Neurofibromatosis Type II

Clinical Characteristics
Ocular Features: 

It is not uncommon for children to present with visual complaints secondary to cataracts, retinal hamartomas, or optic nerve damage from a schwannoma.  The most common eye findings are juvenile cataracts (up to 80% of patients), followed by epiretinal membranes in 12-40%, and retinal tumors in 6-22%.  Lens opacities may be located in the posterior subcapsular region or as cortical wedge-shaped opacities in the periphery where they are easily missed if the pupil is not fully dilated.  Translucent, grayish epiretinal membranes with white edges are present in a significant number of patients, including children.  Elevated retinal hemartomas in the macula are often associated with pigmentary changes.  Lisch nodules characteristic of type I neurofibromatosis (162200) are generally not found in type II.  Corneal damage may occur as a complication of hypesthesia resulting from damage to the fifth cranial nerve.

CT scans reveal calcification along the optic nerve in a "tram-track" configuration which occurs in 20-30% of patients with NF type II.

Systemic Features: 

Type II neurofibromatosis often presents in the third or fourth decade of life as hearing loss accompanied by tinnitus and dizziness. A significant proportion of children (30%) present with the same symptoms although they are more likely to complain of visual disturbances. Type II accounts for about 10% of neurofibromatosis cases.  Acoustic neurinomas, usually bilateral, are far more common in type II (95%) and are considered diagnostically distinctive by some.  Such schwannomas also occur in other cranial and peripheral nerves.  Neurofibromas are uncommon but meningiomas, ependymomas, and astrocytomas are seen frequently. Schwannomas can form anywhere along peripheral nerves and at least a third of patients require surgical excision of one or more of these lesions.  These account for the majority of skin plaques and lumps and are found in more than half of patients.  Caf√©-au-lait spots are uncommon or even absent in many patients with type II.  Patients with type II neurofibromatosis do not have the cognitive problems sometimes seen in those with type I.

Longevity overall is reduced.  The average patient lives about 15 years after diagnosis and the average age of death is 36 years.


Type II neurofibromatosis is an autosomal dominant disorder caused by mutations in the NF2 gene (22q12.2) which encodes neurofibromin-2, sometimes called merlin or schwannomin.  This protein product, like neurofibromin in type I (162200), functions as a tumor suppressor.  New mutations are responsible for approximately half of cases.

Cognitive deficits and Lisch nodules on the iris are more commonly found in neurofibromatosis type I (162200) but acoustic neuromas are less common.  Type I results from mutations in NF1.

Treatment Options: 

Early surgical treatment of small acoustic and facial schwannomas can preserve nerve function in many cases.  This is a progressive disease requiring lifelong monitoring for disease progression.  The peripheral lens opacities usually do not progress and therefore cause little visual morbidity.

Article Title: 

Neurofibromatosis type 2. Review

Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR. Neurofibromatosis type 2. Review. Lancet. 2009 Jun 6;373(9679):1974-86.

PubMed ID: 


Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR. Neurofibromatosis type 2. Review. Lancet. 2009 Jun 6;373(9679):1974-86.

PubMedID: 19476995

McLaughlin ME, Pepin SM, Maccollin M, Choopong P, Lessell S. Ocular pathologic findings of neurofibromatosis type 2. Arch Ophthalmol. 2007 Mar;125(3):389-94.

PubMedID: 17353411

Bouzas EA, Parry DM, Eldridge R, Kaiser-Kupfer MI. Visual impairment in patients with neurofibromatosis 2. Neurology. 1993 Mar;43(3 Pt 1):622-3.

PubMedID: 8451014

Landau K, Dossetor FM, Hoyt WF, Muci-Mendoza R. Retinal hamartoma in neurofibromatosis 2. Arch Ophthalmol. 1990 Mar;108(3):328-9.

PubMedID: 2310328