Advances in genetic research of FOXL2 in patients with blepharophimosis-ptosis-epicanthus inversus syndrome

Authors:  Yang Lin,  Ke Min,  Chen Xiaomin

DOI: 10.3760/cma.j.cn115989-20200509-00323
Published 2020-08-10
Cite as Chin J Exp Ophthalmol, 2020,38(08): 726-728.

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.

Key words:

Blepharophimosis-ptosis-epicanthus inversus syndrome; Genetics; FOXL2 gene

Contributor Information

Yang Lin
Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China
Ke Min
Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China
Chen Xiaomin
Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China
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Updated: August 19, 2020 — 8:22 am