Glaucoma and Globe Enlargement Associated with Neurofibromatosis Type 1

Objective: To describe the features of glaucoma and globe enlargement sometimes associated with neurofibromatosis type 1 (NF1). Design: Single institution, retrospective, and cross-sectional study. Participants: Eighty medical records of patients treated at King Khaled Eye Specialist Hospital in Saudi Arabia with NF1 were reviewed, and 46 patients were examined. Methods: We reviewed the charts of patients with NF1 and examined available individuals, including gonioscopy, axial length, and ultrasound biomicroscopy in appropriate patients. Main Outcome Measures: Presence and type of glaucoma, anterior chamber angle abnormalities, globe axial length, ultrasound biomicroscopy, and visual outcome. Results: Two patient groups were identified: Group 1 had 56 patients with orbito-facial NF1, and group 2 had 24 patients with NF1 but without orbito-facial involvement. Group 1 included 13 patients with glaucoma (23%), which occurred only ipsilateral to the orbito-facial involvement and generally presented before age 3 years. Glaucoma surgery was required in all of these patients, and visual prognosis was poor. In group 1, mean axial length on the side affected by NF1 was 29.8±4.1 mm in patients with glaucoma and 25.6±2.0 mm in patients without glaucoma. Patients with glaucoma (P < 0.001) and without glaucoma (P < 0.0001) in group 1 had significantly larger globes on the affected side. Group 2 patients had a mean axial length of 23.6±1.6 mm for both eyes without significant globe asymmetry. Conclusions: In this Arab population, glaucoma associated with orbito-facial NF1 occurred less often than the 50% rate that is typically cited. Glaucoma presented early in life and only in patients with ipsilateral orbito-facial involvement. Glaucoma in this setting was always associated with globe enlargement. Glaucoma required surgery, and visual prognosis was poor because of glaucoma and concurrent pathology. Globe enlargement was most severe when associated with glaucoma but also present on the side with orbito-facial involvement in patients without glaucoma. The presence of neurofibroma may induce globe enlargement on the affected side in orbito-facial NF1. Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article. © 2009 American Academy of Ophthalmology.