Oculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature

Abstract

Kabuki syndrome is a rare genetic disease with multisystemic effects including ocular manifestations. The authors report a patient with known Kabuki syndrome who presented with bilateral euryblepharon, bilateral ptosis, OD hypotropia, and blue sclera. A bilateral lateral tarsal strip procedure was performed followed by a left frontalis sling with a silicone implant and a right external levator advancement with success. Two hours after the case conclusion, the patient developed a right upper eyelid hematoma. The hematoma was emergently expressed, and the wound was cauterized and sutured. On careful review of prior labs, the patient may have had chronic immune thrombocytopenia, a known comorbidity of Kabuki syndrome. This report not only describes a novel pathogenic variant in KMT2D causing Kabuki syndrome, but also details the surgical approaches to congenital ptosis, underscores the bleeding risk in patients with Kabuki syndrome, and reviews the approach to perioperative hematoma management.