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Research Article

Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4mutations (H69Y and C181R)

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Pages 81-90 | Published online: 08 Jul 2009

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Hiroyuki Kondo, Eiichi Uchio, Shunji Kusaka & Koichiro Higasa. (2018) Risk allele of the FZD4 gene for familial exudative vitreoretinopathy. Ophthalmic Genetics 39:3, pages 405-406.
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Barkur S Shastry. (2012) Genetics of familial exudative vitreoretinopathy and its implications for management. Expert Review of Ophthalmology 7:4, pages 377-386.
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Johane M. Robitaille, Karin Wallace, Binyou Zheng, M. Jill Beis, Mark Samuels, Ann Hoskin-Mott & Duane L. Guernsey. (2009) Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused by FZD4 Mutations in two Distinct Pedigrees. Ophthalmic Genetics 30:1, pages 23-30.
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Przemko Kwinta & Jacek J Pietrzyk. (2007) Retinopathy of prematurity: is genetic predisposition an important risk factor?. Expert Review of Ophthalmology 2:2, pages 275-283.
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Hiroyuki Kondo, Minghui Qin, Tomoko Tahira, Eiichi Uchio & Kenshi Hayashi. (2007) Severe Form of Familial Exudative Vitreoretinopathy Caused by Homozygous R417Q Mutation in Frizzled-4 Gene. Ophthalmic Genetics 28:4, pages 220-223.
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Articles from other publishers (25)

