Purpose: To evaluate patients with lacrimal dysgenesis.
Design: Retrospective, nonrandomized, comparative case series.
Participants: Fifty patients with lacrimal dysgenesis managed between 1992 and 2003. TESTING/INTERVENTION: The diagnosis of lacrimal outflow dysgenesis was made based on the following criteria: absent or hypoplastic punctum, canaliculus, lacrimal sac, and nasolacrimal duct, appearing in isolation or combination. Our management algorithm included observation, punctoplasty with intubation, or open lacrimal surgery, with or without intubation.
Main outcome measure: Success, partial success, or failure of treatment.
Results: Lacrimal dysgenesis in our 50 patients (23 male and 27 female) involved 83 eyes, distributed as follows: proximal in 74 eyes (89%), distal in 27 (33%), and both in 18 (22%). Thirty (60%) patients presented with isolated lacrimal dysgenesis, and 20 (40%) presented with a systemic syndrome or dysmorphism. Thirty-three (66%) patients had bilateral involvement. Epiphora was the most common presenting symptom. Eighteen (36%) patients had a positive family history. Open lacrimal surgery was performed in a total of 29 (35%) of the 83 eyes: 25 had success, 3 had partial success, and 1 had failure.
Conclusion: Both sporadic and hereditary forms of lacrimal outflow dysgenesis may present as an isolated finding or a part of a systemic syndrome or dysmorphism, occurring usually with bilateral involvement and presenting at a younger age in the setting of systemic anomalies. Proximal and distal lacrimal outflow systems may be involved with epiphora as the most common presenting symptom. The algorithm we have presented provides a systematic approach to the management of lacrimal outflow dysgenesis.