Lacrimal Puncta Agenesis in Kabuki Syndrome.

ABSTRACT

Kabuki syndrome (KS) is a rare congenital disorder characterized by multiple systemic anomalies and facial characteristics. Here, the authors present the first case, to the best of the authors' knowledge, of bilateral lacrimal puncta agenesis in a patient with KS.#8232;The proband patient was a 29-year-old woman diagnosed with this syndrome, brought to our office due to recurrent conjunctivitis where agenesia of lacrimal puncta was observed. Therapeutic options were exposed but, as the concomitant medication (topiramate) produced ocular dryness, conservative treatment was decided. Diagnosis of KS is challenging because it is a complex syndrome with many associated findings. The authors recommend taking into account the agenesis of lacrimal points in the differential diagnosis of KS if it is associated with other phenotypic alterations as well as including lacrimal examination in patients with KS diagnosis. The authors emphasize the importance of individualizing treatment since drugs used for the systematic management of these patients can influence tear symptoms.