家族性玻璃体淀粉样变性  

Research on familial vitreous amyloidosis

作　　者：余强 黄星 杨主敏 王鲜 YU Qiang;HUANG Xing;YANG Zhu-min;WANG Xian(Guizhou Medical University,Guiyang 550004,China;Department of Ophthalmology, the Affiliated Hospital of Guizhou Medical University, Guiyang 550004, China)

机构地区：[1]贵州医科大学,贵阳550004 [2]贵州医科大学附属医院眼科,550004

出　　处：《国际眼科纵览》2018年第6期401-405,共5页International Review of Ophthalmology

基　　金：贵州省科技计划项目(黔科合SY字[2013]3069号).

摘　　要：家族性玻璃体淀粉样变性是指某些分子基因突变导致相应蛋白变性,形成难溶性的淀粉样物质在玻璃体中沉积,使患眼视功能逐渐衰退的一种罕见的常染色体显性遗传疾病。转甲状腺素蛋白基因突变是引起家族性玻璃体淀粉样变性最常见的基因突变类型。家族性玻璃体淀粉样变性是一种较为少见的玻璃体变性,其确诊有赖于术中玻璃体标本涂片的刚果红染色阳性反应。玻璃体切除术是治疗其最直接和最有效的方法。(国际眼科纵览,2018,42:401-405)Familial vitreous amyloidosis(FVA) is a rare autosomal dominant genetic disease in which certain molecular gene mutations cause the corresponding proteins to denature, forming insoluble amyloids deposit in vitreous,resulting in a gradual decline in visual function. The transthyretin(TTR) mutation is the most common type of gene mutation. FVA is a rare disease of vitreous degeneration, whose diagnosis depends on the Congo red staining positive reaction of the intraoperative vitreous specimen. Vitrectomy is the most direct and effective treatment. (Int Rev Ophthalmol,2018,42:401-405)

关 键 词：家族性玻璃体淀粉样变性 

分 类 号：R776.4[医药卫生—眼科]