Blepharophimosis ptosis epicanthus inversus syndrome (BPES): A rare cause of primary ovarian insufficiency

Abstract

Introduction: Most common cause of primary ovarian insufficiency is idiopathic (80–90%). Other causes are chromosomal, genetic, autoimmune, metabolic, infectious, and iatrogenic. blepharophimosis ptosis epicanthusinversus syndrome (bPEs) is a rare genetic cause of primary ovarian insufficiency. It mainly affects development of eyelids and has autosomal dominant inheritance. the bPEs is of two type, type I and II. both of which include the eyelid malformations and other facial features. type I is associated with primary ovarian insufficiency in women. We studied three cases who presented with bPEs in Gynecology OPD of AIIMs rishikesh over a period of six months.