Blepharophimosis Syndrome

    

Two patients, both children, presented with FOXL2 mutation and similar constellation of findings, namely blepharophimosis, ptosis, telecanthus, and epicanthus inversus. Exam demonstrates ptosis with amblyopia risk, chin up positioning, and frontalis activation. The first patient was managed successfully with frontalis sling with Supramid suture. The second patient had C-U medial epicanthoplasty to address the shortening of the horizontal palpebral fissures. A staged surgical approach was chosen in this situation with planned careful follow up to avoid amblyopia, lagophthalmos, and dry eye.

Presentation Date: 10/03/2024

Issue Date: 11/22/2024