Background/Objectives: The optic pathway glioma affected 15-20% of children with neurofibromatosis type 1 (NF-1), threatening vision function. The natural history of disease is unclear. We aim to describe the incidence and outcome of children with NF1 referred to our regional centre. Design/Methods: Retrospective case note review of 119 newly diagnosed NF-1 patients referred between 01.01.2008 and 31.12.2018 to the regional pediatric neuro-oncology ser- vice and rare disease center was carried out to determine the incidence, outcome and treatment of children affected by OPG. The descriptive analysis was used to determinate the populations characteristic. A p-value <0.05 was considered significant. Results: We enrolled 119 patients: 58 were males (49%), and 12/119 presented OPG (10%). All children affected by NF- 1 performed imaging (MRI), classified with modified Dodge Classification and visual exams as disease follow up. The mean age at diagnosis of OPG was 6.7 years old (SD +/- 5.3 years). The mean follow up was 106 months (SD +/- 69 months). 4/12 presented visual signs of OPG, whereas 8/12 were asymptomatic. Children with visual alteration presented at MRI PLAN 3/4 negative (2/4), and PLAN 3-4 positive: 2/4. The radiological progression was found on 5/12 patients, and only 1/5 patients received treatment. 3 patients received chemotherapy for the visual: 1 at the diagnosis for poor vision and the other 2 for progressive visual deterioration. Conclusions: The OPG outcome remains unpredictable. Our cohort of NF-1 patients shows that the most important out- come for the choice of treatment is the vision function. The MRI could be useful at the diagnosis of disease, but not for the treatment choice.
