Background: Neurofibromatosis type 2 (NF2) is a disorder with autosomal dominant inheritance which leads to tumor growth in the central and peripheral nervous system. In affected adult patients there is a typical association with ocular abnormalities like juvenile cataract.
Methods: Ophthalmologic investigation was carried out in ten children aged one to fourteen years with suspected NF2. The diagnosis was confirmed by further clinical examination and-in one patient-by segregation analysis.
Results: Nine of these ten children showed ocular abnormalities such as juvenile subcapsular cataracts, retinal hamartomas, optic nerve sheath tumors, fibrotic maculopathies as well as one case of a perineural calcification of the optic nerve and one case of a cerebral hamartoma on the ground of the third ventricle.
Discussion: In six children ophthalmological symptoms were the presenting symptom of the disease. The knowledge of these symptoms allows for the diagnosis of NF2 in children who present with isolated ocular deficits or with other typical criteria of the disease. The early diagnosis of the disease may lead to an improved prognosis with regard to preservation of hearing by surgery of bilateral vestibular schwannoma which occur in more than 90% of the NF2-patients.