Lacrimal drainage system involvement in CHARGE syndrome: a two-case report

CHARGE syndrome is a rare multisystem disorder, with ocular colobomas being the most frequent ophthalmic manifestation. Lacrimal drainage system anomalies are distinctly uncommon, with only a handful of cases reported. We describe two children with CHARGE syndrome who presented with bilateral lower punctal agenesis and complex nasolacrimal duct obstruction (NLDO). The first patient had recurrent dacryocystitis and long-standing epiphora; examination revealed bilateral absence of the lower puncta, right NLDO, and partial stenosis of the left nasolacrimal duct. He underwent right external dacryocystorhinostomy and left lacrimal probing with bilateral monocanalicular stenting, resulting in resolution of infection and marked reduction of tearing. The second patient had bilateral bony obstruction; probing revealed a hard stop within the duct that prevented stent placement, and surgery was deferred. These cases expand the limited spectrum of lacrimal anomalies in CHARGE syndrome and highlight the importance of careful lacrimal evaluation and the potential role of CT imaging in guiding management.