对日本比埃蒂结晶性角膜视网膜营养不良患者的CYP4V2基因突变进行筛查。
Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy.
作者信息
Wada Yuko, Itabashi Toshitaka, Sato Hajime, Kawamura Miyuki, Tada Asako, Tamai Makoto
机构信息
Department of Ophthalmology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-77, Japan.
出版信息
Am J Ophthalmol. 2005 May;139(5):894-9. doi: 10.1016/j.ajo.2004.11.065.
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 8delTCATACAGGTCATCGCG/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.
目的
描述六个患有比埃蒂结晶性角膜视网膜营养不良（BCD）的日本家族的临床和遗传特征。
设计
病例报告及DNA分析结果。
方法
通过直接测序对六名无关的BCD患者进行突变筛查。临床特征通过视力、裂隙灯显微镜检查、视网膜电图、荧光素血管造影和动态视野测试来表征。
结果
在五名BCD患者中鉴定出CYP4V2基因中相同的IVS6至8delTCATACAGGTCATCGCG/insGC突变；第六名患者在CYP4V2基因中有一个新的Trp340X突变。三名患者通过镜面显微镜检查在角膜缘显示出结晶样沉积物。所有患者的眼科检查结果在50岁以后进展迅速。
结论
我们的研究结果表明，IVS6至8delTCATACAGGTCATCGCG/insGC突变是日本BCD患者中的常见突变。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。
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