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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.
 
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.
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.
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.
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.
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.
Abnormal chorioretinal morphology
MedGen UID:
871350
Concept ID:
C4025844
Anatomical Abnormality
An abnormality of the choroid and retina.

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

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
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
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

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

Diagnosis

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
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
Shao EH, Menezo V, Taylor SR
Curr Opin Ophthalmol 2014 Nov;25(6):488-94. doi: 10.1097/ICU.0000000000000101. PMID: 25211040
Monnet D, Brézin AP
Curr Opin Ophthalmol 2006 Dec;17(6):545-50. doi: 10.1097/ICU.0b013e3280109479. PMID: 17065923
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

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
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
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
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
Matsumoto Y, Haen SP, Spaide RF
Compr Ophthalmol Update 2007 Jul-Aug;8(4):179-200; discussion 203-4. PMID: 17999832

Prognosis

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
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
Matsumoto Y, Haen SP, Spaide RF
Compr Ophthalmol Update 2007 Jul-Aug;8(4):179-200; discussion 203-4. PMID: 17999832
Monnet D, Brézin AP
Curr Opin Ophthalmol 2006 Dec;17(6):545-50. doi: 10.1097/ICU.0b013e3280109479. PMID: 17065923
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

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
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
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
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
Monnet D, Brézin AP
Curr Opin Ophthalmol 2006 Dec;17(6):545-50. doi: 10.1097/ICU.0b013e3280109479. PMID: 17065923

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