BSCR
MCID: BRD025
MIFTS: 46

Birdshot Chorioretinopathy (BSCR)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Birdshot Chorioretinopathy

MalaCards integrated aliases for Birdshot Chorioretinopathy:

Name: Birdshot Chorioretinopathy 57 12 75 53 59 44 15 72
Birdshot Chorioretinitis 12 53 59 72
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


External Ids:

Disease Ontology 12 DOID:0111079
OMIM 57 605808
MeSH 44 C537630
MESH via Orphanet 45 C537630
ICD10 via Orphanet 34 H30.1
UMLS via Orphanet 73 C1853959
Orphanet 59 ORPHA179
MedGen 42 C1853959
UMLS 72 C0339402 C1853959

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 spondyloarthropathy and spondylitis. 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 tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and t cells, 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 : 75 Birdshot chorioretinopathy now commonly named "birdshot uveitis" or "HLA-A29 uveitis" is a rare form of... more...

More information from OMIM: 605808

Related Diseases for Birdshot Chorioretinopathy

Diseases related to Birdshot Chorioretinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 spondyloarthropathy 29.7 IL17A HLA-A
2 spondylitis 29.5 IL17A ERAP2 ERAP1
3 vogt-koyanagi-harada disease 29.5 IL17A HLA-A
4 panuveitis 29.4 IL17A HLA-A ERAP1
5 uveitis 10.9
6 macular retinal edema 10.8
7 vasculitis 10.7
8 posterior uveitis 10.7
9 retinal vasculitis 10.7
10 retinal vascular disease 10.6
11 pars planitis 10.6
12 chorioretinitis 10.5
13 retinitis pigmentosa 10.5
14 optic papillitis 10.5
15 sarcoidosis 1 10.4
16 autoimmune disease 10.4
17 retinal detachment 10.4
18 scleritis 10.4
19 posterior scleritis 10.4
20 choroiditis 10.4
21 cataract 10.4
22 scotoma 10.4
23 spondyloarthropathy 1 10.3
24 3-methylglutaconic aciduria, type iii 10.3
25 hydrops, lactic acidosis, and sideroblastic anemia 10.3
26 inflammatory spondylopathy 10.3
27 syphilis 10.3
28 pustulosis of palm and sole 10.3
29 retinal disease 10.3
30 retinal degeneration 10.3
31 psoriasis 10.3
32 ocular hypertension 10.3
33 anterior uveitis 10.3
34 pik3ca-related overgrowth syndrome 10.3
35 hemochromatosis, type 1 10.2
36 nonarteritic anterior ischemic optic neuropathy 10.2
37 yemenite deaf-blind hypopigmentation syndrome 10.2
38 macular degeneration, age-related, 1 10.2
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
40 lymphoma 10.2
41 sensorineural hearing loss 10.2
42 pancytopenia 10.2
43 rubeosis iridis 10.2
44 iritis 10.2
45 optic nerve disease 10.2
46 intraocular lymphoma 10.2
47 night blindness 10.2
48 neuropathy 10.2
49 eales disease 10.2
50 neuroretinitis 10.2

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:

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

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

Drugs & Therapeutics for Birdshot Chorioretinopathy

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 2 1401-55-4
2
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
3
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
4 Antibodies Phase 2
5 Immunologic Factors Phase 2
6 Antibodies, Monoclonal Phase 2
7 Immunoglobulins Phase 2
8 Hormone Antagonists Phase 2
9 Hormones Phase 2
10 glucocorticoids Phase 2
11 Anti-Inflammatory Agents Phase 2
12 Antineoplastic Agents, Hormonal Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
14 Interferon alpha-2 Phase 2
15 Interferon-alpha Phase 2
16 Anti-Infective Agents Phase 2
17 interferons Phase 2
18 Antiviral Agents Phase 2
19
Methotrexate Approved 1959-05-2, 59-05-2 126941
20
leucovorin Approved 58-05-9 143 6006
21
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
22 Folic Acid Antagonists
23 Vitamin B9
24 Nucleic Acid Synthesis Inhibitors
25 Folate
26 Vitamin B Complex
27 Immunosuppressive Agents
28 Dermatologic Agents
29 Antimetabolites, Antineoplastic
30 Antimetabolites
31 Antirheumatic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label Proof-of-concept Study With a Double-masked, Dose-ranging Component to Assess the Effects of AIN457 in Patients With Noninfectious Uveitis Completed NCT00685399 Phase 2 AIN457;AIN 457;AIN457
2 Evaluation of Birdshot RETINE CHOROIDOPATHY Treatment by Either Steroid or Interferon alpha2a Completed NCT00508040 Phase 2 interferon alpha 2a;prednisone
3 Clinical Study on the Regulatory T Cells in the Uveitis Patients Treated by Methotrexate Completed NCT01306474
4 Influence of Elevated Baseline Serum Creatinine and Body Composition on Acute Kidney Injury in Cardiac Surgery - The InCreAS Trial Recruiting NCT02598271

