Canalicular wall dysgenesis: the clinical profile of canalicular hypoplasia and aplasia, associated systemic and lacrimal anomalies, and clinical implications.

PURPOSE: To report the clinical and diagnostic profile of canalicular wall dysgenesis (CWD), associated systemic and lacrimal anomalies and to propose its classification.

METHODS

Prospective interventional study involving 7 dysgenetic canaliculi of 7 consecutive patients seen between June 2010 and July 2012. Data collected include demographics, clinical presentation, laterality, age at presentation, duration of symptoms, slit-lamp examination, punctal profiles, types of canalicular dysgenesis, wall involvement details, associated systemic and lacrimal anomalies, family history, and management modalities. CWD and its components were defined along with their clinical features.

RESULTS

The patients included were 5 men and 2 women, with a mean age of 5.8 years (range 2-12 years) at presentation. All patients had unilateral and single canalicular involvement. Epiphora was the most common complaint noted in all the patients, and the symptoms were noticed since birth in 85.7% (6/7). The right eye was involved in 85.7% (6/7) and lower canaliculi were involved in 57.1% (4/7) of the cases. Isolated single wall dysgenesis involving only the roof was noted in 71.4% (5/7), with hypoplasia being the common form seen in 57.1% (4/7). Associated lacrimal anomalies were seen in all and systemic anomalies were noted in 28.5% (2/7) of the patients.

CONCLUSIONS

This study exclusively describes the clinical profile of CWD and proposes a classification. Single or multiple canalicular wall hypoplasia and aplasia are probably better terms to use, and this study could be the beginning for further investigations into the embryogenesis and genetics of this intriguing congenital disorder.