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Abnormal chorioretinal morphology

MedGen UID:
871350
Concept ID:
C4025844
Anatomical Abnormality
Synonym: Chorioretinal abnormality
 
HPO: HP:0000532

Definition

An abnormality of the choroid and retina. [from HPO]

Conditions with this feature

Birdshot chorioretinopathy
MedGen UID:
340098
Concept ID:
C1853959
Disease or Syndrome
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.

Professional guidelines

PubMed

Saito T, Ohguro N, Iwahashi C, Hashida N
Graefes Arch Clin Exp Ophthalmol 2016 Dec;254(12):2319-2326. Epub 2016 Jun 1 doi: 10.1007/s00417-016-3395-x. PMID: 27251192
Ouyang Y, Heussen FM, Keane PA, Sadda SR, Walsh AC
Invest Ophthalmol Vis Sci 2013 Feb 19;54(2):1460-8. doi: 10.1167/iovs.12-10727. PMID: 23322579Free PMC Article
El Chehadeh S, Aral B, Gigot N, Thauvin-Robinet C, Donzel A, Delrue MA, Lacombe D, David A, Burglen L, Philip N, Moncla A, Cormier-Daire V, Rio M, Edery P, Verloes A, Bonneau D, Afenjar A, Jacquette A, Heron D, Sarda P, Pinson L, Doray B, Vigneron J, Leheup B, Frances-Guidet AM, Dienne G, Holder M, Masurel-Paulet A, Huet F, Teyssier JR, Faivre L
J Med Genet 2010 Aug;47(8):549-53. doi: 10.1136/jmg.2009.075028. PMID: 20656880

Recent clinical studies

Etiology

Šulavíková Z, Krásnik V
Cesk Slov Oftalmol 2023 Fall;79(5):268-272. doi: 10.31348/2023/31. PMID: 37993275
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Nichani P, Micieli JA
Ophthalmol Retina 2021 May;5(5):429-437. Epub 2020 Aug 26 doi: 10.1016/j.oret.2020.08.016. PMID: 32860958
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Saw SM, Gazzard G, Shih-Yen EC, Chua WH
Ophthalmic Physiol Opt 2005 Sep;25(5):381-91. doi: 10.1111/j.1475-1313.2005.00298.x. PMID: 16101943

Diagnosis

Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Nichani P, Micieli JA
Ophthalmol Retina 2021 May;5(5):429-437. Epub 2020 Aug 26 doi: 10.1016/j.oret.2020.08.016. PMID: 32860958
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article
Singh P, Goraya JS, Saggar K, Ahluwalia A
Singapore Med J 2012 Jul;53(7):e153-5. PMID: 22815034

Therapy

Ronchi A, Zeray F, Lee LE, Owen KE, Shoup AG, Garcia F, Vazquez LN, Cantey JB, Varghese S, Pugni L, Mosca F, Sánchez PJ
J Perinatol 2020 Jan;40(1):89-96. Epub 2019 Oct 1 doi: 10.1038/s41372-019-0501-z. PMID: 31575999Free PMC Article
Marquezan MC, Nascimento H, Dalbem D, Muccioli C, Belfort R
Ocul Immunol Inflamm 2020 Apr 2;28(3):402-408. Epub 2019 May 23 doi: 10.1080/09273948.2019.1588982. PMID: 31120768
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Borooah S, Collins C, Wright A, Dhillon B
Br J Ophthalmol 2009 Mar;93(3):284-9. Epub 2008 Dec 19 doi: 10.1136/bjo.2008.150151. PMID: 19098033
Strom T, Schneck SA
Neurology 1991 Feb;41(2 ( Pt 1)):325-6. doi: 10.1212/wnl.41.2_part_1.325. PMID: 1812840

