Neurofibromatosis (NF) is an inherited disease affecting multiple systems in the body. The eye is frequently affected in neurofibromatosis, and therefore ocular manifestations play a major role in the diagnosis of NF. This chapter aims to explore the spectrum of ocular manifestations found in neurofibromatosis highlighting the importance of ophthalmic exam in these patients. It will describe various intraocular manifestations involving the iris, lens, and retina. It will be focusing on glaucoma and the pathogenesis behind it in this group of patients. Moreover, periorbital and orbital involvement such as skin neurofibromas and optic nerve gliomas will be discussed along with some of their histopathological findings.
Although neurofibromatosis (NF) was initially recognized in the nineteenth century, only in the past two decades we have witnessed a paradigm shift in therapeutics. This progress is driven by the increasing understanding of the natural history of the NF-associated tumors and understanding of the molecular landscape of these disorders. Multiple clinical trials have been launched evaluating non-surgical treatment modalities and more studies are in the pipeline. Recently, the NF community has adopted standardized endpoints recommended by the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration established in 2011. Such collaborations among academic, regulatory and supporting communities are crucial for providing the infrastructure needed for advancing the therapeutic development in the field of NF.
Two patients, a 5-year-old girl and a 3-year-old boy, with documented neurofibromatosis (NF-1) and visual pathway gliomas are reported. In the first patient, the tumor was a typical pilocytic astrocytoma confined to the proximal half of the right optic nerve just near the globe. The tumor was excised; after a follow-up of 7 years recurrence has not occurred. The second patient had a glioma of the left optic nerve, with involvement of the chiasm, optic tracts, probably lateral geniculate body, optic radiations and basal ganglia. Biventricular hydrocephalus, possibly due to the occlusion of Monro's foramina, was also noted. In this case, magnetic resonance imaging (MRI) was superior to computed tomography for visualizing the posterior extension of the lesions. The patient received X-ray therapy and after a follow-up of 3 years the clinical symptomatology remains stationary. It is suggested that the optic pathway involvement detected by MRI may represent a dysplastic element NF-1 rather than a truly neoplastic change.
