What's neurofibromatosis type 2?
Neurofibromatosis type 2 (NF2) is a hereditary tumor-predisposition syndrome driven by loss-of-function variants in the NF2 gene, which encodes the tumor-suppressor protein merlin. Its hallmark is bilateral vestibular schwannomas (benign tumors on both balance/hearing nerves), along with other schwannomas, meningiomas, and ependymomas. It is inherited in an autosomal dominant pattern, and roughly half of cases arise from new (de novo) variants. Under a 2022 reclassification the condition is also termed NF2-related schwannomatosis. It is distinct from neurofibromatosis type 1 (NF1), which centers on cafe-au-lait macules and neurofibromas.
| Also indexed as | OMIM:101000, MONDO:0007039 |
|---|---|
| Features mapped | 17 |
| Treatments mapped | 5 |
| Published sources | 15 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Bilateral vestibular schwannoma
In NF2-related schwannomatosis (NF2), benign tumors called vestibular schwannomas typically grow on the hearing-and-balance nerve on both sides. These bilateral vestibular schwannomas are a defining feature of the condition, and as they grow they can progressively cause permanent sensorineural hearing loss (hearing loss from damage to the nerve or inner ear).
Vestibular schwannoma
A vestibular schwannoma is a benign (non-cancerous) tumor that forms on the vestibulocochlear nerve, the eighth cranial nerve that carries hearing and balance signals. In NF2 these are the most characteristic tumors of the condition.
Astrocytoma
Astrocytomas are tumors arising from star-shaped support cells in the brain and spinal cord. They are among the other central nervous system tumors that can occur in NF2, in addition to schwannomas and meningiomas.
Retinal hamartoma
A retinal hamartoma is a benign growth of the tissue of the retina, the light-sensing layer at the back of the eye. Such retinal hamartomas can occur as one of the eye findings in NF2.
Meningioma
Meningiomas are tumors that grow from the membranes covering the brain and spinal cord. In NF2 they are a characteristic feature, and people with NF2 often develop multiple schwannomas and meningiomas.
Peripheral schwannoma
Besides the vestibular nerve tumors, people with NF2 can also develop schwannomas on other peripheral nerves. These nonvestibular schwannomas may form in addition to the bilateral vestibular schwannomas that most people with NF2 have.
Ependymoma
Ependymomas are tumors that arise from the lining cells of the spinal cord or the fluid spaces of the brain. They are among the central nervous system tumors that can develop in NF2, alongside schwannomas of cranial, spinal, and skin nerves and cranial and spinal meningiomas.
Posterior subcapsular cataract
A posterior subcapsular cataract is a clouding at the back of the eye's lens. In NF2 this kind of cataract can develop, sometimes early in life, and it has been described as one of the eye findings of the condition.
Epiretinal membrane
An epiretinal membrane is a thin sheet of scar-like tissue that can form on the surface of the retina, the light-sensing layer at the back of the eye. In NF2 it can be an important sign of the condition.
Cataract
A cataract is a clouding of the eye's lens. In NF2, cataracts can appear unusually early, in childhood or young adulthood (juvenile cataract), and are recognized as one of the characteristic features of the condition.
Autosomal dominant inheritance
NF2 is passed on in an autosomal dominant pattern, meaning a single altered copy of the NF2 gene is enough to cause the condition and a parent who carries it can pass it to a child. Some people are the first in their family to have it, with no affected parent.
Hearing impairment
Hearing impairment is one of the most common ways NF2 first shows itself. Many people with NF2 notice reduced hearing, often together with tinnitus, dizziness, and balance problems.
Tinnitus
Ringing or buzzing in the ears (tinnitus) is a common early symptom in neurofibromatosis type 2, caused by the vestibular schwannomas pressing on the hearing nerve. It often appears alongside gradual hearing loss.
Vertigo
Balance problems are common in NF2 because the tumors affect the balance part of the hearing-and-balance nerve. Adults with NF2 typically first notice hearing loss together with disturbances of balance.
Reduced visual acuity
Vision can be reduced in neurofibromatosis type 2 from a combination of cataracts, retinal changes, and tumors affecting the optic pathway. Visual impairment is common, so regular eye examinations are part of routine care.
Hydrocephalus
Hydrocephalus is a buildup of fluid in the brain that can raise the pressure inside the skull. In NF2 it can develop as a complication, for example when tumors block the normal flow of this fluid.
Sensorineural hearing impairment
Sensorineural hearing loss happens when the hearing nerve or inner ear is damaged. In NF2 it is typically caused by the vestibular schwannomas pressing on or affecting the hearing nerve, and it can worsen progressively and become permanent.
How it is diagnosed
Neurofibromatosis, type II
Diagnosed using: magnetic resonance imaging.
“Magnetic resonance imaging of brain and neck revealed multiple mass lesions over the bilateral cerebellopontine angle cisterns, extending to the bilateral internal auditory…”
Neurofibromatosis, type II
Diagnosed using: genetic testing.
“Clinical diagnosis is confirmed by neuroimaging and genetic…”
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
bevacizumab
Bevacizumab is an anti-VEGF antibody used off-label in NF2, mainly for vestibular schwannomas. It can shrink or stabilize tumors and improve or preserve hearing in some people, though responses vary and tumors may regrow if it is stopped; it carries side effects that need monitoring.
Used to help with: Neurofibromatosis, type II.
“Bevacizumab remains the most studied and clinically active systemic therapy for NF2-related…”
surgical resection
Surgery to remove tumors is a mainstay of NF2 care, generally reserved for tumors that are causing symptoms or enlarging, and balanced against the risk to nerve function.
Used to help with: Neurofibromatosis, type II.
“…surgical resection pursued for symptomatic or enlarging…”
radiation therapy
Radiation therapy, including stereotactic radiosurgery, is used selectively for NF2 tumors. It is weighed carefully because it can affect hearing and carries a small long-term risk of malignant change.
Used to help with: Neurofibromatosis, type II.
“Radiation therapy, by contrast, is employed…”
stereotactic radiosurgery
Stereotactic radiosurgery, such as Gamma Knife, delivers tightly focused radiation to a tumor in one or a few sessions without open surgery. It is one of the options used to treat the vestibular schwannomas of NF2.
Used to help with: Neurofibromatosis, type II.
“He underwent gamma knife stereotactic radiosurgery for bilateral vestibular…”
cochlear implantation
A cochlear implant is a device that can restore some hearing by directly stimulating the hearing nerve. In NF2, cochlear implantation placed at the time of vestibular schwannoma surgery has been found feasible and to offer long-term functional benefit for carefully selected people.
Used to help with: Neurofibromatosis, type II.
“CI immediately after VS resection is feasible and offers long-term functional…”
How to read the evidence labels
Where this comes from
This guide is built from 15 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.