Neurofibromatosis type 2

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Neurofibromatosis types 1 and 2 share some clinical features and both are inherited in an autosomal dominant pattern. Type 2 (NF2) is characterised by bilateral acoustic neuromas and a high risk of cataract. The affected gene is on chromosome 22, and encodes a protein called Merlin, which has been implicated in cell surface remodelling and tumour suppression. Patients develop acoustic neuromas (vestibular schwannomas), which are often bilateral. Other central nervous system tumours are less common, and include neurofibromas, meningiomas and gliomas. The principal ocular complication is juvenile posterior sub capsular cataract, which affects two-thirds of patients and usually develops before age 30. Hamartomas of the retinal pigment epithelium and retina are common.