Neurofibromatosis Program

Our approach to neurofibromatosis care

We usually diagnose NF by doing a physical exam and checking for clinical signs. Skin and eye exams can help us diagnose NF1. Physicians at Massachusetts Eye & Ear conduct a careful ophthalmic assessment.

Sometimes we use imaging to diagnose NF2. Genetic testing is not usually necessary. However, it may help identify children who have NF, but don’t show signs yet.

Most patients with NF have mild-to-moderate symptoms and don’t need active treatment. Still, we closely monitor problems that may occur with NF, including:

• Attention-deficit/hyperactivity disorder (ADHD)
• Benign tumors, like neurofibromas and schwannomas
• Headaches
• Learning disabilities
• Osteoporosis

If new health concerns develop, we work together with the appropriate specialists to make sure your care addresses all your needs.

Through Mass General Brigham, you have access to various specialists, such as:

• Genetic counselors
• Endocrinologists
• Learning specialists
• Neurologists
• Neuro-oncologists
• Ophthalmologists
• Orthopedic surgeons

Since NF is a genetic condition, prospective parents with NF are often concerned about whether their children may inherit it.

We offer genetic counseling and testing for prospective parents with NF. These services can future parents better understand their options and ways they can reduce the chances of their child having NF.

For some people with NF, surgery can help relieve pain, address concerns about their appearance, or improve function. If patients have hearing loss, we can help restore it with an implantable prosthesis.

We also offer surgery for vestibular schwannomas (acoustic neuromas) associated with NF2. We provide more of these procedures than any other center in the region.

Our physicians were the first to identify the gene responsible for NF2 and are actively involved in research to improve NF testing and treatment.

Our research focuses on:

• Genetic research to learn more about NF symptoms
• Identifying new, targeted therapies for NF
• Improving quality of life for people with NF
• Making testing for NF more effective