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Case Reports
. 2019 Jan-Feb;170(1):e4-e9.
doi: 10.7417/CT.2019.2101.

A characteristic type of retinal microvascular abnormalities in a patient with Neurofibromatosis type 1

A Moramarco  1 , A Lambiase  1 , F Mallone  1 , E Miraglia  2 , S Giustini  2
Affiliations
Free article
Case Reports

A characteristic type of retinal microvascular abnormalities in a patient with Neurofibromatosis type 1

A Moramarco et al. Clin Ter. 2019 Jan-Feb.
Free article

Abstract

This study aims to describe a typical retinal microvascular abnormality in patients with neurofibromatosis type 1 (NF-1). A 64-year-old man with diagnosis of NF-1 was evaluated by complete ophthalmological examination, including fluorescein angiography and spectral Domain OCT in Near-Infrared (NIR-OCT) modality. Slit lamp exam showed the presence of more than 10 Lisch nodules for each eye. Ophthalmic examinations and NIR-OCT scans showed the presence of retinal tortuous vessels ending in a 'puff of smoke' arrangement. The clinical significance as diagnostic and prognostic factor of this novel type of retinal microvascular abnormality in NF-1 should be further investigated.

Keywords: Microvascular abnormalities; Moya-Moya disease; NIR-OCT; Neurofibromatosis; Retina.

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