Abstract

PURPOSE:

Neurofibromatosis type 1 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 21th 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.