电邮这篇文章 
发表评论 Enhanced S-cone syndrome (clinical case)
- 作者: Skvortsova N.1, Zolnikova I.2, Ivanova M.3, Skvortsova Y.4
-
隶属关系:
- Posterior Eye Segment Diagnostics and Surgery Center
- Helmholtz Moscow Research Institute of Eye Diseases of Ministry of Health of Russian Federation
- Oftalmic Genetic Testing and CRO Company
- State Outpatient Clinic No. 68
- 期: 卷 11, 编号 4 (2018)
- 页面: 93-98
- 栏目: Articles
- URL: https://journals.rcsi.science/ov/article/view/11128
- DOI: https://doi.org/10.17816/OV11493-98
- ID: 11128
如何引用文章
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
MD, Ophthalmologist
俄罗斯联邦, MoscowInna Zolnikova
Helmholtz Moscow Research Institute of Eye Diseases of Ministry of Health of Russian Federation
Email: innzolnikova@hotmail.com
Senior Scientific Researcher. SV Kravkov Department of the Clinical Physiology of the Vision
俄罗斯联邦, MoscowMarianna Ivanova
Oftalmic Genetic Testing and CRO Company
Email: info@oftalmic.ru
PhD, Head of the Company
俄罗斯联邦, MoscowYulia Skvortsova
State Outpatient Clinic No. 68
Email: gp.skvortsova.yulia@gmail.com
MD, General Practitioner
俄罗斯联邦, Moscow参考
- Jacobson SG, Marmor MF, Kemp CM, et al. SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci. 1990(5);31:827-838.
- 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.
- Newman H, Blumen SC, Braverman I, et al. Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome. Invest Ophthalmol Vis Sci. 2016;57(13):5361-5371. doi: 10.1167/iovs.16-19505.
- Littink K, Stappers P, Riemslag F, et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes (Basel). 2018;30;9(2). pii: E68. doi: 10.3390/genes9020068.
- Yzer S, Barbazetto I, Allikmets R, et al. Expanded clinical spectrum of enhanced S-cone syndrome. JAMA Ophthalmol. 2013;131(10):1324-30. doi: 10.1001/jamaophthalmol.2013.4349.
- Gelman R, Greenberg JP, Duncker T, et al. Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome. Ophthalmic Surg Lasers Imaging Retina. 2014;45(6):592-5. doi: 10.3928/23258160-20141118-17.
- Schorderet DF, Escher P. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). Hum Mutat. 2009;30(11):1475-1485. doi: 10.1002/humu.21096.
- Nakamura M, Hotta Y, Piao C-H, et al. Enhanced S-cone syndrome with subfoveal neovascularization. Am J Ophthalmol. 2002;133(4):575-577. doi: 10.1016/s0002-9394(01)01428-3.
- Fishman GA, Jampol LM, Goldberg MF. Diagnostic features of the Favre-Goldmann syndrome. Br J Ophthalmol. 1976;60(5):345-53. doi: 10.1136/bjo.60.5.345.
- 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.
补充文件
