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

INTRODUCTION

Coffin-Siris syndrome (CSS) type 1 is a rare genetic disorder characterized by developmental delay, coarse facial features, and hypoplasia of the fifth digit's nail or phalanx, most commonly caused by pathogenic variants in the ARID1B gene.

METHODS

We report the first confirmed case of primary congenital glaucoma in a patient with Coffin-Siris syndrome type 1.

RESULTS

A six-month-old girl was referred for bilateral epiphora and photophobia. Ophthalmological examination revealed megalocornea, right-sided inferior corneal edema, elevated intraocular pressure (IOP), increased axial length, a non-recessed developmental iridocorneal angle, and deep optic nerve cupping, consistent with bilateral infantile primary congenital glaucoma. Genetic testing identified a heterozygous de novo pathogenic frameshift variant in ARID1B. The patient underwent bilateral non-penetrating deep sclerectomy with trabeculotomy, resulting in satisfactory IOP control over 18 months of follow-up.

CONCLUSION

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