The cumulative advances in our understanding of NF1 prompt the need to consider if additional clinical signs, such as juvenile xanthogranulomas (JXG), nevus anemicus (NA), or choroidal abnormalities, as well as proof of a pathogenic variant, may help to establish an early NF1 diagnosis, especially in children.40 However, screening for JXG, NA, and choroidal abnormalities was not routinely done in the current study. The gene discussed is NF1; the disease is neurofibromatosis type 1.