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
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
  • [21] Deep learning to distinguish Best vitelliform macular dystrophy (BVMD) from adult-onset vitelliform macular degeneration (AVMD)
    Crincoli, Emanuele
    Zhao, Zhanlin
    Querques, Giuseppe
    Sacconi, Riccardo
    Carla, Matteo Maria
    Giannuzzi, Federico
    Ferrara, Silvia
    Ribarich, Nicolo
    L'Abbate, Gaia
    Rizzo, Stanislao
    Souied, Eric H.
    Miere, Alexandra
    SCIENTIFIC REPORTS, 2022, 12 (01)
  • [22] Photodynamic therapy in adult-onset vitelliform macular dystrophy misdiagnosed as choroidal neovascularization
    Menchini, U
    Giacomelli, G
    Cappelli, S
    Giansanti, F
    Romani, A
    ARCHIVES OF OPHTHALMOLOGY, 2002, 120 (12) : 1761 - 1763
  • [23] ADULT ONSET VITELLIFORM MACULAR LESION AND PATTERN DYSTROPHY OF THE RETINAL-PIGMENT EPITHELIUM
    DELAEY, JJ
    RETINAL PIGMENT EPITHELIUM, 1989, : 87 - 99
  • [24] Atypical macular coloboma in a patient with adult vitelliform dystrophy
    Panagiotidis, Dimitrios
    Karagiannis, Dimitrios
    Theodossiadis, Panagiotis
    Tsoumpris, Ioannis
    Vergados, Ioannis
    CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE, 2010, 45 (05): : 544 - 545
  • [25] MONOZYGOTIC TWIN SISTERS WITH ADULT VITELLIFORM MACULAR DYSTROPHY
    COHEN, SY
    CHRETIEN, P
    COCHARD, C
    COSCAS, GJ
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 1993, 116 (02) : 246 - 247
  • [26] Clinical diagnostic prerequisites for adult vitelliform macular dystrophy
    Renner, AB
    Tillack, H
    Kraus, H
    Kellner, U
    Foerster, MH
    OPHTHALMOLOGE, 2004, 101 (09): : 895 - 900
  • [27] Morphology and functional characteristics in adult vitelliform macular dystrophy
    Renner, AB
    Tillack, H
    Kraus, H
    Kohl, S
    Wissinger, B
    Mohr, N
    Weber, BHF
    Kellner, U
    Foerster, MH
    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2004, 24 (06): : 929 - 939
  • [28] Comparison of Macular Choroidal Thickness in Adult Onset Foveomacular Vitelliform Dystrophy and Age-Related Macular Degeneration
    Coscas, Florence
    Puche, Nathalie
    Coscas, Gabriel
    Srour, Mayer
    Francais, Catherine
    Glacet-Bernard, Agnes
    Querques, Giuseppe
    Souied, Eric H.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (01) : 64 - 69
  • [29] Limited macular translocation in adult-onset foveomacular vitelliform pattern dystrophy: A case report
    Bharadwaj, AK
    Cooper, BA
    Thomas, MA
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 : U104 - U104
  • [30] Choroidal thickness using EDI-OCT in adult-onset vitelliform macular dystrophy
    Palácios R.M.
    Mendes T.S.
    Sano R.Y.
    Wu D.C.
    Aihara T.
    de Almeida Manzano R.P.
    International Journal of Retina and Vitreous, 2 (1)