Prognosis

Masnada S, Pichiecchio A, Formica M, Arrigoni F, Borrelli P, Accorsi P, Bonanni P, Borgatti R, Bernardina BD, Danieli A, Darra F, Deconinck N, De Giorgis V, Dulac O, Gataullina S, Giordano L, Guerrini R, La Briola F, Mastrangelo M, Montomoli M, Mortilla M, Osanni E, Parisi P, Perucca E, Pinelli L, Romaniello R, Severino M, Vigevano F, Vignoli A, Bahi-Buisson N, Cavallin M, Accogli A, Burgeois M, Capra V, Chaves-Vischer V, Chiapparini L, Colafati G, D'Arrigo S, Desguerre I, Doco-Fenzy M, d'Orsi G, Epitashvili N, Fazzi E, Ferretti A, Fiorini E, Fradin M, Fusco C, Granata T, Johannesen KM, Lebon S, Loget P, Moller RS, Montanaro D, Orcesi S, Quelin C, Rebessi E, Romeo A, Solazzi R, Spagnoli C, Uebler C, Zara F, Arzimanoglou A, Veggiotti P; Aicardi Syndrome International Study Group
Neurology 2021 Mar 2;96(9):e1319-e1333. Epub 2020 Dec 4 doi: 10.1212/WNL.0000000000011237. PMID: 33277420Free PMC Article
Nichani P, Micieli JA
Ophthalmol Retina 2021 May;5(5):429-437. Epub 2020 Aug 26 doi: 10.1016/j.oret.2020.08.016. PMID: 32860958
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Singh S, Kumar A
Viruses 2018 Sep 28;10(10) doi: 10.3390/v10100530. PMID: 30274199Free PMC Article
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article

Clinical prediction guides

Masnada S, Pichiecchio A, Formica M, Arrigoni F, Borrelli P, Accorsi P, Bonanni P, Borgatti R, Bernardina BD, Danieli A, Darra F, Deconinck N, De Giorgis V, Dulac O, Gataullina S, Giordano L, Guerrini R, La Briola F, Mastrangelo M, Montomoli M, Mortilla M, Osanni E, Parisi P, Perucca E, Pinelli L, Romaniello R, Severino M, Vigevano F, Vignoli A, Bahi-Buisson N, Cavallin M, Accogli A, Burgeois M, Capra V, Chaves-Vischer V, Chiapparini L, Colafati G, D'Arrigo S, Desguerre I, Doco-Fenzy M, d'Orsi G, Epitashvili N, Fazzi E, Ferretti A, Fiorini E, Fradin M, Fusco C, Granata T, Johannesen KM, Lebon S, Loget P, Moller RS, Montanaro D, Orcesi S, Quelin C, Rebessi E, Romeo A, Solazzi R, Spagnoli C, Uebler C, Zara F, Arzimanoglou A, Veggiotti P; Aicardi Syndrome International Study Group
Neurology 2021 Mar 2;96(9):e1319-e1333. Epub 2020 Dec 4 doi: 10.1212/WNL.0000000000011237. PMID: 33277420Free PMC Article
Nichani P, Micieli JA
Ophthalmol Retina 2021 May;5(5):429-437. Epub 2020 Aug 26 doi: 10.1016/j.oret.2020.08.016. PMID: 32860958
Singh S, Kumar A
Viruses 2018 Sep 28;10(10) doi: 10.3390/v10100530. PMID: 30274199Free PMC Article
Pian D, Ferrucci S, Anderson SF, Wu C
Optom Vis Sci 2003 Aug;80(8):556-63. doi: 10.1097/00006324-200308000-00008. PMID: 12917574
Rothova A, Ooijman F, Kerkhoff F, Van Der Lelij A, Lokhorst HM
Ophthalmology 2001 Feb;108(2):386-99. doi: 10.1016/s0161-6420(00)00499-1. PMID: 11158819

Recent systematic reviews

Borooah S, Collins C, Wright A, Dhillon B
Br J Ophthalmol 2009 Mar;93(3):284-9. Epub 2008 Dec 19 doi: 10.1136/bjo.2008.150151. PMID: 19098033

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