Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.
Margaux Ismedon, Vasily Smirnov, Aurelie Hamerstehl et al.
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Case in brief
A six-month-old girl with Coffin-Siris syndrome type 1 presented with tearing from both eyes and light sensitivity. Examination showed megalocornea, right inferior corneal edema, elevated intraocular pressure, increased axial length, a non-recessed developmental iridocorneal angle, and deep optic nerve cupping, supporting bilateral infantile primary congenital glaucoma. Genetic testing found a heterozygous de novo pathogenic frameshift variant in ARID1B. After bilateral non-penetrating deep sclerectomy with trabeculotomy, intraocular pressure control was satisfactory during 18 months of follow-up.
What made this case unusual
The report describes primary congenital glaucoma in a child with ARID1B-related Coffin-Siris syndrome type 1, extending the syndrome’s reported ocular phenotype.
Diagnostic / clinical pearl
In an infant with Coffin-Siris syndrome type 1, tearing or photophobia warrants ophthalmologic assessment; glaucoma may be identified through pressure, corneal, axial-length, angle, and optic-nerve findings.
Why it matters
The authors highlight early ophthalmologic screening for glaucoma in children with Coffin-Siris syndrome.