先天性睑裂狭小综合征(BPES)是一种罕见的先天性眼睑及颜面部发育异常，典型的眼睑发育异常主要表现为睑裂狭小、逆向内眦赘皮、上睑下垂和内眦间距过宽。BPES分为两型，Ⅰ型表现为眼睑畸形及女性患者不孕，男性患者生育功能正常；Ⅱ型BPES患者临床表现为眼睑发育不良同时男女患者均可生育。通过对BPES患者行遗传学分析发现n FOXL2基因是首位致病基因，并且n FOXL2基因突变与2种表型BPES发病均有关。随着研究的深入，n FOXL2基因型与表型的关系越来越受到关注，而且有研究发现n FOXL2基因的同一突变在不同家系，甚至同一家系可能出现不同表型。就n FOXL2基因突变与BPES之间的关系进行综述。n “,”Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease, which has been divided into two types according to whether it involves premature ovarian failure.BPES is characterized by typical eyelid malformations, including a narrowed horizontal palpehral aperture, ptosis, epicanthus inversus and telecanthus.Mutations in n FOXL2 have been identified in the majority of patients with BPES.With the deepening of research, the relationship between n FOXL2 genotype and phenotype has received more and more attention, and some researchers have found that the same mutation of the n FOXL2 gene may have different phenotypes in different families or even the same family.This review summarizes the relationship between n FOXL2 gene mutation and BPES.n