| Synonyms: |
ACN,
acoustic neurofibromatosis,
BANF,
bilateral acoustic neurinoma,
bilateral acoustic neurofibromatosis,
bilateral acoustic schwannomas,
central neurofibromatosis,
familial acoustic neuromas,
neurofibromatosis 2,
neurofibromatosis type II,
NF2,
NF2-related schwannomatosis,
schwannomatosis 3,
SWN3,
SWNV
|
| Definition: |
A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. |