Neurofibromatosis Type 1: Review and Update on Emerging Therapies

Abstract

Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder affecting 1 in 3000 births. This familial tumor predisposition syndrome is diagnosed clinically and affects the skin, bones, and nervous system. Malignant tumors can arise in childhood or adulthood and are the most common cause of mortality in this population. Early diagnosis and management led by a multidisciplinary team remains the standard of care, particularly in the management of optic pathway glioma. Emerging concepts in the genetic patterns of this condition have led to the introduction of new treatment modalities that target the mitogen-activated protein kinase and the mammalian target of rapamycin pathways. In this review, the role of the ophthalmologist and approach to screening for optic pathway glioma are outlined based on previous recommendations. Updates on choroidal involvement, as a diagnostic criterion, will also be discussed, further highlighting the pivotal role of the ophthalmologist in the diagnosis and management of this complex condition.

Keywords: choroidal nodules; neurofibromatosis 1; optic pathway glioma; phakomatoses.