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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
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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: 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
Birdshot chorioretinopathy.
Shao EH, Menezo V, Taylor SR
Curr Opin Ophthalmol 2014 Nov;25(6):488-94. doi: 10.1097/ICU.0000000000000101. PMID: 25211040

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
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.
Monnet D, Brézin AP
Curr Opin Ophthalmol 2006 Dec;17(6):545-50. doi: 10.1097/ICU.0b013e3280109479. PMID: 17065923
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
ADALIMUMAB THERAPY FOR REFRACTORY BIRDSHOT CHORIORETINOPATHY.
Huis Het Veld PI, van Asten F, Kuijpers RWAM, Rothova A, de Jong EK, Hoyng CB
Retina 2019 Nov;39(11):2189-2197. doi: 10.1097/IAE.0000000000002281. PMID: 30067605
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
Immunosuppressive therapy for ocular diseases.
Jap A, Chee SP
Curr Opin Ophthalmol 2008 Nov;19(6):535-40. doi: 10.1097/ICU.0b013e3283126d20. PMID: 18854699
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

Prognosis

Late recurrence in birdshot chorioretinopathy.
Maleki A, Look-Why S, Manhapra A, Asgari S, Philip AM, Chang PY, Anesi SD, Foster CS
Can J Ophthalmol 2023 Apr;58(2):77-81. Epub 2021 Sep 14 doi: 10.1016/j.jcjo.2021.08.006. PMID: 34534507
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
Birdshot chorioretinopathy.
Monnet D, Brézin AP
Curr Opin Ophthalmol 2006 Dec;17(6):545-50. doi: 10.1097/ICU.0b013e3280109479. PMID: 17065923
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
The white dot syndromes.
Quillen DA, Davis JB, Gottlieb JL, Blodi BA, Callanan DG, Chang TS, Equi RA
Am J Ophthalmol 2004 Mar;137(3):538-50. doi: 10.1016/j.ajo.2004.01.053. PMID: 15013878

Clinical prediction guides

Birdshot Chorioretinopathy: Resistant versus Responsive.
Maleki A, Look-Why S, Manhapra A, Asgari S, Garcia CM, Al-Dabbagh A, Tsang C, Chang PY, Anesi SD, Foster CS
Ocul Immunol Inflamm 2023 Apr;31(3):477-482. Epub 2022 Mar 30 doi: 10.1080/09273948.2022.2032193. PMID: 35353656
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 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

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