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
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

Pagination

1-5

Auteurs

Brajesh Lahri (B)

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Renu Singh (R)

Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.

Shikha Gupta (S)

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Arnav Panigrahi (A)

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Neerja Gupta (N)

Department of Paediatrics, Genetics Division, All India Institute of Medical Sciences, New Delhi, India.

Shama Perveen (S)

Department of Paediatrics, Genetics Division, All India Institute of Medical Sciences, New Delhi, India.

Arundhati Sharma (A)

Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.

Viney Gupta (V)

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Classifications MeSH