COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective.
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:
08 2019
08 2019
Historique:
received:
28
08
2018
revised:
19
04
2019
accepted:
24
04
2019
pubmed:
28
5
2019
medline:
9
10
2020
entrez:
26
5
2019
Statut:
ppublish
Résumé
COL4A1 mutations present with a spectrum of clinical phenotypes often involving the cerebrovascular and ophthalmic systems. We report 2 cases of COL4A1 mutations that presented with congenital cataracts and porencephaly. Both patients had posterior cortical cataracts and radiographically defined bilateral posterior lenticonus. Considering the long-term clinical implications of these mutations, posterior cortical cataracts, bilateral posterior lenticonus, and porencephaly should raise clinical suspicion for COL4A1 mutations.
Identifiants
pubmed: 31128271
pii: S1091-8531(19)30121-1
doi: 10.1016/j.jaapos.2019.04.003
pii:
doi:
Substances chimiques
COL4A1 protein, human
0
Collagen Type IV
0
DNA
9007-49-2
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
246-248Commentaires et corrections
Type : CommentIn
Type : CommentIn
Informations de copyright
Copyright © 2019 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.