Taku Wakabayashi, Samir N. Patel, Matthew R. Starr & Yoshihiro Yonekawa. (2023) 18p Deletion Syndrome With Concurrent Frizzled-4 Mutation: Surgical Management of Bilateral Stage 5 Traction Retinal Detachment. Ophthalmic Surgery, Lasers and Imaging Retina 54:5, pages 284-290.
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Yong Zheng Wai, Yong Yuin Chong, Lik Thai Lim, Norhafizah Hamzah & Jamalia Rahmat. (2022) Familial exudative vitreoretinopathy in a 4 generations family of South-East Asian Descendent with FZD4 mutation (c.1501_1502del). International Journal of Retina and Vitreous 8:1.
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Xiaona Wang, Jun Chen, Hui Xiong & Xuhui Yu. (2022) Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals. PLOS ONE 17:7, pages e0271326.
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Jinglin Lu, Li Huang, Limei Sun, Songshan Li, Zhaotian Zhang, Zhaoxin Jiang, Jiaqing Li & Xiaoyan Ding. (2022) FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations . Investigative Opthalmology & Visual Science 63:4, pages 7.
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Karen Jeng-Miller, Yoshihiro Yonekawa & Shizuo Mukai. 2022. Albert and Jakobiec's Principles and Practice of Ophthalmology. Albert and Jakobiec's Principles and Practice of Ophthalmology 3145 3165 .
Tianchang Tao, Ningda Xu, Jiarui Li, Hongyan Li, Jinfeng Qu, Hong Yin, Jianhong Liang, Mingwei Zhao, Xiaoxin Li & Lvzhen Huang. (2021) Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy. Investigative Opthalmology & Visual Science 62:15, pages 4.
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Karen Jeng-Miller, Yoshihiro Yonekawa & Shizuo Mukai. 2020. Albert and Jakobiec's Principles and Practice of Ophthalmology. Albert and Jakobiec's Principles and Practice of Ophthalmology 1 22 .
Reham M. Milhem & Bassam R. Ali. (2019) Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape. Molecular Medicine 26:1.
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Huijuan Xu, Shanshan Zhang, Lulin Huang, Peiquan Zhao, Xiang Zhang, Zhenglin Yang & Lin Zhang. (2020) Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families . Clinical & Experimental Ophthalmology 48:3, pages 356-365.
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Zhirong Wang, Chonglin Chen, Limei Sun, Aiyuan Zhang, Chengxi Liu, Li Huang & Xiaoyan Ding. (2019) Symmetry of folds in FEVR: A genotype-phenotype correlation study. Experimental Eye Research 186, pages 107720.
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Jingjing Liu, Jing Zhu, Jiyun Yang, Xiang Zhang, Qi Zhang & Peiquan Zhao. (2019) Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease. Molecular Genetics & Genomic Medicine 7:1, pages e00503.
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Jia-Kai Li, Yian Li, Xiang Zhang, Chun-Li Chen, Yu-Qing Rao, Ping Fei, Qi Zhang, Peiquan Zhao & Jing Li. (2018) Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy. Investigative Opthalmology & Visual Science 59:13, pages 5368.
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Jana Valnohova, Maria Kowalski-Jahn, Roger K. Sunahara & Gunnar Schulte. (2018) Functional dissection of the N-terminal extracellular domains of Frizzled 6 reveals their roles for receptor localization and Dishevelled recruitment. Journal of Biological Chemistry 293:46, pages 17875-17887.
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Giancarlo Iarossi, Matteo Bertelli, Paolo Enrico Maltese, Elena Gusson, Giorgio Marchini, Alice Bruson, Sabrina Benedetti, Sabrina Volpetti, Gino Catena, Luca Buzzonetti & Lucia Ziccardi. (2017) Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy. Journal of Ophthalmology 2017, pages 1-10.
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Ganeswara Rao Musada, Hameed Syed, Subhadra Jalali, Subhabrata Chakrabarti & Inderjeet Kaur. (2016) Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients. BMC Ophthalmology 16:1.
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Ping Fei, Xiong Zhu, Zhilin Jiang, Shi Ma, Jing Li, Qi Zhang, Yu Zhou, Yu Xu, Zhengfu Tai, Lin Zhang, Lulin Huang, Zhenglin Yang, Peiquan Zhao & Xianjun Zhu. (2015) Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy. Scientific Reports 5:1.
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Hiroyuki Kondo. (2015) Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments. Taiwan Journal of Ophthalmology 5:2, pages 56-62.
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D F Gilmour. (2014) Familial exudative vitreoretinopathy and related retinopathies. Eye 29:1, pages 1-14.
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Konstantinos Nikopoulos, Hanka Venselaar, Rob W.J. Collin, Rosa Riveiro-Alvarez, F. Nienke Boonstra, Johanna M.M. Hooymans, Arijit Mukhopadhyay, Deborah Shears, Marleen van Bers, Ilse J. de Wijs, Anthonie J. van Essen, Rolf H. Sijmons, Mauk A.D. Tilanus, C. Erik van Nouhuys, Carmen Ayuso, Lies H. Hoefsloot & Frans P.M. Cremers. (2010) Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Human Mutation 31:6, pages 656-666.
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Barkur S. Shastry. 2009. Single Nucleotide Polymorphisms. Single Nucleotide Polymorphisms 3 22 .
K. Errais, I. Ammous, R. Kamoun, I. Mili Boussen, R. Anene, R. Zhioua & A. Meddeb Ouertani. (2008) Association d’une vitréo-rétinopathie familiale exsudative à une persistance de l’artère hyaloïdienne. Journal Français d'Ophtalmologie 31:1, pages 69.e1-69.e5.
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Shizuo Mukai & Christopher M. Andreoli. 2008. Albert &amp Jakobiec's Principles &amp Practice of Ophthalmology. Albert &amp Jakobiec's Principles &amp Practice of Ophthalmology 1865 1870 .
Ryan R. Brinkman, Marie-Pierre Dubé, Guy A. Rouleau, Andrew C. Orr & Mark E. Samuels. (2006) Human monogenic disorders — a source of novel drug targets. Nature Reviews Genetics 7:4, pages 249-260.
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Michael Povelones, Rob Howes, Matt Fish & Roel Nusse. (2005) Genetic Evidence That Drosophila frizzled Controls Planar Cell Polarity and Armadillo Signaling by a Common Mechanism . Genetics 171:4, pages 1643-1654.
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Minghui Qin, Hideyuki Hayashi, Kenji Oshima, Tomoko Tahira, Kenshi Hayashi & Hiroyuki Kondo. (2005) Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes . Human Mutation 26:2, pages 104-112.
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