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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.
See: Condition Record
Birdshot chorioretinopathy

Professional guidelines

PubMed

Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.
Kanwar K, Bashey S, Bohnsack BL, Drackley A, Ing A, Rahmani S, Ranaivo HR, McMullen P, Skol A, Yap K, Allegretti V, Rossen JL
Am J Med Genet A 2024 Aug;194(8):e63618. Epub 2024 Apr 10 doi: 10.1002/ajmg.a.63618. PMID: 38597178
Optical coherence tomography manifestations of primary vitreoretinal lymphoma.
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
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
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

Mitochondrial Retinopathy.
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
Vogt-Koyanagi-Harada Syndrome in Brazilian Children.
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
Subacute sclerosing panencephalitis.
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
Anterior cervical hypertrichosis: a case report and review of the literature.
Megna M, Balato N, Patruno C, Ayala F
Pediatr Dermatol 2015 Mar-Apr;32(2):252-5. Epub 2014 Jun 11 doi: 10.1111/pde.12364. PMID: 24916369
Macular complications associated with posterior staphyloma.
Steidl SM, Pruett RC
Am J Ophthalmol 1997 Feb;123(2):181-7. doi: 10.1016/s0002-9394(14)71034-7. PMID: 9186123

Diagnosis

Mitochondrial Retinopathy.
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
Vogt-Koyanagi-Harada Syndrome in Brazilian Children.
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
Subacute sclerosing panencephalitis.
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
Aicardi syndrome.
Singh P, Goraya JS, Saggar K, Ahluwalia A
Singapore Med J 2012 Jul;53(7):e153-5. PMID: 22815034
Hereditary macular coloboma.
Phillips CI
J Med Genet 1970 Sep;7(3):224-6. doi: 10.1136/jmg.7.3.224. PMID: 4992343Free PMC Article

Therapy

Vogt-Koyanagi-Harada Syndrome in Brazilian Children.
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
Subacute sclerosing panencephalitis.
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
Syphilitic meningomyelitis.
Strom T, Schneck SA
Neurology 1991 Feb;41(2 ( Pt 1)):325-6. doi: 10.1212/wnl.41.2_part_1.325. PMID: 1812840
Clinical and biochemical heterogeneity in gyrate atrophy.
Kaiser-Kupfer MI, Valle D, Bron AJ
Am J Ophthalmol 1980 Feb;89(2):219-22. doi: 10.1016/0002-9394(80)90114-2. PMID: 7355975
Intraocular treponemes.
Christman EH, Hamilton RW, Heaton CL, Hoffmeyer IM
Arch Ophthalmol 1968 Sep;80(3):303-7. doi: 10.1001/archopht.1968.00980050305002. PMID: 4876373

Prognosis

Retinal Manifestations of Idiopathic Intracranial Hypertension.
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
Vogt-Koyanagi-Harada Syndrome in Brazilian Children.
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
Subacute sclerosing panencephalitis.
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
Syphilitic meningomyelitis.
Strom T, Schneck SA
Neurology 1991 Feb;41(2 ( Pt 1)):325-6. doi: 10.1212/wnl.41.2_part_1.325. PMID: 1812840
Intrauterine herpes simplex virus infections.
Hutto C, Arvin A, Jacobs R, Steele R, Stagno S, Lyrene R, Willett L, Powell D, Andersen R, Werthammer J
J Pediatr 1987 Jan;110(1):97-101. doi: 10.1016/s0022-3476(87)80298-6. PMID: 3794894

Clinical prediction guides

Relationship of Choroidal Vasculature and Choriocapillaris Flow With Alterations of Salivary α-Amylase Patterns in Central Serous Chorioretinopathy.
Scarinci F, Patacchioli FR, Costanzo E, Parravano M
Invest Ophthalmol Vis Sci 2021 Dec 1;62(15):19. doi: 10.1167/iovs.62.15.19. PMID: 34932061Free PMC Article
Retinal Manifestations of Idiopathic Intracranial Hypertension.
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
Paramacular coloboma.
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
Macular complications associated with posterior staphyloma.
Steidl SM, Pruett RC
Am J Ophthalmol 1997 Feb;123(2):181-7. doi: 10.1016/s0002-9394(14)71034-7. PMID: 9186123
Predicting the outcome of symptomatic congenital cytomegalovirus infection.
Jones CA, Isaacs D
J Paediatr Child Health 1995 Apr;31(2):70-1. doi: 10.1111/j.1440-1754.1995.tb00749.x. PMID: 7794627

Recent systematic reviews

Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration.
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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