Germline loss-of-function mutations in FOXL2 are associated with BPES (blepharophimosis ptosis epicanthus inversus syndrome) which is characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and epicanthus inversus [6], [7]. Here, FOXL2 is linked to blepharophimosis, ptosis, and epicanthus inversus syndrome.