MCID: BRD025
MIFTS: 45

Birdshot Chorioretinopathy malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Birdshot Chorioretinopathy

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Sources:
31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Birdshot Chorioretinopathy:

Name: Birdshot Chorioretinopathy 52 48 54 68
Birdshot Chorioretinitis 48 54 68
Birdshot Retinochoroidopathy 48 54
Birdshot Retinochoroiditis 48 54
 
Vitiliginous Choroiditis 48 54
Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around the Optic Disk 48
Bscr 48

Characteristics:

Orphanet epidemiological data:

54
birdshot chorioretinopathy:
Prevalence: 1-9/1000000 (United States); Age of onset: Adult,Elderly; Age of death: normal life expectancy

HPO:

64
birdshot chorioretinopathy:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 605808
Orphanet54 ORPHA179
MESH via Orphanet40 C537630
UMLS via Orphanet69 C1853959
ICD10 via Orphanet31 H30.1

Summaries for Birdshot Chorioretinopathy

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NIH Rare Diseases:48 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 Array, Array and Array. 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, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and Increased shRNA abundance (Z-score > 2).

Wikipedia:71 Birdshot chorioretinopathy is a rare form of bilateral posterior uveitis affecting the eye. It causes... more...

Description from OMIM:52 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 & Phenotypes for Birdshot Chorioretinopathy

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Symptoms by clinical synopsis from OMIM:

605808

Clinical features from OMIM:

605808

Human phenotypes related to Birdshot Chorioretinopathy:

 54 64 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 attenuation of retinal blood vessels54 Frequent (79-30%)
2 macular hole54 Frequent (79-30%)
3 retinal thinning54 Frequent (79-30%)
4 blind-spot enlargment54 Frequent (79-30%)
5 epiretinal membrane54 Frequent (79-30%)
6 inflammatory abnormality of the eye54 Frequent (79-30%)
7 vitreous floaters54 Frequent (79-30%)
8 macular scarring54 Frequent (79-30%)
9 retinal detachment54 Occasional (29-5%)
10 choroidal neovascularization of the macula54 Occasional (29-5%)
11 arcuate scotoma54 Occasional (29-5%)
12 chorioretinal abnormality64 54 Very frequent (99-80%) HP:0000532
13 visual loss54 Very frequent (99-80%)
14 abnormality of the choroid54 Very frequent (99-80%)
15 increased intraocular pressure54 Very frequent (99-80%)
16 abnormality of the retinal vasculature54 Very frequent (99-80%)
17 cystoid macular edema54 Very frequent (99-80%)
18 vitritis64 54 Very frequent (99-80%) HP:0011531
19 photoreceptor layer loss on macular oct54 Very frequent (99-80%)
20 cataract54 Frequent (79-30%)
21 optic disc pallor54 Frequent (79-30%)
22 photophobia54 Frequent (79-30%)
23 blurred vision54 Frequent (79-30%)
24 visual impairment64 HP:0000505
25 retinal pigment epithelial atrophy64 HP:0007722
26 posterior uveitis64 HP:0012123

GenomeRNAi Phenotypes related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-584.6KIR2DL1, KIR2DS1, KIR2DS2, KIR2DS1, KIR2DS2, KIR3DS1
2GR00366-A-350.4KIR2DL1, KIR2DS2, KIR2DS4, KIR3DS1, HLA-A, HLA-C

Drugs & Therapeutics for Birdshot Chorioretinopathy

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Prednisoneapproved, vet_approvedPhase 2135953-03-25865
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
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 212767
3Interferon-alphaPhase 21139
4interferonsPhase 22137
5HormonesPhase 213979
6Hormone AntagonistsPhase 212778
7Anti-Inflammatory AgentsPhase 210355
8Antineoplastic Agents, HormonalPhase 25407
9Antiviral AgentsPhase 29732
10glucocorticoidsPhase 24920
11Anti-Infective AgentsPhase 221402

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:

36
Eye, Retina, Testes, T cells

Publications for Birdshot Chorioretinopathy

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Articles related to Birdshot Chorioretinopathy:

