Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome.
Abnormalities, Multiple
Child
DNA Mutational Analysis
Facies
Female
Foot Deformities, Congenital
/ diagnosis
Glaucoma
/ diagnosis
Humans
Hypotrichosis
/ diagnosis
Intellectual Disability
/ diagnosis
Intraocular Pressure
Mutation
Phenotype
Retina
/ pathology
Transcription Factors
/ genetics
Visual Acuity
Vitreoretinopathy, Proliferative
/ diagnosis
Vitreous Body
/ pathology
Journal
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
ISSN: 1528-3933
Titre abrégé: J AAPOS
Pays: United States
ID NLM: 9710011
Informations de publication
Date de publication:
06 2019
06 2019
Historique:
received:
17
06
2018
revised:
23
12
2018
accepted:
27
12
2018
pubmed:
2
2
2019
medline:
14
8
2020
entrez:
2
2
2019
Statut:
ppublish
Résumé
We report the case of a 12-year-old girl diagnosed with Nicolaides-Baraitser syndrome with novel ocular features. Diagnosis was based on clinical features, including developmental delay, sparse hair, and craniofacial features along with de novo mutation in SMARCA2. Eye findings included bilateral glaucoma, cataracts, and degenerative vitreoretinopathy. Given the absence of an associated recognizable disorder and the low prevalence of these ocular findings in the general population, we suggest that these ocular features may not be chance association.
Identifiants
pubmed: 30707941
pii: S1091-8531(19)30012-6
doi: 10.1016/j.jaapos.2018.12.002
pii:
doi:
Substances chimiques
SMARCA2 protein, human
0
Transcription Factors
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
169-171Informations de copyright
Copyright © 2019 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.