What question did this study set out to answer?

This case aims to explore the association between primary congenital glaucoma and Coffin-Siris syndrome type 1 due to an ARID1B mutation.

April 3, 2026Ophthalmic Genetics

Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association

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This case aims to explore the association between primary congenital glaucoma and Coffin-Siris syndrome type 1 due to an ARID1B mutation.
Case report detailing the patient's condition and genetic findings.
Analysis of ocular features associated with Coffin-Siris syndrome.
Review of existing literature on ARID1B mutations and related ocular phenotypes.
Identification of primary congenital glaucoma in a patient with Coffin-Siris syndrome.
Highlighting the necessity for early screening for glaucoma in affected children.
Demonstrating a novel association between ARID1B mutation and eye conditions.

Implication

Case report expands ocular phenotype of Coffin-Siris syndrome, highlighting need for early glaucoma screening.

Abstract

This case expands the ocular phenotype associated with CSS and highlights the importance of early ophthalmologic screening for glaucoma in affected children.

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Cite This Study

Ismedon et al. (2026) studied this question.

synapsesocial.com/papers/69cf588f5a333a821460975a https://doi.org/10.1080/13816810.2026.2652012

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Implication

Case report expands ocular phenotype of Coffin-Siris syndrome, highlighting need for early glaucoma screening.

Abstract

This case expands the ocular phenotype associated with CSS and highlights the importance of early ophthalmologic screening for glaucoma in affected children.

Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association

Key Points

Implication

Abstract

Discussion

Cite This Study

Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association

Key Points

Implication

Abstract

Discussion

Cite This Study

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