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

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Case Reports: Rare disease
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
  1. Sagarika Snehi1,
  2. Anupriya Kaur2,
  3. Chakshu Chaudhry2 and
  4. Sushmita Kaushik1
  1. 1Department of Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
  2. 2Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India
  1. Correspondence to Dr Sushmita Kaushik; sushmita_kaushik{at}yahoo.com

Abstract

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 including a high-arched palate, low-set posteriorly rotated ears, Café-au-lait spots on the back, broad terminal phalanges of hands and feet, and bilateral cryptorchidism. The characteristic dysgenetic angle features and ultrasound biomicroscopic findings described in this case report show the occurrence of concomitant congenital keloid with glaucoma.

Genetic testing revealed a heterozygous one-base pair duplication in exon 3 of the CREBBP gene (c.886dupC), a novel frameshift pathogenic mutation in the CREBBP gene that has not been previously reported in a clinical setting.

  • Eye
  • Paediatrics (drugs and medicines)
  • Genetics

http://dx.doi.org/10.1136/bcr-2022-251543

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    Footnotes

    • Twitter @DrSagarikaSnehi, @KaushikSushmita

    • Contributors SK and SS designed, acquired, and analysed the data, as well as drafted and revised the case report. SK is the guarantor. AK and CC contributed to genetic analysis and drafting the paper.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.