“…Blepharophimosis/ptosis/epicanthus inversus syndrome patients present with typical eyelid malformations, including narrow horizontal palpebral fissures, congenital ptosis, telecanthus, and epicanthus inversus. 1 For female patients, according to whether accompanied with infertility by premature ovarian failure (POF), the syndrome can be classified into 2 types: type i with eyelid malformations and POF, whilst type ii only with eyelid manifestations. 2 Mutations in a forkhead box L2 (FOXL2)gene (OMIM #605597) have been shown to cause both types of BPES.…”