New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome

被引:0
作者
Kazuki Kuniyoshi
Takaaki Hayashi
Hiroyuki Sakuramoto
Hiroshi Mishima
Hiroshi Tsuneoka
Kazushige Tsunoda
Takeshi Iwata
Yoshikazu Shimomura
机构
[1] Kinki University Faculty of Medicine,Department of Ophthalmology
[2] The Jikei University School of Medicine,Department of Ophthalmology
[3] National Hospital Organization Tokyo Medical Center,Laboratory of Visual Physiology, National Institute of Sensory Organs
[4] National Hospital Organization Tokyo Medical Center,Division of Molecular and Cellular Biology, National Institute of Sensory Organs
来源
Japanese Journal of Ophthalmology | 2016年 / 60卷
关键词
Enhanced S-cone syndrome; Electroretinogram; Goldmann-Favre syndrome; Optical coherence tomography;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:476 / 485
页数:9
相关论文
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[11]  
Zrenner E(2009)Phenotypic variation in enhanced S-cone syndrome Arch Ophthalmol 127 297-302
[12]  
Sadowski B(2010)Phenotypic features of patients with Doc Ophthalmol 121 231-240
[13]  
Foerster MH(2011) mutations Graefes Arch Clin Exp Ophthalmol 249 201-208
[14]  
Pachydaki SI(2012)The spectrum of retinal diseases caused by Doc Ophthalmol 125 161-168
[15]  
Bhatnagar PA(2014) mutations in Israeli and Palestinian patients JAMA Ophthalmol. 132 1341-1349
[16]  
Barbazetto IA(2016)Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome Ophthalmic Surg Lasers Imaging Retina 47 187-190
[17]  
Klaver CC(2008)A novel mutation (Cys83Tyr) in the second zinc finger of Br J Ophthalmol 92 299-300
[18]  
Freund BK(2002) in enhanced S-cone syndrome Am J Ophthalmol 133 575-577
[19]  
Yannuzzi LA(2007)Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function Am J Ophthalmol 144 157-159
[20]  
Kuniyoshi K(2005)Clinical and molecular characterization of enhanced S-cone syndrome in children Eur J Ophthalmol 15 643-646