Advances in genetic research of FOXL2 in patients with blepharophimosis-ptosis-epicanthus inversus syndrome / 中华实验眼科杂志

ABSTRACT

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 FOXL2 have been identified in the majority of patients with BPES.With the deepening of research, the relationship between FOXL2 genotype and phenotype has received more and more attention, and some researchers have found that the same mutation of the FOXL2 gene may have different phenotypes in different families or even the same family.This review summarizes the relationship between FOXL2 gene mutation and BPES.