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
共 20 条
  • [1] New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome
    Kuniyoshi, Kazuki
    Hayashi, Takaaki
    Sakuramoto, Hiroyuki
    Mishima, Hiroshi
    Tsuneoka, Hiroshi
    Tsunoda, Kazushige
    Iwata, Takeshi
    Shimomura, Yoshikazu
    JAPANESE JOURNAL OF OPHTHALMOLOGY, 2016, 60 (06) : 476 - 485
  • [2] Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations
    Garafalo, Alexandra V.
    Calzetti, Giacomo
    Cideciyan, Artur V.
    Roman, Alejandro J.
    Saxena, Supna
    Sumaroka, Alexander
    Choi, Windy
    Wright, Alan F.
    Jacobson, Samuel G.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (08) : 3209 - 3219
  • [3] A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome
    Rocha-Sousa, Amandio
    Hayashi, Takaaki
    Gomes, Nuno Lourenco
    Penas, Susana
    Brandao, Elisete
    Rocha, Paulo
    Urashima, Mitsuyoshi
    Yamada, Hisashi
    Tsuneoka, Hiroshi
    Falcao-Reis, Fernando
    GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2011, 249 (02) : 201 - 208
  • [4] Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations
    Collison, Frederick T.
    Park, Jason C.
    Fishman, Gerald A.
    Stone, Edwin M.
    McAnany, J. Jason
    DOCUMENTA OPHTHALMOLOGICA, 2016, 132 (03) : 157 - 166
  • [5] Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations
    Frederick T. Collison
    Jason C. Park
    Gerald A. Fishman
    Edwin M. Stone
    J. Jason McAnany
    Documenta Ophthalmologica, 2016, 132 : 157 - 166
  • [6] Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant
    Cehajic-Kapetanovic, Jasmina
    Cottriall, Charles L.
    Jolly, Jasleen K.
    Shanks, Morag
    Clouston, Penny
    Issa, Peter Charbel
    MacLaren, Robert E.
    OPHTHALMIC GENETICS, 2019, 40 (01) : 29 - 33
  • [7] S- and M-cone electroretinograms in rd7 mice with NR2E3 gene mutation
    Ueno, S
    Kondo, M
    Takahashi, A
    Miyake, Y
    NEURAL BASIS OF EARLY VISION, 2003, 11 : 94 - 95
  • [8] Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models
    Aisa-Marin, Izarbe
    Jose Lopez-Iniesta, M.
    Milla, Santiago
    Lillo, Jaume
    Navarro, Gemma
    de la Villa, Pedro
    Marfany, Gemma
    NEUROBIOLOGY OF DISEASE, 2020, 146
  • [9] Topical dorzolamide treatment of macular cysts in the enhanced S-cone syndrome patient
    Kiszkielis, Marta
    Lubinski, Wojciech
    Penkala, Krzysztof
    DOCUMENTA OPHTHALMOLOGICA, 2013, 126 (03) : 241 - 246
  • [10] Developmental or degenerative-NR2E3 gene mutations in two patients with enhanced S cone syndrome
    Udar, Nitin
    Small, Kent
    Chalukya, Meenal
    Silva-Garcia, Rosamaria
    Marmor, Michael
    MOLECULAR VISION, 2011, 17 (59): : 519 - 525
12