Ocular Neurofibromatosis

Cureus. 2021 Sep 6;13(9):e17765. doi: 10.7759/cureus.17765. eCollection 2021 Sep.

Abstract

A 14-year-old boy presented with a right orbital lid mass, which had slowly grown over the last 4.5 years, as well as some impaired visual acuity in the affected (right) eye. We assessed the patient by taking a detailed history and physical examination. A Snellen chart was used to assess visual acuity, which revealed decreased acuity in the right eye as compared to the left eye. Pupillary reactions, including relative afferent pupillary reflexes, were unremarkable; anterior and posterior chamber assessment was normal including that of the optic disc and macula. Additionally, the intraocular pressure was within acceptable limits. The mass was excised surgically as it had caused significant disfigurement and posed risk to the patient in terms of the possibility for the lesion to increase in severity. It was an approach utilizing a blepharoplasty incision, horizontal wedge resection, and a frontalis sling done under general anesthesia. A biopsy of the mass identified it as a plexiform lesion of the orbit such as that attributed to neurofibromatosis type 1.

Keywords: eye ptosis; eye surgery; eyelid mass; eyelid neurofibroma; neurofibromatosis type 1 (nf-1); orbital; plexiform neurofibromas; upper blepharoplasty.

Publication types

  • Case Reports