Lacrimal drainage anomalies in Pierre Robin sequence

Area of Science:

• Ophthalmology
• Pediatric Genetics
• Craniofacial Anomalies

Background:

• Pierre Robin sequence (PRS) is characterized by micrognathia, glossoptosis, and airway obstruction.
• Ocular manifestations in PRS commonly include glaucoma, myopia, maculopathy, and retinal detachment.
• Lacrimal drainage anomalies are rarely detailed in PRS literature, with only nasolacrimal duct obstruction previously noted.

Observation:

• This case report details a patient with Pierre Robin sequence presenting with multiple, complex lacrimal drainage anomalies.
• Observed anomalies included supernumerary puncta, canalicular wall hypoplasia, a significantly dilated nasolacrimal duct, and intricate congenital nasolacrimal duct obstruction.
• A large intranasal cyst was also identified as a contributing factor.

Findings:

• The patient underwent successful management utilizing endoscopic-guided probing.
• Marsupialization of the large intranasal cyst was performed concurrently.
• These interventions led to a complete resolution of the patient's epiphora.

Implications:

• This report expands the known spectrum of ocular and lacrimal system involvement in Pierre Robin sequence.
• It highlights the importance of thorough ophthalmic and nasolacrimal system evaluation in PRS patients.
• The successful endoscopic management demonstrates an effective therapeutic approach for complex lacrimal drainage anomalies associated with PRS.