U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Birdshot chorioretinopathy

MedGen UID:
340098
•Concept ID:
C1853959
•
Disease or Syndrome
Synonyms: Birdshot retinochoroidopathy; Multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk
SNOMED CT: Vitiliginous chorioretinitis (231981005); Birdshot retinochoroidopathy (231981005); Birdshot chorioretinitis (231981005)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
HPO: HP:0030952
Monarch Initiative: MONDO:0011599
OMIM®: 605808
Orphanet: ORPHA179

Definition

Multiple cream-yellow colored hypopigmented lesions typically located at the level of the choroid or retinal pigment epithelium; ovoid, cream-colored with indistinct borders. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus. [from HPO]

Clinical features

From HPO
Posterior uveitis
MedGen UID:
22597
•Concept ID:
C0042167
•
Disease or Syndrome
Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.
See: Feature record | Search on this feature
Vitreous floaters
MedGen UID:
5217
•Concept ID:
C0016242
•
Finding
Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.
See: Feature record | Search on this feature
Vitritis
MedGen UID:
68620
•Concept ID:
C0235812
•
Disease or Syndrome
Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.
See: Feature record | Search on this feature
Retinal pigment epithelial atrophy
MedGen UID:
333564
•Concept ID:
C1840457
•
Finding
Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
See: Feature record | Search on this feature
Visual impairment
MedGen UID:
777085
•Concept ID:
C3665347
•
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
See: Feature record | Search on this feature
Abnormal chorioretinal morphology
MedGen UID:
871350
•Concept ID:
C4025844
•
Anatomical Abnormality
An abnormality of the choroid and retina.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBirdshot chorioretinopathy
Follow this link to review classifications for Birdshot chorioretinopathy in Orphanet.

Professional guidelines

PubMed

IL-6 blockade in the management of non-infectious uveitis.
Lopalco G, Fabiani C, Sota J, Lucherini OM, Tosi GM, Frediani B, Iannone F, Galeazzi M, Franceschini R, Rigante D, Cantarini L
Clin Rheumatol 2017 Jul;36(7):1459-1469. Epub 2017 May 20 doi: 10.1007/s10067-017-3672-z. PMID: 28528519
Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment.
Minos E, Barry RJ, Southworth S, Folkard A, Murray PI, Duker JS, Keane PA, Denniston AK
Orphanet J Rare Dis 2016 May 12;11(1):61. doi: 10.1186/s13023-016-0429-8. PMID: 27175923Free PMC Article
Research criteria for the diagnosis of birdshot chorioretinopathy: results of an international consensus conference.
Levinson RD, Brezin A, Rothova A, Accorinti M, Holland GN
Am J Ophthalmol 2006 Jan;141(1):185-7. doi: 10.1016/j.ajo.2005.08.025. PMID: 16386995

Recent clinical studies

Etiology

Progress in the genetics of uveitis.
Huang XF, Brown MA
Genes Immun 2022 Apr;23(2):57-65. Epub 2022 Apr 4 doi: 10.1038/s41435-022-00168-6. PMID: 35379982Free PMC Article
Anti-Tumor Necrosis Factor α versus Tocilizumab in the Treatment of Refractory Uveitic Macular Edema: A Multicenter Study from the French Uveitis Network.
Leclercq M, Andrillon A, Maalouf G, Sève P, Bielefeld P, Gueudry J, Sené T, Moulinet T, Rouvière B, Sène D, Desbois AC, Domont F, Touhami S, El Chamieh C, Cacoub P, Bodaghi B, Biard L, Saadoun D
Ophthalmology 2022 May;129(5):520-529. Epub 2021 Nov 16 doi: 10.1016/j.ophtha.2021.11.013. PMID: 34793830
Activation of the interleukin-23/interleukin-17 signalling pathway in autoinflammatory and autoimmune uveitis.
Zhong Z, Su G, Kijlstra A, Yang P
Prog Retin Eye Res 2021 Jan;80:100866. Epub 2020 May 16 doi: 10.1016/j.preteyeres.2020.100866. PMID: 32422390
Birdshot chorioretinopathy.
Shao EH, Menezo V, Taylor SR
Curr Opin Ophthalmol 2014 Nov;25(6):488-94. doi: 10.1097/ICU.0000000000000101. PMID: 25211040
The white dot syndromes.
Matsumoto Y, Haen SP, Spaide RF
Compr Ophthalmol Update 2007 Jul-Aug;8(4):179-200; discussion 203-4. PMID: 17999832