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, Kidney, Testes, Endothelial

Publications for Birdshot Chorioretinopathy

Articles related to Birdshot Chorioretinopathy:

(show top 50) (show all 206)
# Title Authors PMID Year
1
Spontaneous retinopathy in HLA-A29 transgenic mice. 38 8
11226280 2001
2
Visual acuity loss and development of ocular complications in white dot syndromes: a longitudinal analysis of 3 centers. 38
31385033 2019
3
The genetics, structure and function of the M1 aminopeptidase oxytocinase subfamily and their therapeutic potential in immune-mediated disease. 38
30419264 2019
4
Implications of Birdshot-Like Uveitis on the Pathogenesis of Birdshot Chorioretinopathy. 38
30869756 2019
5
Implications of Birdshot-Like Uveitis on the Pathogenesis of Birdshot Chorioretinopathy-Reply. 38
30869757 2019
6
Five-Year Trends in Multifocal Electroretinogram for Patients With Birdshot Chorioretinopathy. 38
30557530 2019
7
Endophthalmitis following cataract surgery and intracameral antibiotic: Moxifloxacin resistant Staphylococcus epidermidis. 38
30662972 2019
8
EVALUATION OF PHOTORECEPTORS, RETINAL CAPILLARY PLEXUSES, AND CHORIOCAPILLARIS IN PATIENTS WITH BIRDSHOT CHORIORETINOPATHY. 38
30789462 2019
9
Unilateral Birdshot Chorioretinopathy in an Elderly Patient. 38
30709079 2019
10
Comparison of choroidal neovascularization secondary to white dot syndromes and age-related macular degeneration by using optical coherence tomography angiography. 38
30643383 2019
11
Use of En Face Swept-Source Optical Coherence Tomography Angiography in Identifying Choroidal Flow Voids in 3 Patients With Birdshot Chorioretinopathy. 38
30128478 2018
12
Allele-specific Alterations in the Peptidome Underlie the Joint Association of HLA-A*29:02 and Endoplasmic Reticulum Aminopeptidase 2 (ERAP2) with Birdshot Chorioretinopathy. 38
29769354 2018
13
TWENTY-FOUR MONTH FOLLOW-UP OF TOCILIZUMAB THERAPY FOR REFRACTORY UVEITIS-RELATED MACULAR EDEMA. 38
28520640 2018
14
Non-Occlusive Retinal Vascular Inflammation and Role of Red Blood Cell Deformability in Birdshot Chorioretinopathy. 38
29985708 2018
15
ADALIMUMAB THERAPY FOR REFRACTORY BIRDSHOT CHORIORETINOPATHY. 38
30067605 2018
16
Adalimumab in refractory cystoid macular edema associated with birdshot chorioretinopathy. 38
28608031 2018
17
Non-invasive method of monitoring retinal vasculitis in patients with birdshot chorioretinopathy using optical coherence tomography. 38
28844053 2018
18
Tocilizumab for the treatment of birdshot uveitis that failed interferon alpha and anti-tumor necrosis factor-alpha therapy: two cases report and literature review. 38
29397459 2018
19
RETINAL CAPILLARY DENSITY IN PATIENTS WITH BIRDSHOT CHORIORETINOPATHY. 38
28196058 2018
20
Dexamethasone implantation in birdshot chorioretinopathy - long-term outcome. 38
30555265 2018
21
How ERAP1 and ERAP2 Shape the Peptidomes of Disease-Associated MHC-I Proteins. 38
30425713 2018
22
NUT carcinoma of the sinonasal tract infiltrating the orbit in a man with birdshot chorioretinitis. 38
29755274 2018
23
Antigen-specificity of antiretinal antibodies in patients with noninfectious uveitis. 38
28985805 2017
24
Efficacy of Anti-IL6-Receptor Tocilizumab in Refractory Cystoid Macular Edema of Birdshot Retinochoroidopathy Report of Two Cases and Literature Review. 38
27726475 2017
25
CLINICOPATHOLOGICAL CORRELATION IN A PATIENT WITH PREVIOUSLY TREATED BIRDSHOT CHORIORETINOPATHY. 38
27465484 2017
26
Birdshot Chorioretinopathy. 38
