Detection of choroidal nodules in a patient with neurofibromatosis type 1

Abstract

A 34-year-old woman with neurofibromatosis type 1 (NF1) diagnosed during childhood was referred to the ophthalmology clinic at Centre Hospitalier Intercommunal de Créteil by the Dermatology Department. She had no visual symptoms. On examination, her best-corrected visual acuity was 20/20 in the right eye and 20/20 in the left eye. Slit lamp examination was normal in each eye. Fundus examination of the both eyes showed multiple scattered pigmented lesions not defined at the posterior pole. Infrared reflectance (IR) imaging (A-B; Spectralis HRA, Heidelberg Engineering Inc, Germany) revealed the presence in each eye of multiple hyperreflective lesions of varying size and number with blurred margins. Multicolor imaging (C-D), performed using the Spectralis MultiColor module showed hyperpigmented lesions with the same features as revealed by the IR images. These choroidal nodules, visible in infrared light, have been called “Yasunari” nodules. Since 2012, near-infrared reflectance has been used to detect Yasunari nodules as a diagnostic criterion for NF1 with choroidal involvement.