Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES): Brief review of genetics, clinical presentation, and management

Abstract

Abstract Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare genetic disorder characterized primarily by four distinct features including telecanthus. BPES is an autosomal dominant disorder caused by mutations in the FOXL2 gene located on chromosome 3q23. Two types of BPES has been described, type 1 BPES with ovarian insufficiency and type 2 with only major ocular features. Various other associations including lid dysplasia, strabismus, refractive error and lacrimal duct anomalies are noted. This review article aims to provide a comprehensive overview of BPES syndrome, including its genetics, clinical manifestations, differential diagnosis, and management options.