Identification of a complex allele in IMPG2 as a cause of adult onset vitelliform macular dystrophy

被引：0
|
作者：
Roosing, Susanne [1 ]
Vazquez-Dominguez, Irene [1 ]
Li, Catherina H. Z. [2 ]
Fadaie, Zeinab [1 ]
Haer-Wigman, Lonneke [1 ]
Cremers, Frans P. [1 ]
Hoyng, Carel C. B. [2 ]
Garanto, Alejandro [1 ]
机构：
[1] Radboudumc, Dept Human Genet, Nijmegen, Netherlands
[2] Radboudumc, Dept Ophthalmol, Nijmegen, Gelderland, Netherlands
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2022年 / 63卷 / 07期
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
1600
引用
收藏
页数：3
相关论文
共 50 条
  • [11] Macular translocation in adult-onset vitelliform macular dystrophy: a therapy to be recommended?
    Zrenner, E
    GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2004, 242 (06) : 453 - 455
  • [12] VITELLIFORM MACULAR DYSTROPHY OF LATE ONSET
    WIZNIA, RA
    PERINA, B
    NOBLE, KG
    BRITISH JOURNAL OF OPHTHALMOLOGY, 1981, 65 (12) : 866 - 868
  • [13] Identification of the zebrafish homologues of IMPG2, a retinal proteoglycan
    Castellini, M. E.
    Spagnolli, G.
    Poggi, L.
    Biasini, E.
    Casarosa, S.
    Messina, A.
    CELL AND TISSUE RESEARCH, 2023, 394 (01) : 93 - 105
  • [14] Bilateral Macular Holes in Adult Vitelliform Macular Dystrophy
    Regan, Kathleen A.
    Gottlieb, Justin L.
    JOURNAL OF VITREORETINAL DISEASES, 2020, 4 (04) : 340 - 343
  • [15] A New TGFBI-Corneal Dystrophy ? Combination with Adult-Onset-Vitelliform Macular Dystrophy
    Van Dooren, Bart
    Sloot, Frea
    Klaver, Caroline C. W.
    Thiadens, Alberta A. H. J.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)
  • [16] 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
    Franziska Krämer
    Karen White
    Daniel Pauleikhoff
    Andrea Gehrig
    Lori Passmore
    Andrea Rivera
    Günther Rudolph
    Ulrich Kellner
    Monika Andrassi
    Birgit Lorenz
    Klaus Rohrschneider
    Anita Blankenagel
    Bernhard Jurklies
    Harald Schilling
    Florian Schütt
    Frank G Holz
    Bernhard HF Weber
    European Journal of Human Genetics, 2000, 8 : 286 - 292
  • [17] Identification of the zebrafish homologues of IMPG2, a retinal proteoglycan
    M. E. Castellini
    G. Spagnolli
    L. Poggi
    E. Biasini
    S. Casarosa
    A. Messina
    Cell and Tissue Research, 2023, 394 : 93 - 105
  • [18] 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
  • [19] VITELLIFORM MACULAR DYSTROPHY - A CAUSE OF MACULAR HOLES WITH RETINAL DETACHMENTS
    SOLIMAN, MM
    EYE, 1994, 8 : 484 - 487
  • [20] Deep learning to distinguish Best vitelliform macular dystrophy (BVMD) from adult-onset vitelliform macular degeneration (AVMD)
    Emanuele Crincoli
    Zhanlin Zhao
    Giuseppe Querques
    Riccardo Sacconi
    Matteo Maria Carlà
    Federico Giannuzzi
    Silvia Ferrara
    Nicolò Ribarich
    Gaia L’Abbate
    Stanislao Rizzo
    Eric H. Souied
    Alexandra Miere
    Scientific Reports, 12
12345