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Enhanced S-cone syndrome (clinical case)
- 作者: Skvortsova N.A.1, Zolnikova I.V.2, Ivanova M.E.3, Skvortsova Y.A.4
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隶属关系:
- Posterior Eye Segment Diagnostics and Surgery Center
- FGBU «Helmholtz Moscow research institute of eye diseases» of Ministry of health of Russian Federation
- Oftalmic genetic testing and CRO company
- State Outpatient Clinic №68, Moscow
- 栏目: Case reports
- ##submission.dateSubmitted##: 25.10.2018
- ##submission.dateAccepted##: 22.11.2018
- URL: https://journals.eco-vector.com/ov/article/view/10372
- DOI: https://doi.org/10.17816/OV10372
- ID: 10372
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全文:
详细
A case of enhanced S-cone syndrome misdiagnosed as idiopathic retinal vasculitis is presented. Etiology, pathogenesis and clinical features are described below.
作者简介
Natalia Skvortsova
Posterior Eye Segment Diagnostics and Surgery Center
编辑信件的主要联系方式.
Email: nat.skvortsova@gmail.com
ORCID iD: 0000-0001-7488-4564
Ophthalmologist
俄罗斯联邦, 111123, Moscow, Russian Federation, 2nd Vladimirskaya str., 2Inna Zolnikova
FGBU «Helmholtz Moscow research institute of eye diseases» of Ministry of health of Russian Federation
Email: innzolnikova@hotmail.com
PhD, Senior research fellow of the department of clinical electrophysiology of vision named after S.V.Kravkov of FGBU «Helmholtz Moscow research institute of eye diseases» of Ministry of health of Russian Federation
俄罗斯联邦, Sadovaya-Chernogriazskaya street, 14/19, Moscow, Russian Federation,105062Marianna Ivanova
Oftalmic genetic testing and CRO company
Email: info@oftalmic.ru
PhD
CEO
俄罗斯联邦, 125167, Moscow, Russian Federation, Leningradskiy avenue, 47, bld 3Yulia Skvortsova
State Outpatient Clinic №68, Moscow
Email: gp.skvortsova.yulia@gmail.com
General practioner
俄罗斯联邦, 119034, Moscow, Russian Federation, 1st Zachatyevsky lane, 1/15参考
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- Audo I, Michaelides M, Robson AG, et al. Phenotypic variation in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci. 2008; 49(5):2082-93. doi: 10.1167/iovs.05-1629.
- Marmor MF, Jacobson SG, Foerster MH, et al. Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol. 1990;110(2):124-134. doi: 10.1016/s0002-9394(14)76980-6.
- Haider NB, Jacobson SG, Cidecyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000;24(2):127-31. doi: 10.1038/72777.
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- Özateş S, Tekin K, Teke MY. Goldmann-Favre Syndrome: Case Series. Turk J Ophthalmol. 2018;48(1):47-51. doi: 10.4274/tjo.76158.
- Bonilha VL, Fishman GA, Rayborn ME, Hollyfield JG. Retinal pathology of a patient with Goldmann-Favre Syndrome. Ophthalmic Genet. 2009;30(4):172-180. doi: 10.3109/13816810903176765.
- Jacobson SG, Roman AJ, Roman MI, et al. Relatively enhanced S cone function in the Goldmann-Favre syndrome. Am J Ophthalmol. 1991;111(4):446–453. doi: 10.1016/s0002-9394(14)72379-7.
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