An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1.
Choroidal abnormalities (CAs)
Diagnostic criteria
Hyperpigmented spots (HSs)
Neurofibromatosis type 1 (NF1)
Retinal microvascular abnormalities (RVAs)
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
13 06 2022
13 06 2022
Historique:
received:
26
10
2021
accepted:
29
05
2022
entrez:
13
6
2022
pubmed:
14
6
2022
medline:
16
6
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 35698197
doi: 10.1186/s13023-022-02369-8
pii: 10.1186/s13023-022-02369-8
pmc: PMC9195315
doi:
Types de publication
Letter
Langues
eng
Sous-ensembles de citation
IM
Pagination
223Informations de copyright
© 2022. The Author(s).
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