BSCR
MCID: BRD025
MIFTS: 50

Birdshot Chorioretinopathy (BSCR)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Birdshot Chorioretinopathy

MalaCards integrated aliases for Birdshot Chorioretinopathy:

Name: Birdshot Chorioretinopathy 57 12 76 53 59 44 15 73
Birdshot Chorioretinitis 12 53 59 73
Birdshot Retinochoroidopathy 12 53 59
Birdshot Retinochoroiditis 12 53 59
Vitiliginous Choroiditis 12 53 59
Bscr 57 12 53
Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around the Optic Disk 53

Characteristics:

Orphanet epidemiological data:

59
birdshot chorioretinopathy
Prevalence: 1-9/1000000 (United States); Age of onset: Adult,Elderly; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
birdshot chorioretinopathy:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


Summaries for Birdshot Chorioretinopathy

NIH Rare Diseases : 53 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.

MalaCards based summary : Birdshot Chorioretinopathy, also known as birdshot chorioretinitis, is related to vogt-koyanagi-harada disease and panuveitis. An important gene associated with Birdshot Chorioretinopathy is HLA-A (Major Histocompatibility Complex, Class I, A), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. The drugs Prednisone and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and t cells, and related phenotypes are cataract and photophobia

Disease Ontology : 12 A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.

Wikipedia : 76 Birdshot chorioretinopathy now commonly named "Birdshot Uveitis" or "HLA-A29 Uveitis" is a rare form of... more...

Description from OMIM: 605808

Related Diseases for Birdshot Chorioretinopathy

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



Diseases related to Birdshot Chorioretinopathy

Symptoms & Phenotypes for Birdshot Chorioretinopathy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
chorioretinopathy
white painless eye
particulate debris in vitreous
depigmented lesions of the retinal pigment epithelium


Clinical features from OMIM:

605808

Human phenotypes related to Birdshot Chorioretinopathy:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
2 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
3 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
4 visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000572
5 retinal thinning 59 32 frequent (33%) Frequent (79-30%) HP:0030329
6 blurred vision 59 32 frequent (33%) Frequent (79-30%) HP:0000622
7 inflammatory abnormality of the eye 59 32 frequent (33%) Frequent (79-30%) HP:0100533
8 optic disc pallor 59 32 frequent (33%) Frequent (79-30%) HP:0000543
9 vitritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011531
10 increased intraocular pressure 59 32 hallmark (90%) Very frequent (99-80%) HP:0007906
11 vitreous floaters 59 32 frequent (33%) Frequent (79-30%) HP:0100832
12 attenuation of retinal blood vessels 59 32 frequent (33%) Frequent (79-30%) HP:0007843
13 macular hole 59 32 frequent (33%) Frequent (79-30%) HP:0011508
14 blind-spot enlargment 59 32 frequent (33%) Frequent (79-30%) HP:0030644
15 epiretinal membrane 59 32 frequent (33%) Frequent (79-30%) HP:0100014
16 arcuate scotoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0030530
17 cystoid macular edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0011505
18 photoreceptor layer loss on macular oct 59 32 hallmark (90%) Very frequent (99-80%) HP:0030609
19 visual impairment 32 HP:0000505
20 abnormality of the retinal vasculature 59 Very frequent (99-80%)
21 abnormality of the choroid 59 Very frequent (99-80%)
22 chorioretinal abnormality 59 Very frequent (99-80%)
23 macular scarring 59 Frequent (79-30%)
24 choroidal neovascularization of the macula 59 Occasional (29-5%)
25 posterior uveitis 32 HP:0012123
26 choroidal neovascularization 32 occasional (7.5%) HP:0011506
27 macular scar 32 frequent (33%) HP:0200056
28 retinal pigment epithelial atrophy 32 HP:0007722
29 abnormal chorioretinal morphology 32 hallmark (90%) HP:0000532

Drugs & Therapeutics for Birdshot Chorioretinopathy

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
2 tannic acid Approved Phase 2
3
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
4 Antineoplastic Agents, Hormonal Phase 2
5 Hormones Phase 2
6 Antiviral Agents Phase 2
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
8 Anti-Inflammatory Agents Phase 2
9 Hormone Antagonists Phase 2
10 Immunologic Factors Phase 2
11 Interferon-alpha Phase 2
12 interferons Phase 2
13 Anti-Infective Agents Phase 2
14 glucocorticoids Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Birdshot Retine Choroidopathy Treatment by Either Steroid or Interferon alpha2a Completed NCT00508040 Phase 2 interferon alpha 2a;prednisone
2 Safety and Efficacy of AIN457 in Noninfectious Uveitis Completed NCT00685399 Phase 2 AIN457;AIN 457;AIN457

