Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the
BEST1
autosomal recessive bestrophinopathy (ARB)
bestrophin-1
fundus autofluorescence
inherited retinal dystrophy
optical coherence tomography
phenotyping
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
08 Dec 2020
08 Dec 2020
Historique:
received:
24
10
2020
revised:
03
12
2020
accepted:
04
12
2020
entrez:
11
12
2020
pubmed:
12
12
2020
medline:
5
3
2021
Statut:
epublish
Résumé
Autosomal recessive bestrophinopathy (ARB) has been reported as clinically heterogeneous. Eighteen patients (mean age: 22.5 years; 15 unrelated families) underwent ophthalmological examination, fundus photography, fundus autofluorescence, and optical coherence tomography (OCT). Molecular genetic testing of the
Identifiants
pubmed: 33302512
pii: ijms21249353
doi: 10.3390/ijms21249353
pmc: PMC7763028
pii:
doi:
Substances chimiques
BEST1 protein, human
0
Bestrophins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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