HLA-A, HLA-C, KIR2DL1, KIR2DS1, KIR2DS2, KIR2DS3
7
Show member pathways
6.5HLA-A, HLA-C, IL17A, KIR2DL1, KIR2DS1, KIR2DS2
8
Show member pathways
5.3ERAP1, ERAP2, HLA-A, HLA-C, IL17A, KIR2DL1

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:004261210.6HLA-A, HLA-C
2integral component of lumenal side of endoplasmic reticulum membraneGO:007155610.5HLA-A, HLA-C
3integral component of plasma membraneGO:00058877.9KIR2DL1, KIR2DS3, KIR2DS4, KIR3DL1, KIR3DS1, LNPEP
4plasma membraneGO:00058865.5ERAP1, ERAP2, HLA-A, HLA-C, KIR2DL1, KIR2DS1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentation of endogenous peptide antigen via MHC class IGO:001988510.4ERAP1, ERAP2
2antigen processing and presentationGO:001988210.4HLA-A, HLA-C
3antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:000248010.0HLA-A, HLA-C, LNPEP
4antigen processing and presentation of peptide antigen via MHC class IGO:00024749.8ERAP1, ERAP2, HLA-A, HLA-C
5peptide catabolic processGO:00431719.8ERAP1, ERAP2, LNPEP
6regulation of blood pressureGO:00082179.5ERAP1, ERAP2, LNPEP
7innate immune responseGO:00450878.5KIR2DS1, KIR2DS2, KIR2DS4, KIR3DS1
8regulation of immune responseGO:00507768.4HLA-A, HLA-C, KIR2DL1, KIR2DS1, KIR2DS2, KIR3DL1
9signal transductionGO:00071658.2KIR2DS1, KIR2DS2, KIR3DL1, KIR3DS1, LNPEP
10immune responseGO:00069557.9IL17A, KIR2DL1, KIR2DS1, KIR2DS2, KIR3DL1, KIR3DS1

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

idNameGO IDScoreTop Affiliating Genes
1peptide antigen bindingGO:00426059.9HLA-A, HLA-C
2peptide bindingGO:00422779.3ERAP1, ERAP2, LNPEP
3aminopeptidase activityGO:00041779.3ERAP1, ERAP2, LNPEP
4metalloaminopeptidase activityGO:00700069.2ERAP1, ERAP2, LNPEP

Sources for Birdshot Chorioretinopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet