MCID: BRD025
MIFTS: 48

Birdshot Chorioretinopathy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Birdshot Chorioretinopathy

MalaCards integrated aliases for Birdshot Chorioretinopathy:

Name: Birdshot Chorioretinopathy 58 12 77 54 60 45 15 74
Birdshot Chorioretinitis 12 54 60 74
Birdshot Retinochoroidopathy 12 54 60
Birdshot Retinochoroiditis 12 54 60
Vitiliginous Choroiditis 12 54 60
Bscr 58 12 54
Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around the Optic Disk 54

Characteristics:

Orphanet epidemiological data:

60
birdshot chorioretinopathy
Prevalence: 1-9/1000000 (United States); Age of onset: Adult,Elderly; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
birdshot chorioretinopathy:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 60  
Rare eye diseases


Summaries for Birdshot Chorioretinopathy

NIH Rare Diseases : 54 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 testes, and related phenotypes are visual loss and vitritis

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 : 77 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

Human phenotypes related to Birdshot Chorioretinopathy:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0000572
2 vitritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0011531
3 cystoid macular edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0011505
4 photoreceptor layer loss on macular oct 60 33 hallmark (90%) Very frequent (99-80%) HP:0030609
5 ocular hypertension 33 hallmark (90%) HP:0007906
6 abnormal chorioretinal morphology 33 hallmark (90%) HP:0000532
7 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
8 photophobia 60 33 frequent (33%) Frequent (79-30%) HP:0000613
9 retinal thinning 60 33 frequent (33%) Frequent (79-30%) HP:0030329
10 blurred vision 60 33 frequent (33%) Frequent (79-30%) HP:0000622
11 inflammatory abnormality of the eye 60 33 frequent (33%) Frequent (79-30%) HP:0100533
12 optic disc pallor 60 33 frequent (33%) Frequent (79-30%) HP:0000543
13 vitreous floaters 60 33 frequent (33%) Frequent (79-30%) HP:0100832
14 attenuation of retinal blood vessels 60 33 frequent (33%) Frequent (79-30%) HP:0007843
15 macular hole 60 33 frequent (33%) Frequent (79-30%) HP:0011508
16 blind-spot enlargment 60 33 frequent (33%) Frequent (79-30%) HP:0030644
17 epiretinal membrane 60 33 frequent (33%) Frequent (79-30%) HP:0100014
18 macular scar 33 frequent (33%) HP:0200056
19 retinal detachment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000541
20 choroidal neovascularization 60 33 occasional (7.5%) Occasional (29-5%) HP:0011506
21 arcuate scotoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0030530
22 visual impairment 33 HP:0000505
23 abnormality of the retinal vasculature 60 Very frequent (99-80%)
24 abnormality of the choroid 60 Very frequent (99-80%)
25 chorioretinal abnormality 60 Very frequent (99-80%)
26 increased intraocular pressure 60 Very frequent (99-80%)
27 macular scarring 60 Frequent (79-30%)
28 posterior uveitis 33 HP:0012123
29 retinal pigment epithelial atrophy 33 HP:0007722

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
chorioretinopathy
white painless eye
particulate debris in vitreous
depigmented lesions of the retinal pigment epithelium

Clinical features from OMIM:

605808

Drugs & Therapeutics for Birdshot Chorioretinopathy

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

(show all 15)
# 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 1401-55-4
3
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
4 Hormones Phase 2
5 Anti-Inflammatory Agents Phase 2
6 Immunologic Factors Phase 2
7 Antineoplastic Agents, Hormonal Phase 2
8 Hormone Antagonists Phase 2
9 Antiviral Agents Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
11 Interferon-alpha Phase 2
12 Interferon alpha-2 Phase 2
13 Anti-Infective Agents Phase 2
14 glucocorticoids Phase 2
15 interferons 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:

42
Eye, Retina, Testes, T Cells

Publications for Birdshot Chorioretinopathy

Articles related to Birdshot Chorioretinopathy:

