Prevalence of neurofibromatosis type 1 in patients presenting with neurofibromas of the eyelid and orbit

Abstract

Aims: This study aimed to demonstrate the prevalence of neurofibromatosis type 1 diagnosis in patients presenting with neurofibromas of eyelid and orbit and the factors associated with this disease. Materials and Methods: Charts from patients with pathology reports of neurofibroma of the eyelid and orbit from the MUHC-McGill University Ocular Pathology Laboratory from 2007 to 2022 were reviewed to find information about clinical diagnosis of neurofibromatosis type (NF) 1, sex, age, presence of Lisch nodules, and other findings. The data were analyzed with the Chi-square test and Fisher’s exact test. Results: The prevalence of NF1 in patients presenting neurofibromas of the eyelid and orbit was 47.62% in the population studied. All patients with plexiform neurofibromas and all the ones presenting Lisch nodules had an NF1 diagnosis. Conclusion: All patients with plexiform neurofibromas of the eyelid or orbit and their relatives should be investigated for NF1. Ophthalmological evaluation is essential for the identification of Lisch nodules since their presence, associated with two neurofibromas are enough to meet the criteria for NF1; therefore, the family of patients with that presentation should be clinically, and if necessary, genetically tested.

Keywords

• neurofibroma
• neurofibromatosis type 1
• plexiform