A Novel Mutation in Neurofibromatosis Type 1 with Optic Glioma

Neurofibromatosis type 1 is an autosomal dominant disorder which is characterized by multiple cafe-au-lait spots in the body, intertriginous freckles, Lisch nodules, neurofibroma, optic glioma and bone dysplasia. One of the clinical characteristics of Neurofibromatosis type 1 is the risk of benign and malignant tumor development. Optic gliomas, a type of astrocytoma. are the most common central nervous system complication in children with Neurofibromatosis type 1 and are seen in 10-15% of cases. In this case report, a patient with an optic glioma and a mutation that was not previously identified in the NF1 gene is presented in the light of the literature. Identification of new mutations that cause Neurofibromatosis type 1 disease and reporting of clinical findings caused by the mutations will allow a large proportion of genotype-phenotype correlation. Early diagnosis has a great importance in terms of followup of patients for malignancies that may develop in the future.