Isolated Unilateral Congenital Lacrimal Gland Agenesis Presenting as Filamentary Keratopathy in a Child

Abstract

Purpose:: To document for the first time a case of isolated unilateral lacrimal gland agenesis resulting in unilateral filamentary keratopathy in a child.

Methods:: Observational case report.

Results:: A 6-year-old Caucasian boy with no significant medical history presented with unilateral filamentary keratitis. Examination of the right eye was unremarkable. Examination of the left eye revealed significant interpalpebral filamentary keratopathy, a mild papillary conjunctivitis, and markedly decreased aqueous tear production. A rheumatology work-up was performed and all tests including RF, ANA, Lyme, CRP and ESR were negative. Following two weeks of treatment with a topical antihistamine, a mild topical steroid, and frequent preservative free artificial tears to the left eye, moderate improvement was observed. A CT scan of the orbits was performed and revealed absence of the left lacrimal gland and presence of the right lacrimal gland. During a follow-up visit, the boy's father remarked that his son only seemed to cry from his right eye. Permanent punctal occlusion of the left upper and lower lacrimal puncta was performed. This resulted in a significant improvement in the keratopathy.

Conclusions:: Lacrimal gland agenesis should be considered in a child presenting with unilateral dry eye and conjunctival irritation. Congenital lacrimal gland agenesis is extremely rare and there are only a few reported cases in the literature. These cases involve bilateral lacrimal gland agenesis associated, in some instances, with salivary gland agenesis and abnormalities of the lacrimal puncta and canaliculi. This report, to our knowledge, presents the first documented case of isolated unilateral lacrimal gland agenesis resulting in unilateral filamentary keratopathy.

Keywords: lacrimal gland • cornea: epithelium • cornea: tears/tear film/dry eye