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
  • [1] Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy
    Vazquez-Dominguez, Irene
    Li, Catherina H. Z.
    Fadaie, Zeinab
    Haer-Wigman, Lonneke
    Cremers, Frans P. M.
    Garanto, Alejandro
    Hoyng, Carel B.
    Roosing, Susanne
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (05)
  • [2] Novel IMPG2 variant causing adult macular vitelliform dystrophy: A case report
    Ribarich, Nicolo
    Rivolta, Maria Chiara
    Sacconi, Riccardo
    Querques, Giuseppe
    EUROPEAN JOURNAL OF OPHTHALMOLOGY, 2024, 34 (02) : NP1 - NP4
  • [3] Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes
    Meunier, Isabelle
    Manes, Gael
    Bocquet, Beatrice
    Marquette, Virginie
    Baudoin, Corinne
    Puech, Bernard
    Defoort-Dhellemmes, Sabine
    Audo, Isabelle
    Verdet, Robert
    Arndt, Carl
    Zanlonghi, Xavier
    Le Meur, Guylene
    Dhaenens, Claire-Marie
    Hamel, Christian P.
    OPHTHALMOLOGY, 2014, 121 (12) : 2406 - 2414
  • [4] Genes encoding the extracellular matrix proteins SPACR (IMPG1) and SPACRCAN (IMPG2) cause macular vitelliform dystrophies
    Hamel, Christian P.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
  • [5] Prevalence of IMPG1 and IMPG2 Mutations Leading to Retinitis Pigmentosa or Vitelliform Macular Dystrophy in a Cohort of Patients with Inherited Retinal Dystrophies
    Yuan, Ming
    Chatterjee, Souradip
    Leys, Monique
    Odom, J. Vernon
    Salido, Ezequiel M.
    GENES, 2025, 16 (01)
  • [6] Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions
    Brandl, Caroline
    Schulz, Heidi L.
    Issa, Peter Charbel
    Birtel, Johannes
    Bergholz, Richard
    Lange, Clemens
    Dahlke, Claudia
    Zobor, Ditta
    Weber, Bernhard H. F.
    Stoehr, Heidi
    GENES, 2017, 8 (07):
  • [7] Mutations in IMPG1 Cause Vitelliform Macular Dystrophies
    Manes, Gael
    Meunier, Isabelle
    Avila-Fernandez, Almudena
    Banfi, Sandro
    Le Meur, Guylene
    Zanlonghi, Xavier
    Corton, Marta
    Simonelli, Francesca
    Brabet, Philippe
    Labesse, Gilles
    Audo, Isabelle
    Mohand-Said, Saddek
    Zeitz, Christina
    Sahel, Jose-Alain
    Weber, Michel
    Dollfus, Helene
    Dhaenens, Claire-Marie
    Allorge, Delphine
    De Baere, Elfride
    Koenekoop, Robert K.
    Kohl, Susanne
    Cremers, Frans P. M.
    Hollyfield, Joe G.
    Senechal, Audrey
    Hebrard, Maxime
    Bocquet, Beatrice
    Ayuso Garcia, Carmen
    Hamel, Christian P.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (03) : 571 - 578
  • [8] Morphological and functional analyses of adult onset vitelliform macular dystrophy
    Saito, W
    Yamamoto, S
    Hayashi, M
    Ogata, K
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2003, 87 (06) : 758 - 762
  • [9] ADULT VITELLIFORM MACULAR DYSTROPHY
    BRECHER, R
    BIRD, AC
    EYE, 1990, 4 : 210 - 215
  • [10] Macular translocation in adult-onset vitelliform macular dystrophy: a therapy to be recommended?
    Eberhart Zrenner
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2004, 242 : 453 - 455