Double Lacrimal Puncta in a Case of Coffin-Siris Syndrome

A 5-year-old female presented with a complaint of watering in her left eye without any discharge. She presented with a known diagnosis of Coffin-Siris syndrome with heterozygous nonsense variation in exon 20 of the ARID1B gene (chromosome 6). General examination showed moderate hypotonia, developmental delays, intellectual disability, coarse facial features (Panel A), and myopia. On ophthalmic examination, there was double lacrimal puncta in the left lower eyelid (Panel B), while the remaining puncta were normal. Fluorescein dye disappearance test was grade 2 in the left eye, and the lacrimal sac irrigation was patent. The congenital double puncta were most likely impairing the lacrimal pump, thereby causing tearing. The patient was reassured and was advised to be under regular follow-up. Coffin-Siris syndrome is a rare autosomal dominant genetic disorder (most commonly affecteing ARID1B gene) characterized by developmental delays, intellectual disability, physical anomalies, and potential heart and kidney defects. The reported ophthalmic associations include ptosis, strabismus, myopia, nystagmus, cataracts, microcornea, glaucoma, anisomyopia, and macular dysplasia. To the best of the authors’ knowledge, this is the first reported case of congenital double puncta in a case of Coffin-Siris syndrome.FIG.: