Characteristics of ocular findings of patients with neuronal intranuclear inclusion disease.
In vivo corneal confocal microscopy
NOTCH2NLC gene
Neuronal intranuclear inclusion disease
Ocular characteristics
Retinal abnormalities
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
May 2022
May 2022
Historique:
received:
02
10
2021
accepted:
12
11
2021
pubmed:
20
11
2021
medline:
22
4
2022
entrez:
19
11
2021
Statut:
ppublish
Résumé
This study aimed to explore the ocular characteristics of neuronal intranuclear inclusion disease (NIID), caused by GGC repeat expansion in the NOTCH2NLC gene, combined with the systemic clinical manifestations, and propose early diagnostic features of NIID. Six patients (12 eyes) were enrolled in this study. In vivo corneal confocal microscopy (IVCCM), fundus photography, fundus autofluorescence (FAF) imaging, optical coherence tomography (OCT), full-field electroretinography (ERG), and electromyography were performed. The average corneal nerve fiber density (CNFD) was 6.83 ± 4.96 number/mm The findings of IVCCM and retinal changes should be included in the diagnostic criteria for NIID. Corneal confocal characteristics may precede the systemic neurological manifestations and provide a clinical basis for the early treatment and staging of the disease. ClincalTrials.gov. Identifier: ChiCTR21000500227.
Identifiants
pubmed: 34797461
doi: 10.1007/s10072-021-05748-4
pii: 10.1007/s10072-021-05748-4
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3231-3237Subventions
Organisme : National Natural Science Foundation of China
ID : 81973910
Organisme : Shanghai Municipal Health Bureau
ID : 20194Y0290
Informations de copyright
© 2021. Fondazione Società Italiana di Neurologia.
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