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Collegium antropologicum, Vol. 29 - Supplement 1 No. 1, 2005.

Original scientific paper

Eye Disorders in Neurofibromatosis (NF1)

Rajko Kordić
Zlatko Sabol
Branimir Cerovski
Damir Katušić
Tomislav Jukić

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page 29-31

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Abstract

Neurofibromatosis type 1 (NF 1) is an autosomal dominant disorder with high index of spontaneous mutations and
extremely varied and impredictible clinical manifestations. The aim of this work was to give an account of eye disorders
in NF1. 132 patients of age 0–16 years with NF1 were followed up for 15 years. They were checked repeatedly for
ophthalmologic disorders. Frequent eye disorders were: Lisch nodules (Iris hamartomas, IH) 78%, hyperthelorism
19.7%, bulbomotoric disorders 15.9%, disorders of the optic disc 16.7% and optic gliomas (18.9%). The highest incidence
of eye disorders by NF1 patients showed Lisch nodules (IH). Its ease of clinical recognition and if present with
other diagnostic signs (for instance café au lait patches) could be deemed as reliable diagnostic criterion of NF1 in
childhood.

Keywords

eye disorders; neurofibromatosis

Hrčak ID:

27899

URI

https://hrcak.srce.hr/27899

Publication date:

20.6.2005.

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