(show top 50) (show all 130)
# Title Authors Year
1
Implications of Birdshot-Like Uveitis on the Pathogenesis of Birdshot Chorioretinopathy. ( 30869756 )
2019
2
Implications of Birdshot-Like Uveitis on the Pathogenesis of Birdshot Chorioretinopathy-Reply. ( 30869757 )
2019
3
Unilateral Birdshot Chorioretinopathy in an Elderly Patient. ( 30709079 )
2019
4
EVALUATION OF PHOTORECEPTORS, RETINAL CAPILLARY PLEXUSES, AND CHORIOCAPILLARIS IN PATIENTS WITH BIRDSHOT CHORIORETINOPATHY. ( 30789462 )
2019
5
RETINAL CAPILLARY DENSITY IN PATIENTS WITH BIRDSHOT CHORIORETINOPATHY. ( 28196058 )
2018
6
Adalimumab in refractory cystoid macular edema associated with birdshot chorioretinopathy. ( 28608031 )
2018
7
Non-invasive method of monitoring retinal vasculitis in patients with birdshot chorioretinopathy using optical coherence tomography. ( 28844053 )
2018
8
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
9
Non-Occlusive Retinal Vascular Inflammation and Role of Red Blood Cell Deformability in Birdshot Chorioretinopathy. ( 29985708 )
2018
10
ADALIMUMAB THERAPY FOR REFRACTORY BIRDSHOT CHORIORETINOPATHY. ( 30067605 )
2018
11
Use of En Face Swept-Source Optical Coherence Tomography Angiography in Identifying Choroidal Flow Voids in 3 Patients With Birdshot Chorioretinopathy. ( 30128478 )
2018
12
Dexamethasone implantation in birdshot chorioretinopathy - long-term outcome. ( 30555265 )
2018
13
Five-year trends in multifocal electroretinogram for patients with birdshot chorioretinopathy. ( 30557530 )
2018
14
NUT carcinoma of the sinonasal tract infiltrating the orbit in a man with birdshot chorioretinitis. ( 29755274 )
2018
15
INTRAVITREAL DEXAMETHASONE IMPLANTATION FOR BIRDSHOT CHORIORETINOPATHY. ( 26982209 )
2017
16
Th17 and regulatory T cells are increased in blood of patients with birdshot chorioretinopathy. ( 27009556 )
2017
17
In Response to: "Baddar D, Goldstein DA. HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient". ( 27014945 )
2017
18
Authors reply to Letter to the Editor-In Response to: "Baddar D, Goldstein DA. HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient". ( 27015040 )
2017
19
WALDENSTRÖM'S MACROGLOBULINEMIA MASQUERADING AS BIRDSHOT CHORIORETINOPATHY. ( 27124793 )
2017
20
Efficacy of Methylprednisolone Pulse Followed by Oral Prednisone in Birdshot Chorioretinopathy. ( 27380253 )
2017
21
CLINICOPATHOLOGICAL CORRELATION IN A PATIENT WITH PREVIOUSLY TREATED BIRDSHOT CHORIORETINOPATHY. ( 27465484 )
2017
22
Assessment of retinal vascular calibres as a biomarker of disease activity in birdshot chorioretinopathy. ( 27494951 )
2017
23
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF A29 BIRDSHOT CHORIORETINOPATHY COMPLICATED BY RETINAL NEOVASCULARIZATION. ( 27632586 )
2017
24
Electroretinogram and visual field changes in a case of birdshot chorioretinopathy. ( 28281104 )
2017
25
Visualization of Photoreceptors in Birdshot Chorioretinopathy Using Adaptive Optics Scanning Laser Ophthalmoscopy: A Pilot Study. ( 28362542 )
2017
26
Analysis of autofluorescence pattern in birdshot chorioretinopathy. ( 28451757 )
2017
27
Choroidal Imaging with Swept-Source Optical Coherence Tomography in Patients with Birdshot Chorioretinopathy: Choroidal Reflectivity and Thickness. ( 28456419 )
2017
28
Feasibility of swept-source OCT for active birdshot chorioretinopathy. ( 28470437 )
2017
29
INCREASED PHOTORECEPTOR OUTER SEGMENT VOLUME FOLLOWING SYSTEMIC TREATMENT OF BIRDSHOT CHORIORETINOPATHY. ( 28816864 )
