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  • Title: [Choroidal melanoma in neurofibromatosis type 2: description of a case].
    Author: Mataftsi A, Zografos L, Chamot L, Schalenbourg A.
    Journal: J Fr Ophtalmol; 2003 May; 26(5):477-80. PubMed ID: 12819605.
    Abstract:
    To the best of our knowledge this is the first description of a choroidal melanoma with documented growth in neurofibromatosis type 2 (NF2). A 20-year-old patient with NF2 presenting deafness due to bilateral acoustic neurinomas and unilateral amaurosis due to a meningioma of the optic nerve developed a pigmented parapapillary choroidal tumor. Despite signs indicating the diagnosis of a melanoma, periodic observation was chosen in order to postpone functional amputation following optic nerve irradiation. The tumor growth was slow during the 5 years that followed, and once progression became rapid, the tumor was treated by accelerated proton beam radiotherapy. One year later, visual acuity diminished due to actinic optic neuropathy and was stabilized at 0.3 for the 2 following years. The tumor presented objective signs of regression, and no sign of metastatic disease was observed. The therapeutic approach in this case provided local control of the tumor while preserving useful visual function.
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