OPHTHALMOLOGICAL SPECTRUM OF NEUROFIBROMATOSIS TYPE-2 IN CHILDHOOD

Background Neurofibromatosis type 2 (NF2) is a disorder with autosomal dominant inheritance which leads to tumor growth in the central and p eripheral nervous system. In affected adult patients there is a typica l association with ocular abnormalities like juvenile cataract. Method s Ophthalmologic investigation was carried out in ten children aged on e to fourteen years with suspected NF2. The diagnosis was confirmed by further clinical examination and - in one patient - by segregation an alysis. Results Nine of these ten children showed ocular abnormalities such as juvenile subcapsular cataracts, retinal hamartomas, optic ner ve sheath tumors, fibrotic maculopathies as well as one case of a peri neural calcification of the optic nerve and one case of a cerebral ham artoma on the ground of the third ventricle. Discussion In six childre n ophthalmological symptoms were the presenting symptom of the disease . The knowledge of these symptoms allows for the diagnosis of NF2 in c hildren who present with isolated ocular deficits or with other typica l criteria of the disease. The early diagnosis of the disease map lead to an improved prognosis with regard to preservation of hearing by su rgery of bilateral vestibular schwannoma which occur in more than 90% of the NF2-patients.