29144845 2017
27
Efficacy of Methylprednisolone Pulse Followed by Oral Prednisone in Birdshot Chorioretinopathy. 38
27380253 2017
28
Visualization of Photoreceptors in Birdshot Chorioretinopathy Using Adaptive Optics Scanning Laser Ophthalmoscopy: A Pilot Study. 38
28362542 2017
29
INCREASED PHOTORECEPTOR OUTER SEGMENT VOLUME FOLLOWING SYSTEMIC TREATMENT OF BIRDSHOT CHORIORETINOPATHY. 38
28816864 2017
30
Feasibility of swept-source OCT for active birdshot chorioretinopathy. 38
28470437 2017
31
Distinguishing White Dot Syndromes With Patterns of Choroidal Hypoperfusion on Optical Coherence Tomography Angiography. 38
28810039 2017
32
Choroidal Imaging with Swept-Source Optical Coherence Tomography in Patients with Birdshot Chorioretinopathy: Choroidal Reflectivity and Thickness. 38
28456419 2017
33
Fundus Autofluorescence Findings in Eyes With Birdshot Chorioretinitis. 38
28800648 2017
34
Birdshot Chorioretinitis and Fundus Autofluorescence: Novel Insights Into Disease Pathogenesis. 38
28800649 2017
35
The Value of Diagnostic Work-Up in the Evaluation of White Dot Syndromes. 38
28728181 2017
36
IL-6 blockade in the management of non-infectious uveitis. 38
28528519 2017
37
Analysis of autofluorescence pattern in birdshot chorioretinopathy. 38
28451757 2017
38
WALDENSTRÖM'S MACROGLOBULINEMIA MASQUERADING AS BIRDSHOT CHORIORETINOPATHY. 38
27124793 2017
39
In Response to: "Baddar D, Goldstein DA. HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient". 38
27014945 2017
40
Electroretinogram and visual field changes in a case of birdshot chorioretinopathy. 38
28281104 2017
41
Authors reply to Letter to the Editor-In Response to: "Baddar D, Goldstein DA. HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient". 38
27015040 2017
42
Assessment of retinal vascular calibres as a biomarker of disease activity in birdshot chorioretinopathy. 38
27494951 2017
43
Th17 and regulatory T cells are increased in blood of patients with birdshot chorioretinopathy. 38
27009556 2017
44
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF A29 BIRDSHOT CHORIORETINOPATHY COMPLICATED BY RETINAL NEOVASCULARIZATION. 38
27632586 2017
45
INTRAVITREAL DEXAMETHASONE IMPLANTATION FOR BIRDSHOT CHORIORETINOPATHY. 38
26982209 2017
46
New insights into the genetic component of non-infectious uveitis through an Immunochip strategy. 38
27609017 2017
47
Multimodal imaging of the disease progression of birdshot chorioretinopathy. 38
27230297 2016
48
Spatial agreement between Goldmann visual field defects and fundus autofluorescence in patients with birdshot chorioretinopathy. 38
27246316 2016
49
Elevated Serum Immune Mediators and Subclinical Inflammation in HLA-A29-associated Birdshot Chorioretinopathy. 38
26645126 2016
50
DELINEATION OF CHOROIDAL AND RETINAL LESIONS IN POSTERIOR UVEITIS BY MULTISPECTRAL WIDE-FIELD SCANNING LASER OPHTHALMOSCOPY. 38
27152831 2016

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 LNPEP KIR3DL1 KIR2DL1 HLA-A

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

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 LNPEP ERAP2 ERAP1
2 metallopeptidase activity GO:0008237 9.43 LNPEP ERAP2 ERAP1
3 peptide binding GO:0042277 9.33 LNPEP ERAP2 ERAP1
4 aminopeptidase activity GO:0004177 9.13 LNPEP ERAP2 ERAP1
5 metalloaminopeptidase activity GO:0070006 8.8 LNPEP ERAP2 ERAP1

Sources for Birdshot Chorioretinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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