2017
30
Birdshot Chorioretinopathy. ( 29144845 )
2017
31
Fundus Autofluorescence Findings in Eyes With Birdshot Chorioretinitis. ( 28800648 )
2017
32
Birdshot Chorioretinitis and Fundus Autofluorescence: Novel Insights Into Disease Pathogenesis. ( 28800649 )
2017
33
HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient. ( 25010254 )
2016
34
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN BIRDSHOT CHORIORETINOPATHY: A NOVEL ASSOCIATION. ( 26421963 )
2016
35
HLA-A29-POSITIVE BIRDSHOT CHORIORETINOPATHY IN AN AFRICAN AMERICAN PATIENT. ( 26579592 )
2016
36
Elevated Serum Immune Mediators and Subclinical Inflammation in HLA-A29-associated Birdshot Chorioretinopathy. ( 26645126 )
2016
37
Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment. ( 27175923 )
2016
38
Choroidal Neovascularization Associated With Birdshot Chorioretinopathy. ( 27183549 )
2016
39
Multimodal imaging of the disease progression of birdshot chorioretinopathy. ( 27230297 )
2016
40
Spatial agreement between Goldmann visual field defects and fundus autofluorescence in patients with birdshot chorioretinopathy. ( 27246316 )
2016
41
Visual response and anatomical changes on sequential spectral-domain optical coherence tomography in birdshot chorioretinopathy treated with local corticosteroid therapy. ( 27847627 )
2016
42
BIRDSHOT CHORIORETINITIS LESIONS ON INDOCYANINE GREEN ANGIOGRAPHY AS AN INDICATOR OF DISEASE ACTIVITY. ( 26977742 )
2016
43
Choroidal Findings in Eyes With Birdshot Chorioretinitis Using Enhanced-Depth Optical Coherence Tomography. ( 27599125 )
2016
44
Topical difluprednate for the treatment of retinal vasculitis associated with birdshot chorioretinitis. ( 29503901 )
2016
45
Mycophenolic acid in the treatment of birdshot chorioretinopathy: long-term follow-up. ( 25061107 )
2015
46
The immunopathogenesis of birdshot chorioretinopathy; a bird of many feathers. ( 25434765 )
2015
47
Multifocal electroretinogram in birdshot chorioretinopathy. ( 25635576 )
2015
48
Pointwise linear regression analysis of serial Humphrey visual fields and a correlation with electroretinography in birdshot chorioretinopathy. ( 25637598 )
2015
49
Choroidal degeneration in birdshot chorioretinopathy. ( 25811950 )
2015
50
Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy. ( 25861398 )
2015

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

Cellular components related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 8.92 HLA-A KIR2DL1 KIR3DL1 LNPEP

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.62 HLA-A IL17A KIR2DL1 KIR3DL1
2 immune system process GO:0002376 9.61 ERAP1 ERAP2 HLA-A
3 regulation of immune response GO:0050776 9.54 HLA-A KIR2DL1 KIR3DL1
4 regulation of blood pressure GO:0008217 9.4 ERAP1 ERAP2
5 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.26 HLA-A LNPEP
6 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.16 ERAP1 ERAP2
7 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.13 ERAP1 ERAP2 HLA-A
8 peptide catabolic process GO:0043171 8.8 ERAP1 ERAP2 LNPEP

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.5 ERAP1 ERAP2 LNPEP
2 metallopeptidase activity GO:0008237 9.43 ERAP1 ERAP2 LNPEP
3 peptide binding GO:0042277 9.33 ERAP1 ERAP2 LNPEP
4 aminopeptidase activity GO:0004177 9.13 ERAP1 ERAP2 LNPEP
5 metalloaminopeptidase activity GO:0070006 8.8 ERAP1 ERAP2 LNPEP

Sources for Birdshot Chorioretinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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