Diagnosis

Activation of the interleukin-23/interleukin-17 signalling pathway in autoinflammatory and autoimmune uveitis.
Zhong Z, Su G, Kijlstra A, Yang P
Prog Retin Eye Res 2021 Jan;80:100866. Epub 2020 May 16 doi: 10.1016/j.preteyeres.2020.100866. PMID: 32422390
The diagnostic usefulness of the negative electroretinogram.
Fuente García C, González-López JJ, Muñoz-Negrete FJ, Rebolleda G
Arch Soc Esp Oftalmol (Engl Ed) 2018 Mar;93(3):126-135. Epub 2017 Dec 6 doi: 10.1016/j.oftal.2017.10.006. PMID: 29198644
Birdshot Chorioretinopathy.
Cunningham ET, Levinson RD, Denniston AK, Brézin AP, Zierhut M
Ocul Immunol Inflamm 2017 Oct;25(5):589-593. doi: 10.1080/09273948.2017.1400800. PMID: 29144845
Birdshot chorioretinopathy.
Shao EH, Menezo V, Taylor SR
Curr Opin Ophthalmol 2014 Nov;25(6):488-94. doi: 10.1097/ICU.0000000000000101. PMID: 25211040
Birdshot chorioretinopathy.
Shah KH, Levinson RD, Yu F, Goldhardt R, Gordon LK, Gonzales CR, Heckenlively JR, Kappel PJ, Holland GN
Surv Ophthalmol 2005 Nov-Dec;50(6):519-41. doi: 10.1016/j.survophthal.2005.08.004. PMID: 16263368

Therapy

Anti-Tumor Necrosis Factor α versus Tocilizumab in the Treatment of Refractory Uveitic Macular Edema: A Multicenter Study from the French Uveitis Network.
Leclercq M, Andrillon A, Maalouf G, Sève P, Bielefeld P, Gueudry J, Sené T, Moulinet T, Rouvière B, Sène D, Desbois AC, Domont F, Touhami S, El Chamieh C, Cacoub P, Bodaghi B, Biard L, Saadoun D
Ophthalmology 2022 May;129(5):520-529. Epub 2021 Nov 16 doi: 10.1016/j.ophtha.2021.11.013. PMID: 34793830
The roles of ERAP1 and ERAP2 in autoimmunity and cancer immunity: New insights and perspective.
Babaie F, Hosseinzadeh R, Ebrazeh M, Seyfizadeh N, Aslani S, Salimi S, Hemmatzadeh M, Azizi G, Jadidi-Niaragh F, Mohammadi H
Mol Immunol 2020 May;121:7-19. Epub 2020 Mar 2 doi: 10.1016/j.molimm.2020.02.020. PMID: 32135401
Birdshot-like Chorioretinopathy Associated With Pembrolizumab Treatment.
Acaba-Berrocal LA, Lucio-Alvarez JA, Mashayekhi A, Ho AC, Dunn JP, Shields CL
JAMA Ophthalmol 2018 Oct 1;136(10):1205-1207. doi: 10.1001/jamaophthalmol.2018.1851. PMID: 30054605
Birdshot Chorioretinopathy.
Cunningham ET, Levinson RD, Denniston AK, Brézin AP, Zierhut M
Ocul Immunol Inflamm 2017 Oct;25(5):589-593. doi: 10.1080/09273948.2017.1400800. PMID: 29144845
IL-6 blockade in the management of non-infectious uveitis.
Lopalco G, Fabiani C, Sota J, Lucherini OM, Tosi GM, Frediani B, Iannone F, Galeazzi M, Franceschini R, Rigante D, Cantarini L
Clin Rheumatol 2017 Jul;36(7):1459-1469. Epub 2017 May 20 doi: 10.1007/s10067-017-3672-z. PMID: 28528519

