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

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• CHARGE syndrome is a rare genetic disorder affecting multiple systems.
• Ocular colobomas are common, but lacrimal drainage system anomalies are infrequent.
• Nasolacrimal duct obstruction (NLDO) is a rare complication in CHARGE syndrome.

Purpose of the Study:

• To describe two pediatric cases of CHARGE syndrome with bilateral lower punctal agenesis and complex NLDO.
• To highlight the diagnostic and management challenges of lacrimal anomalies in CHARGE syndrome.
• To expand the understanding of the spectrum of lacrimal abnormalities in CHARGE syndrome.

Main Methods:

• Case report of two children diagnosed with CHARGE syndrome.
• Clinical examination focusing on ocular and lacrimal system assessment.
• Surgical interventions including dacryocystorhinostomy, lacrimal probing, and stenting.
• Consideration of CT imaging for complex obstructions.

Main Results:

• Both patients presented with bilateral lower punctal agenesis and NLDO.
• The first patient underwent successful surgical management with resolution of symptoms.
• The second patient had a bony obstruction precluding stent placement, with surgery deferred.
• These cases illustrate diverse presentations and management considerations.

Conclusions:

• Lacrimal drainage system anomalies, such as punctal agenesis and NLDO, are uncommon but significant manifestations in CHARGE syndrome.
• Thorough lacrimal evaluation is crucial for patients with CHARGE syndrome.
• CT imaging may aid in evaluating complex nasolacrimal duct obstructions in these patients.