Two cases of lacrimal gland agenesis in the same family - Clinicoradiologic findings and management

Background: Lacrimal gland agenesis is extremely rare. This condition is occasionally associated with salivary gland agenesis and abnormalities in the lacrimal drainage system, particularly occlusions of the lacrimal puncta and canaliculi. The detailed presentation of clinicoradiologic findings and treatment modality has not been previously reported. Methods: A 6-year-old boy was presented to our department complaining of severe foreign-body sensations in both eyes. Punctate epithelial erosions and mucous filaments were noted in both eyes. His tear break-up time (TBUT) was less than 1 second, and a Schirmer's test (both eyes) detected less than 1 mm of wetting in 5 minutes. His mother had similar complaints dating back to childhood. Results: Orbital computed tomography (CT) scan and magnetic resonance imaging (MRI) revealed the absence of both lacrimal glands and all major salivary glands. After the insertion of a lacrimal punctal plug, punctate epithelial erosions and mucous filaments decreased remarkably within 2 weeks. MRI scans of the patient's mother confirmed the absence of both lacrimal glands and salivary glands. She had been using artificial tears for a long time. Interpretation: The absence of lacrimal glands can be confirmed by clinicoradiologic findings, and the punctal plug may be an effective tool for the treatment of patients who retain a patent lacrimal drainage system.