Aims To study the clinical and diagnostic profile of punctal dysgenesis with membranes, to classify and correlate the membranes clinicopathologically and study the outcomes of membranotomy.

Methods A prospective interventional study involving 55 dysgenetic puncta of 22 consecutive patients seen between July 2008 ansd December 2011. Data collected include demographics, clinical presentation, laterality, age at presentation, duration of symptoms, slit lamp examination, punctal profiles, types of membranes, associated lacrimal anomalies, management and outcomes. All the patients underwent membranotomy, after which the puncta were assessed for adequacy of the opening, the canaliculi were assessed with probes and irrigation was done to assess the patency of the lacrimal system. A minimal follow-up of 6 months was taken for final analysis. Primary outcome measures included were anatomical patency on irrigation and relief from epiphora assessed subjectively and also objectively by a dye disappearance test.

Results The patients included 11 males and 11 females, with a mean age of 82.4 months (range 5–264 months) at presentation. Bilateral punctal involvement was seen in 59% (13/22) and all the four puncta were affected in 31.8% (7/22) of the patients. Epiphora was the most common complaint noted in 95% (21/22), and the symptoms were noticed since birth in 68.1% (15/22). External membranes over the puncta were noted in 86.4% (19/22) and internal punctal membranes in 13.6% (3/22) of patients. All the patients underwent membranotomy, however additional procedures like probing was done in 13.6% (3/22), mini-monoka intubation in 9.1% (2/22), Crawford's bicanalicular intubation in 9.1% (2/22) and dacryocystorhinostomy in 4.5% (1/22). Uniformly, the punctal membranes on histopathological examination were fibrovascular membranes. The anatomical patency was 100% and relief from symptoms was seen in 91% (20/22) of the patients.

Conclusions  This study presents the largest series to date (n=55 puncta) exclusively on punctal dysgenesis with membranes and, for the first time, has shown the clinicopathological correlation of these membranes. Incomplete punctal canalisation is probably a better term and this study could be the starting point for further exploration into the etiopathogenesis and genetics of this intriguing congenital disorder.