What Is Neurofibromatosis Type 2?
Neurofibromatosis type 2 (NF2) is most commonly characterized by bilateral vestibular schwannomas, or benign tumors of the eighth cranial nerve, which functions to transmit signals from the ear to the brain. These tumors often lead to partial or complete hearing loss. Other features can include schwannomas of other cranial or peripheral nerves, and other tumors such as meningiomas (tumors of the membranes that surround the brain and spinal cord) and ependymomas. Cataracts also can occur, potential compromising vision.
NF2 affects approximately 1 in 25,000 people regardless of sex or ethnicity.
Neurofibromatosis type 2 is caused by a change in a gene located on chromosome 22. NF2 is inherited as a dominant trait, giving an affected person a 50-percent risk of passing on the condition to each of their offspring. Like for NF1, approximately 50 percent of cases are sporadically affected, with no previous family history of the condition. Genetic testing for NF2 currently detects 90 percent of mutations.
Although the majority of patients with NF2 develop symptoms in their late teens or twenties, approximately 10 percent will present in childhood, usually with tinnitus (ringing in the ears), hearing loss, or problems with balance.
To date, treatment for NF2 focuses on surgery and radiation therapy, although clinical trials and research are ongoing in hopes of improving the health and quality of life for affected people and their families.