The potential BPES locus was pinpointed in the 3q23 chromosomal region (Fukushima et al., 1991), and variants in the forkhead box L2 gene (FOXL2, OMIM# 605597) related to both types of BPES were subsequently identified (Crisponi et al., 2001). This evidence concerns the gene FOXL2 and blepharophimosis, ptosis, and epicanthus inversus syndrome.