CAJ | 학술논문

无虹膜症(anirida)是一种罕见的、可遗传的先天性眼部疾病之一,呈常染色体显性遗传,全球的发病率约为1/96 000～1/64 000.该症除无虹膜的表现外,常伴有白内障、青光眼及角膜病等眼部病变.PAX6基因突变是该病发生的主要原因.此外,FOXC1和PITX2等基因突变也可导致该病.文章在简述了无虹膜症临床特点的基础上,着重综述该病的突变热点及其分子机制.
무홍막증(anirida)시일충한견적、가유전적선천성안부질병지일,정상염색체현성유전,전구적발병솔약위1/96 000～1/64 000.해증제무홍막적표현외,상반유백내장、청광안급각막병등안부병변.PAX6기인돌변시해병발생적주요원인.차외,FOXC1화PITX2등기인돌변야가도치해병.문장재간술료무홍막증림상특점적기출상,착중종술해병적돌변열점급기분자궤제.
Anirida is one of rare, autosomal dominant, inherited congenital ocular diseases with a global prevalence from one in 64,000 to one in 96,000.It is commonly characterized with some degrees of eye diseases, such as cataract, glaucoma, keratopathy and so on.Most cases are associated with mutations of the PAX6 gene.In addition, mutations of other genes, like FOXC1 and PITX2, also result in this disease.This article reviews the clinical manifestations, major mutation hotspots and the molecular mechanisms underlying aniridia.