Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy
Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy
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DOI：
10.1016/j.ajo.2004.11.065
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发表时间：
2005-05-01
影响因子：
4.2
通讯作者：
Tamai, M
中科院分区：
文献类型：
--
作者：
Wada, Y;Itabashi, T;Tamai, M
目的：描述 6 个日本 Bietti 结晶性角膜视网膜营养不良 (BCD) 家族的临床和遗传特征。设计：病例报告和 DNA 分析结果。方法：通过直接测序对 6 名无关的 BCD 患者进行突变筛查。通过视力、狭缝、灯生物显微镜、视网膜电图、荧光素血管造影和动态视野测试来表征临床特征。 结果：在 5 名 BCD 患者中发现了 CYP4V2 基因中相同的 IVS6 至 8deITCATACAGGTCATCGCG/insGC 突变；第六位患者的 CYP4V2 基因出现新的 Trp340X 突变。通过镜面显微镜观察，三名患者在角膜缘处显示出晶体状沉积物。所有患者的眼科检查结果在 50 岁后均出现快速进展。 结论：我们的研究结果表明，IVS6 至 8delTCATACAGGTCATCGCG/insGC 突变是日本 BCD 患者的常见突变。尽管发现了表型变异，但我们所有患者的自然病程几乎相同。 (c) 2005 年，Elsevier Inc. 保留所有权利。
PURPOSE: To describe the clinical and genetic characteristics of six Japanese families with Bietti's crystalline corneoretinal dystrophy (BCD).DESIGN: Case reports and results of DNA analysis.METHODS: Mutation screening was performed on six unrelated patients with BCD by direct sequencing. The clinical features were characterized by the visual acuity, slit,lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing.RESULTS: An identical IVS6 to 8deITCATACAGGTCATCGCG/insGC mutation in the CYP4V2 gene was identified in five of the patients with BCD; the sixth patient had a novel Trp340X mutation in the CYP4V2 gene. Three patients showed crystalline-like deposits at the limbus by specular microscopy. Ophthalmic findings of all patients had a rapid progression after age 50 years.CONCLUSIONS: Our findings suggest that the IVS6 to 8delTCATACAGGTCATCGCG/insGC mutation is a common mutation in Japanese patients with BCD. Although phenotypic variability was found, the natural course was almost the same in all of our patients. (c) 2005 by Elsevier Inc. All rights reserved.