Correction of the Lower Eyelid Malpositioning in the Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

Abstract

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant complex eyelid malformation. The authors aim to offer an explanation for the lower eyelid malformation and propose a novel surgical approach to correct it. An observational and interventional case series of 10 consecutive, molecularly proven BPES patients who underwent surgical repair of the lower eyelid malformation. During surgery detailed anatomical examination and surgical repositioning of the medial canthal tendon was performed. All the patients were followed up regularly after the surgery and assessed for epiphora. All patients exhibited a marked asymmetry in the attachment of the lower and upper eyelid to the medial canthal tendon, with the lower eyelid being much less attached. This resulted in an abnormal downward concavity with a temporal ectropion and a temporally displaced lower eyelid. Consequently, the inferior punctum was displaced temporally. All patients underwent a novel surgical technique to remediate this, namely, inserting a 4.0 nylon suture between the tarsal plate of the lower eyelid and the medial canthal tendon during telecanthus surgery. This simple additional surgical step corrected not only the position of the lower eyelid but also its abnormal downward concavity, the temporal ectropion and the lateral displacement of the inferior punctum. None of the authors' patients had lasting epiphora. Lateral displacement of the inferior punctum is an important hallmark in the diagnosis of BPES. The authors demonstrate an anatomical explanation for the complex lower eyelid malformation and also propose a novel surgical technique to correct this. During surgical repair of the telecanthus and blepharophimosis, specific attention should be paid to reattachment of the lower eyelid to the medial canthal tendon. This understanding improves clinical diagnosis and surgical treatment of BPES patients.