Yasunari nodules

specific marker of neurofibromatosis type 1

Abstract

Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder. Ocular involvement is a common manifestation, with the choroid being one of the structures most commonly affected. The diagnosis of choroidal involvement in NF1 is crucial for appropriate ophthalmological management of these patients.

Case report: A 34-year-old woman presented to our hospital center referred by the dermatology department. On examination, her best-corrected visual acuity was 20/20 and the slit lamp examination was normal in both eyes. Fundus examination revealed multiple nodules in the choroid, which were better visualized on infra-red imaging.

Conclusion: Yasunari nodules are considered a specific marker of NF1, thus their detection is relevant for the diagnosis of choroidal involvement crucial for appropriate management of these patients.