Recently, several FOXL2 variants were reported to be associated with a severe BPES phenotype, such as p.Arg103Cys (c.307C > T), p.His104Pro (c.311A > C), p.Ser107Asn (c.320G > A), and p.Phe112Tyr (c.335T > A) (124). This evidence concerns the gene FOXL2 and blepharophimosis, ptosis, and epicanthus inversus syndrome.