Oculoplastics/Orbit, Pediatric Ophth/Strabismus
A 3-year-old girl was presented at the ophthalmology clinic accompanied by her mother who had concerns about her abnormally small eye. Examination revealed marked amblyopia, with her visual acuity 6/36 in both eyes. Both the anterior and posterior segments showed normal findings. A diagnosis of blepharophimosis, ptosis, and Epicanthus Inversus Syndrome (BPES) was established. BPES is a rare congenital disorder that manifests through eyelid malformations with an autosomal dominant inheritance pattern. It arises due to mutations in the Forkhead Box L2 (FOXL2) gene, which encodes for a transcription factor that is expressed in the developmental stages of mesenchyme in eyelids and ovaries. BPES is predominantly characterized by four features present at birth: blepharophimosis (shortening of the horizontal orbital fissure, white asterisk), ptosis (drooping of the eyelids, white arrow), epicanthus inversus (upward fold of skin from the lower eyelid, black arrow), and telecanthus (abnormally increased distance between the medial canthi, black asterisk). The patient's mother was advised of a two-stage surgical approach. The initial stage involved employing Mustarde's double Z-plasty to correct the epicanthus inversus and telecanthus. The subsequent stage was performed three months later to correct ptosis.