The ophthalmologist has an important role in diagnosing and treating of neurofibromatosis. Consult neurosurgeons, orthopedists, and dermatologists as other systemic manifestations arise. Mildly affected patients may have little dysfunction and lead normal lives. More severely affected individuals have poorer survival rates than the general population. Visual prognosis is related predominantly to the presence or the absence of an optic pathway glioma or congenital glaucoma.
Genetic counseling is necessary for NF patients and families.
Approximately one-half of all cases of NF occur by spontaneous mutation. The presence of a mild form in a family member does not predict the course of the disease in another family member. Careful ophthalmologic examination is necessary with periodic follow-up care. Special attention should be directed to optic nerve function to detect previous undiagnosed gliomas of the optic nerve. Psychosocial difficulties are common in NF-1.