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1/2010
vol. 112 abstract:
Original paper
Neurofibromatosis type 1 – own experiences
Grzegorz Czajkowski
1
,
Jakub Kałużny
2
,
Agnieszka Jatczak-Gaca
1
,
Mariusz Wysocki
1
Online publish date: 2010/03/21
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Purpose: Neurofibromatosis type1 is one of the most common inherited syndromes. The aim of this study was to evaluate eye symptoms on this disease.
Material and methods: 52 patients with neurofibromatosis type 1 were observed (28 males and 24 females), age between 3 and 49 years old (mean 21). The patients were divided into five groups depending on the age: 0-10 years old, 11-20 years old, 21-30 years old, 31-40 years old and older than 40 years. Frequency of the eye symptoms was estimated in each group. Results: The eye sings were observed in 69.2%. Frequency of the eye symptoms were higher in the older groups. After 21th years of age ophthalmological signs were observed in all patients. The most common were café-au-lait spots on the lids, Lisch nodules on the iris, changes in CNS , especially gliomas of the optic pathway, nodular neurofibromas in the orbit region. Conclusions: Eye signs of the disease may be noticed in the most patients with NF 1. After 21-th years of age ophthalmological symptoms are observed in all patients.The frequency of typical well known for NF 1 signs were different and characteristic for each age group. keywords:
neurofibromatosis, von Recklinghausen’s Disease , eye symptoms, Lisch nodules, gliomas |
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