Título

Unveiling the Diagnosis of Neurofibromatosis through Yasunari Nodules: A Case Report

Objetivo

The current investigation aims to offer a multimodal examination of retinal Yasunari nodules, an unexpected discovery in a patient who subsequently manifested clinical features of neurofibromatosis.

Relato do Caso

A 25-year-old male patient presented complaint of decreased visual acuity in the left eye. The examination revealed rhegmatogenous retinal detachment (RD) in the affected eye, with no complaints in the right eye. A posterior vitrectomy with scleral buckle was performed to treat the RD. Subsequently, a postoperative multimodal evaluation, including infrared fundus examination, revealed the presence of bright, patchy regions across the posterior pole suggestive of Yasunari nodules in both eyes. Furthermore, upon clinical examination, the patient was found to have "café au lait" spots on the neck and chest, indicating potential neurofibromatosis. As ophthalmologists, we referred the patient to a rheumatologist for further evaluation and management of the systemic condition.

Conclusão

The diagnosis of neurofibromatosis type 1 (NF1) is predicated upon the identification of at least two specific criteria. In certain cases, diagnosis may rely upon the results of an ophthalmic examination, which may reveal either Lisch nodules or visual impairment associated with optic pathway glioma. Lisch nodules represent a classic ocular manifestation of NF1, though their presence is not always apparent. Yasunari nodules which are asymptomatic choroidal lesions of unknown etiology, may serve as an alternative diagnostic criterion. These nodules are characterized by concentrically arranged neoplastic Schwann cell proliferations surrounding axons. On optical coherence tomography (OCT), Yasunari nodules appear as hyperreflective choroidal lesions that may correspond to nodules compressing overlying choroidal vessels. Their detection has been facilitated by recent developments in imaging techniques, such as OCT and infrared reflectance, which enable detection even in pediatric patients.