无汗/少汗性外胚层发育不良及其眼部表现  

Anhidrotic/hypohidrotic ectodermal dysplasia and its ocular manifestations

作　　者：张慧[1] 刘祖国[1] 

机构地区：[1]中山大学附属中山眼科中心,广东省广州市510060

出　　处：《眼科新进展》2006年第5期386-388,共3页Recent Advances in Ophthalmology

基　　金：国家自然科学基金资助(编号:30371514)

摘　　要：无汗／少汗性外胚层发育不良（anhydrotic／hypohidrotic ectodermal dysplasia，EDA）是一种以汗腺、毛发及牙齿等外胚层起源的组织发育缺陷为主要特征的遗传性疾病．其致病基因定位于Xq12．2-13．1。EDA的全身临床表型已得到充分研究，但对其眼部损害的描述甚少。本文就EDA的表型、遗传学基础及眼部特殊表现作一综述。Anhidrotic/hypohidrotic ectodermal dysplasta （EDA） is a kind of genetic disorder characterized by developmental defects of hair, teeth and eccrine glands in humans and mice. The mutations in the ectodysplasin （ED1） gene were responsible for its pathopoiesis. The general phenotype of EDA has been studied a lot while the description of the related ocular manifestations was seldom reported. Therefore, the phenotype, genetics and ocular manifestations of EDA were summarized in this paper.

关 键 词：无汗/少汗性外胚层发育不良 ED1基因 眼表 

分 类 号：R771.3[医药卫生—眼科]