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Neuropediatrics 1986; 17(4): 183-185
DOI: 10.1055/s-2008-1052525
© Georg Thieme Verlag KG Stuttgart · New York

Iris Hamartomata as Diagnostic Criterion in Neurofibromatosis*

Ursula  Flüeler1 , E.  Boltshauser1 , A.  Kilchhofer2
  • 1Department of Pediatrics, University Children's Hospital, CH-8032 Zürich, Switzerland
  • 2Department of Ophthalmology, University Hospital, CH-8091 Zürich, Switzerland
* Presented in part at the European Federation of Child Neurology Societies Meeting, Siena, April 10-13, 1985
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Publikationsdatum:
16. Mai 2008 (online)

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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.

Key words

Neurofibromatosis - Iris hamartomata