vestibular schwannomatosis

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

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.

Signs and symptoms

• Vestibular schwannoma
• Bilateral vestibular schwannoma
• Juvenile posterior subcapsular lenticular opacities
• Posterior subcapsular cataract
• Unilateral vestibular schwannoma
• Cataract
• Peripheral schwannoma
• Cafe-au-lait spot
• Meningioma
• Cortical cataract

Also known as: ACN; BANF; NF2; NF2-related schwannomatosis; SWN3