Prognosis

Peripheral Capillary Non-perfusion in Birdshot Retinochoroiditis: A Novel Finding on Ultra-widefield Fluorescein Angiography.
Testi I, Ajamil-Rodanes S, AlBloushi AF, Pavesio C
Ocul Immunol Inflamm 2020 Nov 16;28(8):1192-1195. Epub 2020 May 29 doi: 10.1080/09273948.2020.1758157. PMID: 32469666
Outcomes of "Early" Withdrawal of Corticosteroid Sparing Immunomodulatory Therapy for Birdshot Retinochoroidopathy.
You C, Meese H, Stephenson A, Montieth A, Ma L, Hernandez M, Kubaisi B, Syeda S, Foster CS
Ocul Immunol Inflamm 2019;27(7):1165-1173. Epub 2018 Sep 12 doi: 10.1080/09273948.2018.1506040. PMID: 30207810
Choroidal Thickness in Birdshot Retinochoroiditis Over a 2-Year Period.
Forte R, Aptel F, Thia-Soui-Tchong K, Salmon L, Mailhac A, Bouillet L, Chiquet C
Ophthalmologica 2019;241(1):49-55. Epub 2018 Jun 19 doi: 10.1159/000485665. PMID: 29920484
Choroidal degeneration in birdshot chorioretinopathy.
Young M, Fallah N, Forooghian F
Retina 2015 Apr;35(4):798-802. doi: 10.1097/IAE.0000000000000489. PMID: 25811950
Birdshot chorioretinopathy.
Monnet D, Brézin AP
Curr Opin Ophthalmol 2006 Dec;17(6):545-50. doi: 10.1097/ICU.0b013e3280109479. PMID: 17065923

Clinical prediction guides

Anti-Tumor Necrosis Factor α versus Tocilizumab in the Treatment of Refractory Uveitic Macular Edema: A Multicenter Study from the French Uveitis Network.
Leclercq M, Andrillon A, Maalouf G, Sève P, Bielefeld P, Gueudry J, Sené T, Moulinet T, Rouvière B, Sène D, Desbois AC, Domont F, Touhami S, El Chamieh C, Cacoub P, Bodaghi B, Biard L, Saadoun D
Ophthalmology 2022 May;129(5):520-529. Epub 2021 Nov 16 doi: 10.1016/j.ophtha.2021.11.013. PMID: 34793830
Reproducibility of Full-field Electroretinogram Measurements in Birdshot Chorioretinopathy Patients: An Intra- and Inter-visit Analysis.
Knickelbein JE, Jeffrey BG, Wei MM, Cheng SK, Kesav N, Vitale S, Sen HN
Ocul Immunol Inflamm 2021 Jul 4;29(5):848-853. Epub 2020 Jan 4 doi: 10.1080/09273948.2019.1697824. PMID: 31902265Free PMC Article
The diagnostic usefulness of the negative electroretinogram.
Fuente García C, González-López JJ, Muñoz-Negrete FJ, Rebolleda G
Arch Soc Esp Oftalmol (Engl Ed) 2018 Mar;93(3):126-135. Epub 2017 Dec 6 doi: 10.1016/j.oftal.2017.10.006. PMID: 29198644
HLA-A29 and birdshot chorioretinopathy.
Brézin AP, Monnet D, Cohen JH, Levinson RD
Ocul Immunol Inflamm 2011 Dec;19(6):397-400. doi: 10.3109/09273948.2011.619295. PMID: 22106906
Birdshot chorioretinopathy.
Monnet D, Brézin AP
Curr Opin Ophthalmol 2006 Dec;17(6):545-50. doi: 10.1097/ICU.0b013e3280109479. PMID: 17065923

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...