Exploring Optic Glioma and Type 1 Neurofibromatosis: A Literature Review of Case Reports

NF1 is an autosomal dominant neurocutaneous condition caused by mutations in the NF1 gene, with a global prevalence of 1 in 3,000 individuals. Optic pathway gliomas (OPGs) are the primary brain tumours in NF1, affecting 15-20% of cases, mainly in children, with varied symptoms. We aim to explore the clinical, radiological and treatment features of OPGs in paediatric and adult NF1 populations. We conducted a literature review of case reports involving 53 patients diagnosed with NF1 and OPGs. OPGs were more prevalent in children than in adults, and more common in females than males. Vision loss and visual field defects were the most common clinical signs in both groups. Neither exophthalmos nor nystagmus was noted in adults. OPGs were often bilateral in children and more commonly unilateral in adults. The most common feature observed was heightened intensity in T2, with children exhibiting a more fusiform appearance compared to adults. The involvement of the optic nerve was the most common localisation. No significant differences were observed between children and adults regarding brain MRI characteristics. Chemotherapy alone was the most common treatment. Seven cases showed improved vision, 22 exhibited stable symptoms, and 19 experienced decreased vision, with one reporting no light perception. Further adult studies are necessary to elucidate population differences and understand varied symptom onset across age. Collaborative efforts in diagnosis and management are crucial for optimising care in NF1 patients with OPGs.