A rare association of blepharophimosis–ptosis–epicanthus inversus syndrome with unilateral posterior persistent fetal vasculature

Abstract

Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is a rare genetic syndrome characterized by dysmorphism of ocular adnexa. We report a rare presentation of BPES and posterior persistent fetal vasculature (PFV) in a 10-year-old male child. A thorough evaluation showed all the classical features of BPES, calcified cataract in the left eye, and an echogenic mass arising from the optic disc with blood flow characteristic consistent with PFV. The coexistence of BPES and posterior PFV has never been reported in the literature before, and their co-occurrence poses a unique surgical challenge.