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

A Moramarco; A Lambiase; F Mallone; E Miraglia; S Giustini

doi:10.7417/CT.2019.2101

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

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

Authors

A Moramarco¹, A Lambiase¹, F Mallone¹, E Miraglia², S Giustini²

Affiliations

¹ Department of Organ of Sense, Sapienza University of Rome, Rome.
² Department of Dermatology, Sapienza University of Rome, Rome, Italy.

PMID: 30789191
DOI: 10.7417/CT.2019.2101

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.

Publication types

Case Reports

MeSH terms

Fluorescein Angiography
Hamartoma / diagnostic imaging
Hamartoma / pathology
Humans
Male
Middle Aged
Neurofibromatosis 1 / diagnostic imaging
Neurofibromatosis 1 / pathology*
Retinal Vessels / pathology
Tomography, Optical Coherence