To report a case of moyamoya syndrome after an additional diagnosis of neurofibromatosis type 1 (NF 1) using an ophthalmic examination in a middle-aged patient with moyamoya disease.

A 60-year-old male with no specific past medical history except moyamoya disease visited our hospital for an ophthalmic examination. Two years prior, he had been diagnosed with moyamoya disease by brain imaging performed after a head trauma. At the first visit, his best corrected visual acuity was no light perception in the right eye (OD) and 20/25 in the left eye (OS). The intraocular pressure was 8 mmHg (OD) and 10 mmHg (OS). On fundus examination, the right eye showed a dense opacity of an ocular media and the left eye showed no abnormality except an increased cup-to-disc ratio. However, infrared imaging showed multiple whitish lesions in the left eye. Fluorescein angiography showed a patchy choroidal filling delay. During the follow-up, slit-lamp microscopy revealed Lisch nodules and multiple café au lait spots and neurofibromas were found in the skin which led to the diagnosis of NF 1.

When examining patients with moyamoya disease, ophthalmologists should check not only ocular comorbidity associated with moyamoya disease but also ocular comorbidity with other systemic diseases that can accompany moyamoya disease. NF 1 is the most common systemic disease associated with moyamoya syndrome. In this case, appropriate follow-up was essential to monitor the development of ocular or systemic vasculopathies and their complications.