Abstract
INTRODUCTION: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disorder characterized by complex orbito-palpebral anomalies. We report a rare case of BPES associated with bilateral congenital cataract. OBSERVATION: This study reports the case of a 6-month-old infant with BPES in whom a bilateral congenital cataract was diagnosed, after the parents noticed leukocoria and signs of poor vision in their child. No other ophthalmologic manifestations commonly associated with this syndrome were found. The infant underwent cataract surgery first, with lens phacoaspiration and posterior capsulotomy coupled with anterior vitrectomy and placement of a 3-piece foldable hydrophobic posterior chamber lens in the capsular bag. The surgery was a real challenge due to the orbito-palpebral anomalies that limited a small surgical space, and the placement of the IOL was a matter of discussion. DISCUSSION: Publications on the association of congenital cataract with BPES are very rare. The link between these two anomalies is difficult to establish since different genes on different chromosomes code for the two diseases. A lateral canthotomy can be considered to overcome the surgical difficulties due to the reduced working space. The surgical management of pediatric cataract varies in the literature. CONCLUSION: This case highlights the difficulty of cataract surgery in children, even more so when associated with BPES, and the challenge of improving vision in these children given the high risk of amblyopia.