(show top 50)    (show all 98)
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
Visual response and anatomical changes on sequential spectral-domain optical coherence tomography in birdshot chorioretinopathy treated with local corticosteroid therapy. (27847627)
2016
6
Th17 and regulatory T cells are increased in blood of patients with birdshot chorioretinopathy. (27009556)
2016
7
Multimodal imaging of the disease progression of birdshot chorioretinopathy. (27230297)
2016
8
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF A29 BIRDSHOT CHORIORETINOPATHY COMPLICATED BY RETINAL NEOVASCULARIZATION. (27632586)
2016
9
HLA-A29-POSITIVE BIRDSHOT CHORIORETINOPATHY IN AN AFRICAN AMERICAN PATIENT. (26579592)
2016
10
In Response to: "Baddar D, Goldstein DA. HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient". (27014945)
2016
11
Efficacy of Methylprednisolone Pulse Followed by Oral Prednisone in Birdshot Chorioretinopathy. (27380253)
2016
12
Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment. (27175923)
2016
13
Authors reply to Letter to the Editor-In Response to: "Baddar D, Goldstein DA. HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient". (27015040)
2016
14
CLINICOPATHOLOGICAL CORRELATION IN A PATIENT WITH PREVIOUSLY TREATED BIRDSHOT CHORIORETINOPATHY. (27465484)
2016
15
INTRAVITREAL DEXAMETHASONE IMPLANTATION FOR BIRDSHOT CHORIORETINOPATHY. (26982209)
2016
16
Pointwise linear regression analysis of serial Humphrey visual fields and a correlation with electroretinography in birdshot chorioretinopathy. (25637598)
2015
17
Ozurdex for the Treatment of a Patient with Birdshot Chorioretinopathy. (26483669)
2015
18
Diagnostic Sensitivity of Indocyanine Green Angiography for Birdshot Chorioretinopathy. (25906054)
2015
19
Visual Electrodiagnostic Testing in Birdshot Chorioretinopathy. (26246903)
2015
20
Elevated Serum Immune Mediators and Subclinical Inflammation in HLA-A29-associated Birdshot Chorioretinopathy. (26645126)
2015
21
MULTIFOCAL ELECTRORETINOGRAM IN BIRDSHOT CHORIORETINOPATHY. (25635576)
2015
22
RETINAL AND CHOROIDAL VASCULATURE IN BIRDSHOT CHORIORETINOPATHY ANALYZED USING SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY. (26352557)
2015
23
Choroidal degeneration in birdshot chorioretinopathy. (25811950)
2015
24
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN BIRDSHOT CHORIORETINOPATHY: A NOVEL ASSOCIATION. (26421963)
2015
25
The immunopathogenesis of birdshot chorioretinopathy; a bird of many feathers. (25434765)
2015
26
Quantitative Assessment of Retinal Degeneration in Birdshot Chorioretinopathy Using Optical Coherence Tomography. (26599242)
2015
27
Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy. (25861398)
2015
28
ERAP1 polymorphism relevant to inflammatory disease shapes the peptidome of the birdshot chorioretinopathy-associated HLA-A*29:02 antigen. (25892735)
2015
29
Development and validation of quality-of-life questionnaires for birdshot chorioretinopathy. (24576888)
2014
30
Birdshot chorioretinopathy. (25211040)
2014
31
Correlation between clinical signs and optical coherence tomography with enhanced depth imaging findings in patients with birdshot chorioretinopathy. (24831429)
2014
32
HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient. (25010254)
2014
33
Detection of choroid- and retina-antigen reactive CD8(+) and CD4(+) T lymphocytes in the vitreous fluid of patients with birdshot chorioretinopathy. (24530754)
2014
34
Gender differences in birdshot chorioretinopathy and the white dot syndromes: do they exist? (24678412)
2014
35
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. (24957906)
2014
36
Long-term Clinical and Anatomic Outcome of Birdshot Chorioretinopathy. (24336967)
2014
37
Mycophenolic acid in the treatment of birdshot chorioretinopathy: long-term follow-up. (25061107)
2014
38
When you can have the bird without shooting it!: Extramacular enhanced depth optical coherence tomography in birdshot chorioretinopathy. (24114135)
2013
39
Treatment of cystoid macular edema in a patient with birdshot chorioretinopathy with bevacizumab. (25390538)
2013
40
When you can have the bird without shooting it!: Extramacular enhanced depth optical coherence tomography in birdshot chorioretinopathy--reply. (24114136)
2013
41
HLA-A29-Positive Uveitis: Birdshot Chorioretinopathy, What Else? (24474930)
2013
42
Characterization of birdshot chorioretinopathy using extramacular enhanced depth optical coherence tomography. (23307137)
2013
43
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
44
Vision-related quality of life in patients with birdshot chorioretinopathy. (23289541)
2013
45
Imaging in birdshot chorioretinopathy. (22954941)
2012
46
Sarcoid uveitis simulating birdshot chorioretinopathy in a child. (25390698)
2012
47
Histological findings of birdshot chorioretinopathy in an eye with ciliochoroidal melanoma. (22402699)
2012
48
Indocyanine green angiography (ICGA) is essential for the early diagnosis of birdshot chorioretinopathy. (22496001)
2012
49
Cytomegalovirus colitis and viremia from mycophenolate mofetil monotherapy in birdshot chorioretinopathy. (22106917)
2011
50
Efficacy of low-dose methotrexate treatment in birdshot chorioretinopathy. (21386763)
2011

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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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
1integral component of lumenal side of endoplasmic reticulum membraneGO:007155610.6HLA-A, HLA-C
2MHC class I protein complexGO:004261210.6HLA-A, HLA-C
3integral component of plasma membraneGO:00058879.0KIR2DL1, KIR2DS3, KIR2DS4, KIR3DL1, KIR3DS1, LNPEP
4plasma membraneGO:00058865.8ERAP1, 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:001988510.6ERAP1, ERAP2
2antigen processing and presentationGO:001988210.6HLA-A, HLA-C
3antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentGO:000248010.3HLA-A, HLA-C, LNPEP
4peptide catabolic processGO:004317110.3ERAP1, ERAP2, LNPEP
5regulation of blood pressureGO:000821710.3ERAP1, ERAP2, LNPEP
6antigen processing and presentation of peptide antigen via MHC class IGO:00024749.9ERAP1, ERAP2, HLA-A, HLA-C
7innate immune responseGO:00450878.9KIR2DS1, KIR2DS2, KIR2DS4, KIR3DS1
8regulation of immune responseGO:00507768.4HLA-A, HLA-C, KIR2DL1, KIR2DS1, KIR2DS2, KIR3DL1
9immune responseGO:00069558.2IL17A, KIR2DL1, KIR2DS1, KIR2DS2, KIR3DL1, KIR3DS1
10signal transductionGO:00071658.1KIR2DS1, KIR2DS2, KIR3DL1, KIR3DS1, LNPEP

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

idNameGO IDScoreTop Affiliating Genes
1peptide antigen bindingGO:004260510.3HLA-A, HLA-C
2aminopeptidase activityGO:000417710.1ERAP1, ERAP2, LNPEP
3metalloaminopeptidase activityGO:007000610.1ERAP1, ERAP2, LNPEP
4peptide bindingGO:00422779.6ERAP1, ERAP2, LNPEP

Sources for Birdshot Chorioretinopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet