Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene.

Abstract excerpt

Rubinstein-Taybi syndrome, also known as broad thumb-hallux syndrome, is a rare autosomal dominant genetic disorder. This multiorgan syndrome is linked to a pathogenic mutation in the CREBBP or EBP300 genes.We present a patient with a hitherto unreported constellation of anterior segment abnormalities, including congenital glaucoma, congenital corneal keloid, cataract, and distinct facial and systemic features...

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