Pulsating Enophthalmos as an Initial Symptom of Neurofibromatosis Type 1.

Abstract

We report a neurofibromatosis type 1 (NF-1) patient with pulsating enophthalmos as the first symptom. A 25-year-old female presented to us with posterior displacement of the left eye and a headache. The patient had enophthalmos with pulsations. A slit lamp examination revealed bilateral Lisch nodules and a computed tomography scan of the orbit demonstrated aplasia of the greater wing of the sphenoid bone on the left. The patient had café-au-lait macules, a history of scoliosis, and splenectomy operations. Genetic counseling confirmed the diagnosis of NF-1. NF-1 is a multisystemic, autosomal dominant genetic disease with cutaneous, neurologic, cardiovascular, and ophthalmologic manifestations. Dysfunction of tumor suppressor gene NF-1 is the main cause. Therefore, periodic screening for tumor development is required. Since NF-1 has several neuro-ophthalmological findings, ophthalmologists can play a significant role in its diagnosis and management.