Coexistence of congenital lacrimal gland agenesis and congenital aniridia: Case report.

Purpose: To document a rare case of congenital aniridia due to paired box gene 6 (PAX6), elongated protein 4 (ELP4) and fusion gene DKFZp686k1684 mutation with bilateral congenital lacrimal gland agenesis and multiple ocular comorbidities, aiming to expand the understanding of its clinical presentations and therapeutic interventions. Observations: A 10-year-old female presented with severe dry eyes and photophobia, with no tears since birth in both eyes. Diagnosed with sporadic aniridia, previously the patient developed secondary glaucoma requiring multiple surgeries in both eyes. Examination revealed severe dry eyes, foveal hypoplasia, aniridia-associated keratopathy, and was suspicious for absence of lacrimal gland with no palpebral lobe evident on bilateral external inspection. Magnetic resonance imaging revealed lacrimal gland hypoplasia of the right eye and lacrimal gland agenesis of the left eye. Over 10 years, the patients' condition was managed with punctal plugs and artificial tears allowing for stable vision with resolution of bilateral superficial punctate keratitis. Whole genome sequence analysis revealed a large deletion in chromosome 11p13 including the whole PAX6 gene, ELP4 and fusion gene DKFZp686k1684. Conclusion and importance: This case illustrates an association between congenital aniridia and lacrimal gland agenesis. The findings highlight the complexity of genetic influences on ocular development and the importance of early identification and management to prevent complications.