Optical coherence tomography angiography of choroidal nodules in neurofibromatosis type-1: A case series

摘要

Purpose: To describe optical coherence tomography angiography (OCTA) findings in the retina and choroid of patients with neurofibromatosis type 1 (NF1). Methods: We describe a series of four patients diagnosed with NF1 and choroidal nodules who underwent a comprehensive ophthalmic evaluation including a retinal multimodal imaging study based on retinography, near-infrared reflectance imaging (NIR), enhanced depth imaging (EDI) optical coherence tomography (OCT) and OCTA. Results: Patients were three women and one man aged 36-47 years. In all patients, the choroidal nodules were not visible in retinographies but easily detectable with NIR, appearing as multiple bright patches. On OCTA, we observed reduced vessel density in the choriocapillaris in zones where choroidal nodules appeared in OCT images. In one patient, a corkscrew vessel was visible in the superficial capillary plexus. Conclusion: Choriocapillaris vessel density was reduced in zones where choroidal nodules occur in NF1 patients. Further work is needed to clarify the clinical relevance of this finding.