An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome.
CREBBP
Glaucoma
Rubinstein–Taybi syndrome
neonatal glaucoma
Journal
Ophthalmic genetics
ISSN: 1744-5094
Titre abrégé: Ophthalmic Genet
Pays: England
ID NLM: 9436057
Informations de publication
Date de publication:
29 Oct 2024
29 Oct 2024
Historique:
medline:
30
10
2024
pubmed:
30
10
2024
entrez:
29
10
2024
Statut:
aheadofprint
Résumé
To report the occurrence of unilateral, neonatal-onset congenital glaucoma in a child with Rubinstein-Taybi Syndrome (RTS). A 15-day-old male with features of RTS was presented with an enlarged corneal diameter, corneal haze, and peripheral corneal vascularization of the left eye. Ultrasound biomicroscopy of his left eye revealed iris atrophy, iridocorneal adhesions, and iris adhesions to a partially absorbed cataractous lens. Genetic evaluation of the child and the parents revealed a novel de novo heterozygous pathogenic variant in exon 5 of the CREBBP gene (NM_004380.3:c.1390C>T). A diode laser cyclophotocoagulation was performed to control the IOP in the left eye. Unilateral neonatal-onset congenital glaucoma due to iridocorneal adhesions can be a rare presentation of Rubinstein-Taybi Syndrome.
Identifiants
pubmed: 39472112
doi: 10.1080/13816810.2024.2422582
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM