NF2-related schwannomatosis is a tumour predisposition disorder that causes multiple benign tumours, including schwannomas. Almost everyone with non-mosaic NF2-related schwannomatosis will develop bilateral vestibular schwannomas, which can lead to tinnitus, balance dysfunction, and profound hearing loss. They often also develop schwannomas on other nerves. Meningiomas are also common and ependymomas occur in approximately 30% of cases. Non-tumour features include cataracts, retinal hamartoma and epiretinal membrane.
NF2-related schwannomatosis has a high frequency of mosaic disease, resulting in segmental disease or a milder phenotype.
NF2