Search NIH Clinical Center for Birdshot Chorioretinopathy

Cochrane evidence based reviews: birdshot chorioretinopathy

Genetic Tests for Birdshot Chorioretinopathy

Anatomical Context for Birdshot Chorioretinopathy

MalaCards organs/tissues related to Birdshot Chorioretinopathy:

41
Eye, Retina, T Cells, Testes, Tongue

Publications for Birdshot Chorioretinopathy

Articles related to Birdshot Chorioretinopathy:

(show top 50) (show all 116)
# Title Authors Year
1
Allele-specific Alterations in the Peptidome Underlie the Joint Association of HLA-A*29:02 and Endoplasmic Reticulum Aminopeptidase 2 (ERAP2) with Birdshot Chorioretinopathy. ( 29769354 )
2018
2
Non-Occlusive Retinal Vascular Inflammation and Role of Red Blood Cell Deformability in Birdshot Chorioretinopathy. ( 29985708 )
2018
3
ADALIMUMAB THERAPY FOR REFRACTORY BIRDSHOT CHORIORETINOPATHY. ( 30067605 )
2018
4
Use of En Face Swept-Source Optical Coherence Tomography Angiography in Identifying Choroidal Flow Voids in 3 Patients With Birdshot Chorioretinopathy. ( 30128478 )
2018
5
Dexamethasone implantation in birdshot chorioretinopathy - long-term outcome. ( 30555265 )
2018
6
Five-year trends in multifocal electroretinogram for patients with birdshot chorioretinopathy. ( 30557530 )
2018
7
Non-invasive method of monitoring retinal vasculitis in patients with birdshot chorioretinopathy using optical coherence tomography. ( 28844053 )
2017
8
INCREASED PHOTORECEPTOR OUTER SEGMENT VOLUME FOLLOWING SYSTEMIC TREATMENT OF BIRDSHOT CHORIORETINOPATHY. ( 28816864 )
2017
9
RETINAL CAPILLARY DENSITY IN PATIENTS WITH BIRDSHOT CHORIORETINOPATHY. ( 28196058 )
2017
10
Choroidal Imaging with Swept-Source Optical Coherence Tomography in Patients with Birdshot Chorioretinopathy: Choroidal Reflectivity and Thickness. ( 28456419 )
2017
11
Visualization of Photoreceptors in Birdshot Chorioretinopathy Using Adaptive Optics Scanning Laser Ophthalmoscopy: A Pilot Study. ( 28362542 )
2017
12
Adalimumab in refractory cystoid macular edema associated with birdshot chorioretinopathy. ( 28608031 )
2017
13
Feasibility of swept-source OCT for active birdshot chorioretinopathy. ( 28470437 )
2017
14
Analysis of autofluorescence pattern in birdshot chorioretinopathy. ( 28451757 )
2017
15
Electroretinogram and visual field changes in a case of birdshot chorioretinopathy. ( 28281104 )
2017
16
Birdshot Chorioretinopathy. ( 29144845 )
2017
17
CLINICOPATHOLOGICAL CORRELATION IN A PATIENT WITH PREVIOUSLY TREATED BIRDSHOT CHORIORETINOPATHY. ( 27465484 )
2017
18
Multimodal imaging of the disease progression of birdshot chorioretinopathy. ( 27230297 )
2016
19
INTRAVITREAL DEXAMETHASONE IMPLANTATION FOR BIRDSHOT CHORIORETINOPATHY. ( 26982209 )
2016
20
Choroidal Neovascularization Associated With Birdshot Chorioretinopathy. ( 27183549 )
2016
21
Efficacy of Methylprednisolone Pulse Followed by Oral Prednisone in Birdshot Chorioretinopathy. ( 27380253 )
2016
22
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF A29 BIRDSHOT CHORIORETINOPATHY COMPLICATED BY RETINAL NEOVASCULARIZATION. ( 27632586 )
2016
23
HLA-A29-POSITIVE BIRDSHOT CHORIORETINOPATHY IN AN AFRICAN AMERICAN PATIENT. ( 26579592 )
2016
24
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
25
In Response to: "Baddar D, Goldstein DA. HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient". ( 27014945 )
2016
26
WALDENSTRA9M'S MACROGLOBULINEMIA MASQUERADING AS BIRDSHOT CHORIORETINOPATHY. ( 27124793 )
2016
27
Th17 and regulatory T cells are increased in blood of patients with birdshot chorioretinopathy. ( 27009556 )
2016
28
Visual response and anatomical changes on sequential spectral-domain optical coherence tomography in birdshot chorioretinopathy treated with local corticosteroid therapy. ( 27847627 )
