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  • Title: Iris hamartomata as diagnostic criterion in neurofibromatosis.
    Author: Flüeler U, Boltshauser E, Kilchhofer A.
    Journal: Neuropediatrics; 1986 Nov; 17(4):183-5. PubMed ID: 3100979.
    Abstract:
    We have investigated a personal series of 90 patients with the ("classical") peripheral form of neurofibromatosis (NF) for iris hamartomata (IH). Of subjects aged 6 years or older, 97% had IH. IH were unilateral in 8 patients. IH were not found in 44 unaffected first degree relatives of patients with NF or in normal persons seen during the study period. We consider IH a reliable diagnostic criterion to be added to the list of diagnostic features. In childhood the incidence of IH exceeds that of cutaneous neurofibromas and axillary freckling.
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