Screening for BEST1 gene mutations in Chinese patients with vitelliform macular dystrophy

被引：0
|
作者：
Tian, Rong [1 ,2 ]
Yang, Guoxing [3 ]
Wang, Jing [1 ,2 ]
Chen, Youxin [1 ,2 ]
机构：
[1] Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing, Peoples R China
[2] Chinese Acad Med Sci, Beijing, Peoples R China
[3] Xingtai Eye Hosp, Dept Ophthalmol, Xingtai, Peoples R China
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2014年 / 55卷 / 13期
关键词：
537 gene screening; 604; mutations; 494; degenerations/dystrophies;
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
3259
引用
收藏
页数：2
相关论文
共 50 条
  • [41] Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
    Krämer, F
    White, K
    Pauleikhoff, D
    Gehrig, A
    Passmore, L
    Rivera, A
    Rudolph, G
    Kellner, U
    Andrassi, M
    Lorenz, B
    Rohrschneider, K
    Blankenagel, A
    Jurklies, B
    Schilling, H
    Schütt, F
    Holz, FG
    Weber, BHF
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (04) : 286 - 292
  • [42] DARK-ADAPTATION IN PATIENTS WITH BEST VITELLIFORM MACULAR DYSTROPHY
    BACA, W
    FISHMAN, GA
    ALEXANDER, KR
    GLENN, AM
    BRITISH JOURNAL OF OPHTHALMOLOGY, 1994, 78 (06) : 430 - 432
  • [43] VISUAL-ACUITY IN PATIENTS WITH BEST VITELLIFORM MACULAR DYSTROPHY
    FISHMAN, GA
    BACA, W
    ALEXANDER, KR
    DERLACKI, DJ
    GLENN, AM
    VIANA, M
    OPHTHALMOLOGY, 1993, 100 (11) : 1665 - 1670
  • [44] A NOVEL p.Asp304Gly MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY
    Peiretti, Enrico
    Caminiti, Giulia
    Forma, Gina
    Carboni, Giovannella
    Dhaenens, Claire-Marie
    Querques, Lea
    Souied, Eric
    Querques, Giuseppe
    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2016, 36 (09): : 1733 - 1740
  • [45] Best vitelliform macular dystrophy with and without VMD2 gene mutations - A morphological and functional evaluation
    Renner, AB
    Kellner, U
    Tillack, H
    Kraemer, F
    Weber, BHF
    Foerster, MH
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2005, 46
  • [46] A model of best vitelliform macular dystrophy in rats
    Marmorstein, AD
    Stanton, JB
    Yocom, J
    Bakall, B
    Schiavone, MT
    Wadelius, C
    Marmorstein, LY
    Peachey, NS
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 (10) : 3733 - 3739
  • [47] Multimodal Imaging in Best Vitelliform Macular Dystrophy
    Lima de Carvalho Jr, Jose Ronaldo
    Paavo, Maarjaliis
    Chen, Lijuan
    Chiang, John
    Tsang, Stephen H.
    Sparrow, Janet R.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (06) : 2012 - 2022
  • [48] Clinicopathologic findings in Best vitelliform macular dystrophy
    Qing Zhang
    Kent W. Small
    Hans E. Grossniklaus
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2011, 249 : 745 - 751
  • [49] Fundus Autofluorescence in Best Vitelliform Macular Dystrophy
    Parodi, Maurizio Battaglia
    Iacono, Pierluigi
    Falcomata, Bruno
    Sacconi, Riccardo
    Selvi, Federico
    Scaramuzzi, Matteo
    Bandello, Francesco
    OPHTHALMOLOGICA, 2014, 232 : 37 - 37
  • [50] CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY
    Parodi, Maurizio Battaglia
    Sacconi, Riccardo
    Iacono, Pierluigi
    Del Turco, Claudia
    Bandello, Francesco
    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2016, 36 (04): : 764 - 769
12345