卷曲蛋白4联合低密度脂蛋白相关蛋白5基因突变的家族性渗出性玻璃体视网膜病变二例_Chinese Journal of Ocular Fundus Diseases

Authors：

李忆安 , 张琦 , 彭婕 , 黄秋婧 ,  赵培泉

200092 上海交通大学医学院附属新华医院眼科;

Corresponding author：

赵培泉, Email: zhaopeiquan@126.com

Keywords：

视网膜疾病/诊断; 基因连锁; 突变; 病例报告

DOI：

10.3760/cma.j.issn.1005-1015.2016.01.019

Video：

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Citation： 李忆安, 张琦, 彭婕, 黄秋婧, 赵培泉. 卷曲蛋白4联合低密度脂蛋白相关蛋白5基因突变的家族性渗出性玻璃体视网膜病变二例. Chinese Journal of Ocular Fundus Diseases, 2016, 32(1): 79-81. doi: 10.3760/cma.j.issn.1005-1015.2016.01.019 Copy

1.	Ober RR, Bird AC, Hamilton AM, et al. Autosomal dominant exudative vitreoretinopathy[J].Br J Ophthalmol, 1980, 64(2):112-120. DOI:10.1136/bjo.64.2.112.
2.	Benson WE.Familial exudative vitreoretinopathy[J].Trans Am Ophthalmol Soc, 1995, 93:473-521.DOI: 10.1016/S0002-9394(14)70568-9.
3.	张琦, 赵培泉.家族性渗出性玻璃体视网膜病变的荧光素眼底血管造影特征及其诊断价值[J].中华眼底病杂志, 2011, 27(3):263-266.DOI:10.3760/cma.j.issn.1005-1015.2011.03.015.Zhang Q, Zhao PQ.Characteristics and diagnostic value of fundus fluorescein angiography for familial exudative vitreoretinopathy[J].Chin J Ocul Fundus Dis, 2011, 27(3):263-266.DOI:10.3760/cma.j.issn.1005-1015.2011.03.015.
4.	Toomes C, Bottomley HM, Scott S, et al. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy[J].Invest Ophthalmol Vis Sci, 2004, 45(7): 2083-2090.
5.	Qin M, Hayashi H, Oshima K, et al.Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes[J].Hum Mutat, 2005, 26(2):104-112.
6.	Nikopoulos K, Venselaar H, Collin RW, et al.Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP[J].Hum Mutat, 2010, 31(6):656-666. DOI: 10.1002/humu.21250.
7.	Müller M, Kusserow C, Orth U, et al.Mutations of the frizzled-4 gene:their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy[J]. Ophthalmologe, 2008, 105(3):262-268.

1. Ober RR, Bird AC, Hamilton AM, et al. Autosomal dominant exudative vitreoretinopathy[J].Br J Ophthalmol, 1980, 64(2):112-120. DOI:10.1136/bjo.64.2.112.
2. Benson WE.Familial exudative vitreoretinopathy[J].Trans Am Ophthalmol Soc, 1995, 93:473-521.DOI: 10.1016/S0002-9394(14)70568-9.
3. 张琦, 赵培泉.家族性渗出性玻璃体视网膜病变的荧光素眼底血管造影特征及其诊断价值[J].中华眼底病杂志, 2011, 27(3):263-266.DOI:10.3760/cma.j.issn.1005-1015.2011.03.015.Zhang Q, Zhao PQ.Characteristics and diagnostic value of fundus fluorescein angiography for familial exudative vitreoretinopathy[J].Chin J Ocul Fundus Dis, 2011, 27(3):263-266.DOI:10.3760/cma.j.issn.1005-1015.2011.03.015.
4. Toomes C, Bottomley HM, Scott S, et al. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy[J].Invest Ophthalmol Vis Sci, 2004, 45(7): 2083-2090.
5. Qin M, Hayashi H, Oshima K, et al.Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes[J].Hum Mutat, 2005, 26(2):104-112.
6. Nikopoulos K, Venselaar H, Collin RW, et al.Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP[J].Hum Mutat, 2010, 31(6):656-666. DOI: 10.1002/humu.21250.
7. Müller M, Kusserow C, Orth U, et al.Mutations of the frizzled-4 gene:their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy[J]. Ophthalmologe, 2008, 105(3):262-268.

Chinese Journal of Ocular Fundus Diseases

卷曲蛋白4联合低密度脂蛋白相关蛋白5基因突变的家族性渗出性玻璃体视网膜病变二例

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