TGFBI相关性格子状角膜营养不良表型及基因型研究进展  

Research advances in genotype and phenotype in lattice corneal dystrophy associated with TGFBI gene

作　　者：郑玲[1,2] 谷静芝[1] 

机构地区：[1]哈尔滨医科大学附属第二医院眼科,黑龙江省哈尔150086 [2]湖北省随州市中心医院

出　　处：《眼科新进展》2014年第4期393-396,共4页Recent Advances in Ophthalmology

摘　　要：角膜营养不良是一种遗传性疾病,随着分子遗传学研究技术的发展及各种检查技术的更新,对角膜营养不良的临床表型、相关基因及其突变的研究有了较大进展。同时也出现其分类法的不足。本文参阅大量文献,对转化生长因子β诱导基因导致的格子状角膜营养不良的表型及基因型进行了较全面的综述。Corneal dystrophy is one of the hereditary diseases. With the develop- ment of the molecular genetics and various examination technology updates, corneal dystrophies have great progress in clinical phenotype, gene mutation and its related re- search. At the same time, it reveals the deficiency of the existing taxonomies. This pa- per reviews the research advances in phenotype and genotype of lattice corneal dystro- phy associated with transforming growth factor β gene.

关 键 词：角膜营养不良 基因突变 基因型 表型 

分 类 号：R772.2[医药卫生—眼科]