Goldenhar syndrome associated with lacrimal system agenesis: A case report.

Am J Ophthalmol Case Rep

Department of Ophthalmology, SUNY Stony Brook University, Renaissance School of Medicine, New York, USA.

Published: March 2023

AI Article Synopsis

  • The case discusses a one-month-old female with Goldenhar syndrome, presenting significant eye issues including coloboma and a corneal ulcer, alongside agenesis of the lacrimal system.
  • Surgery was performed to correct her eyelid issues and remove a dermoid tumor, with successful healing of the corneal ulcer.
  • The report highlights the rarity of lacrimal system agenesis in Goldenhar syndrome, suggesting this as a notable and unique feature of the condition.

Article Abstract

Purpose: To report a case of lacrimal system agenesis in a patient with Goldenhar syndrome.

Observations: A one-month-old female preterm twin with Goldenhar syndrome presented with left upper eyelid coloboma, left central corneal ulcer and inferotemporal epibulbar dermoid. The corneal ulcer was treated and healed to a mild stromal scar. Examination under anesthesia prior to surgery revealed agenesis of the upper and lower eyelids canaliculi. Surgery was performed to correct left upper eyelid coloboma. At a second stage, the epibulbar dermoid was excised and ocular surface was repaired with amniotic membrane graft.

Conclusion And Importance: Goldenhar syndrome is a rare congenital anomaly arising from the abnormal development of the first and second branchial arches. Anomalies of lacrimal drainage system are uncommon in Goldenhar including nasolacrimal duct obstruction and common canalicular obstruction. Agenesis of the lacrimal system has not been described in cases of Goldenhar syndrome. This case represents a unique and uncommonly seen feature.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9761595PMC
http://dx.doi.org/10.1016/j.ajoc.2022.101766DOI Listing

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