title: [Eye involvement in neurofibromatosis].
abstract: Neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) are characterized by an autosomal dominant pattern of inheritance with irregular penetrance and a broad spectrum of different clinical phenotypes. There are large variations in the age of onset, progression and prognosis. Symptoms are often manifested early in childhood. Characteristics which the two main forms NF1 and NF2 have in common are a positive family history, characteristic skin alterations, such as café au lait macules, axillary or inguinal freckling and neural tumors such as neurofibroma and optic glioma (NF1) as well as (bilateral) vestibular schwannomas (NF2). An interdisciplinary cooperation is necessary for the diagnostics and therapy.
authors.affiliation: Augenklinik und Poliklinik, Universitätsmedizin Mainz, Langenbeckstr. 1, 55131, Mainz, Deutschland. michaela.baier@unimedizin-mainz.de.
authors.forename: M
authors.initials: M
authors.lastname: Baier
authors.affiliation: Augenklinik und Poliklinik, Universitätsmedizin Mainz, Langenbeckstr. 1, 55131, Mainz, Deutschland.
authors.forename: S
authors.initials: S
authors.lastname: Pitz
mesh_terms: D003937:Diagnosis, Differential; D019317:Evidence-Based Medicine; D005134:Eye Neoplasms / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans; D017253:Neurofibromatoses / Q000175:diagnosis* / Q000628:therapy*; D063189:Symptom Assessment / Q000379:methods; D016896:Treatment Outcome
keywords: Diagnosis; Optic glioma; Prognosis; Progression; Therapy