An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1

• Published in: Orphanet journal of rare diseases Vol. 17; no. 1; p. 223
• Main Authors: Mallone, Fabiana, Lucchino, Luca, Giustini, Sandra, Lambiase, Alessandro, Moramarco, Antonietta
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 13-06-2022; BioMed Central; BMC
• Subjects: Choroidal abnormalities (CAs); Complications and side effects; Diagnosis; Diagnostic criteria; Eyelid; Hyperpigmented spots (HSs); Letter to the Editor; Medical imaging; Medical research; Microvasculature; Nervous system; Neurofibromatosis; Neurofibromatosis type 1 (NF1); Patients; Rare diseases; Recklinghausen's disease; Retina; Retinal diseases; Retinal microvascular abnormalities (RVAs); Risk factors; Tomography; Italy; Hyperpigmented spots (HSs); Retinal microvascular abnormalities (RVAs); Diagnostic criteria; Choroidal abnormalities (CAs); Neurofibromatosis type 1 (NF1)
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-022-02369-8

Neurofibromatosis Type 1 (NF1) is a rare neurocutaneous disorder transmitted in an autosomal dominant fashion, mainly affecting the nervous system, the eye and skin. Ocular diagnostic hallmarks of NF1 include iris Lisch nodules, optic gliomas, orbital and eyelid neurofibromas, eyelid café-au-lait spots. In recent years, a new ocular sign represented by choroidal abnormalities (CAs) has been characterized in NF1. The CAs, identified with near-infrared reflectance, have been reported with a frequency of up to 100% in NF1, and have recently been added to the actual diagnostic criteria for NF1. The present Letter to the journal is intended to provide an update on features and clinical significance of CAs in NF1. Moreover, the relation with other ocular manifestations recently described in NF1 including hyperpigmented spots and retinal microvascular abnormalities is discussed.