Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I

Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I

Abstract Background Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with complete penetrance and variable expressivity. It is caused by mutation in the NF1 gene on chromosome 17 encoding for neu...

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Bibliographic Details
Main Authors: Antonietta Moramarco, Fabiana Mallone, Marta Sacchetti, Luca Lucchino, Emanuele Miraglia, Vincenzo Roberti, Alessandro Lambiase, Sandra Giustini
Format: Article
Language:English
Published: BMC 2021-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Neurofibromatosis Type I (NF1)
Hyperpigmented spots (HSs)
Rare diseases
Choroidal nodules
Ultra-wide field (UWF)
Near-infrared reflectance (NIR) imaging OCT (NIR-OCT)
Online Access:https://doi.org/10.1186/s13023-021-01773-w

Internet

https://doi.org/10.1186/s13023-021-01773-w

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