FOXL2 is a nuclear protein specially expressed in eyelids and in fetal and adult ovarian follicular cells. Defects in FOXL2 are cause of blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). It is an autosomal dominant disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold. It is also associated with female infertility.