A characteristic type of retinal microvascular abnormalities in a patient with Neurofibromatosis type 1
V. 170 N. 1 (2019), Case report
V. 170 N. 1 (2019)

A characteristic type of retinal microvascular abnormalities in a patient with Neurofibromatosis type 1: doi: 10.7417/CT.2019.2101

Case report
Pubblicato 2019-01-10
A. Moramarco
Department of Organ of Sense, Sapienza University of Rome, Rome
A. Lambiase
Department of Organ of Sense, Sapienza University of Rome, Rome
F. Mallone
Department of Organ of Sense, Sapienza University of Rome, Rome
E. Miraglia
Department of Dermatology, Sapienza University of Rome, Rome, Italy
S. Giustini
Department of Dermatology, Sapienza University of Rome, Rome, Italy
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Parole chiave

Retina
Microvascular abnormalities
Neurofibromatosis
NIR-OCT
Moya-Moya disease

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.

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