2016
29
Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment. ( 27175923 )
2016
30
Spatial agreement between Goldmann visual field defects and fundus autofluorescence in patients with birdshot chorioretinopathy. ( 27246316 )
2016
31
Assessment of retinal vascular calibres as a biomarker of disease activity in birdshot chorioretinopathy. ( 27494951 )
2016
32
Topical difluprednate for the treatment of retinal vasculitis associated with birdshot chorioretinitis. ( 29503901 )
2016
33
Elevated Serum Immune Mediators and Subclinical Inflammation in HLA-A29-associated Birdshot Chorioretinopathy. ( 26645126 )
2015
34
Ozurdex for the Treatment of a Patient with Birdshot Chorioretinopathy. ( 26483669 )
2015
35
Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy. ( 25861398 )
2015
36
ERAP1 polymorphism relevant to inflammatory disease shapes the peptidome of the birdshot chorioretinopathy-associated HLA-A*29:02 antigen. ( 25892735 )
2015
37
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN BIRDSHOT CHORIORETINOPATHY: A NOVEL ASSOCIATION. ( 26421963 )
2015
38
MULTIFOCAL ELECTRORETINOGRAM IN BIRDSHOT CHORIORETINOPATHY. ( 25635576 )
2015
39
The immunopathogenesis of birdshot chorioretinopathy; a bird of many feathers. ( 25434765 )
2015
40
Choroidal degeneration in birdshot chorioretinopathy. ( 25811950 )
2015
41
Pointwise linear regression analysis of serial Humphrey visual fields and a correlation with electroretinography in birdshot chorioretinopathy. ( 25637598 )
2015
42
RETINAL AND CHOROIDAL VASCULATURE IN BIRDSHOT CHORIORETINOPATHY ANALYZED USING SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY. ( 26352557 )
2015
43
Visual Electrodiagnostic Testing in Birdshot Chorioretinopathy. ( 26246903 )
2015
44
Quantitative Assessment of Retinal Degeneration in Birdshot Chorioretinopathy Using Optical Coherence Tomography. ( 26599242 )
2015
45
Diagnostic Sensitivity of Indocyanine Green Angiography for Birdshot Chorioretinopathy. ( 25906054 )
2015
46
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. ( 24957906 )
2014
47
Mycophenolic acid in the treatment of birdshot chorioretinopathy: long-term follow-up. ( 25061107 )
2014
48
Birdshot chorioretinopathy. ( 25211040 )
2014
49
Correlation between clinical signs and optical coherence tomography with enhanced depth imaging findings in patients with birdshot chorioretinopathy. ( 24831429 )
2014
50
Gender differences in birdshot chorioretinopathy and the white dot syndromes: do they exist? ( 24678412 )
2014

Variations for Birdshot Chorioretinopathy

Expression for Birdshot Chorioretinopathy

Search GEO for disease gene expression data for Birdshot Chorioretinopathy.

Pathways for Birdshot Chorioretinopathy

GO Terms for Birdshot Chorioretinopathy

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

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.58 ERAP1 ERAP2 HLA-A
2 regulation of immune response GO:0050776 9.46 HLA-A KIR2DL1 KIR2DS1 KIR3DL1
3 regulation of blood pressure GO:0008217 9.37 ERAP1 ERAP2
4 immune response GO:0006955 9.35 HLA-A IL17A KIR2DL1 KIR2DS1 KIR3DL1
5 peptide catabolic process GO:0043171 9.32 ERAP1 ERAP2
6 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.26 ERAP1 ERAP2
7 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 8.8 ERAP1 ERAP2 HLA-A

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

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 9.26 ERAP1 ERAP2
2 peptide binding GO:0042277 9.16 ERAP1 ERAP2
3 aminopeptidase activity GO:0004177 8.96 ERAP1 ERAP2
4 metalloaminopeptidase activity GO:0070006 8.62 ERAP1 ERAP2

Sources for Birdshot Chorioretinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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