Clinical Features and Surgical Management of Orbitotemporal Neurofibromatosis: A Retrospective Interventional Case Series

Abstract

Purpose: To evaluate the clinical features and surgical preferences of patients with neurofibromatosis.

Methods: Histologically confirmed neurofibromatosis cases that underwent surgery during a 15-year period were retrospectively evaluated. The patients’ demographics, severity of periorbital involvement, aim of surgery, surgery types, postoperative outcome, and complications were recorded.

Results Nineteen patients with a mean age of 24.7 ± 21.2 years were included in the study. Nine were younger and 10 were older than 16 years. Seventeen patients had unilateral and two had bilateral involvement. Patients were followed for a mean of 5.8 ± 5.7 years. A total of 35 surgeries were performed. In 22 times the surgery was performed to improve vision, and in others to get a cosmetically acceptable appearance. Although there was an improvement in visual acuity, the difference was not significant (P = 0.085). Debulking of the tumor was performed in 100%, ptosis surgery in 90%, and lateral canthal fixation in 50% of surgeries. All patients showed improvement: at the last examination, six eyes had no ptosis, in 13 eyes ptosis not covering the pupil in primary gaze was observed on the involved side, and in only one eye the pupil was half covered.

Conclusion In neurofibromatosis the treatment should be customized to each patient. As confirmed in our study, an open visual axis is the main goal in surgery, followed by cosmetic appearance. The authors believe that, with possibly multiple surgeries an acceptable result can be achieved.

KEYWORDS::

• Neurofibromatosis type 1
• NF1
• Peripheral neurofibromatosis
• Von Recklinghausen disease

Declaration of interest: Rana Altan-Yaycioglu, MD, FEBO was an ICO/IFOS fellow, sponsored by the Getrud Kusen Foundation, at Ludwig Maximilian University Eye Clinic at the time of the study. The authors have no proprietary or financial interest in any material used in the study.