NF1 can be diagnosed using the revised diagnostic criteria which include the presence of two of the following: ≥ six café-au-lait-macules, skinfold freckling, neurofibromas, optic pathway glioma (OPG), Lisch nodules or choroid abnormalities, bone dysplasia, the presence of a heterozygous pathogenic NF1 variant, and the presence of a parent with NF1.2 This evidence concerns the gene NF1 and neurofibromatosis type 1.