Neurofibromatosis type 1 is an autosomal dominant genetic disease, which belongs to the neuro-oculo-cutaneous syndromes (phakomatoses). The authors present a case of a girl with familial neurofibromatosis. In addition to typical skin lesions and Lisch nodules on the iris, the plexiform neurofibroma of the upper eyelid and orbit as well as hamartoma of the central nervous system were observed. Due to the massive infiltration of the left upper eyelid causing its complete ptosis and, in turn, the amblyopia of the left eye, the tumour was partially rexcised. This lesion is not totally removable in most cases due to the early development of neurofibroma during the fetal period and its strong adhesion to the healthy tissues. A massive eyelid infiltration causing amblyopia and dissociation of binocular vision is an indication for early surgery.
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