Upon complete sequencing analysis of FOXL2, three heterozygous mutations were identified in three probands of the three families with BPES, including c.672_701dup30 (p.Ala224_Ala234dup10), c.663_692dup30 (p.Ala221_Ala231dup10), and c.475dupC (p.His159fs; Figure 3). Here, FOXL2 is linked to blepharophimosis, ptosis, and epicanthus inversus syndrome.