A 13 day old baby boy presented to us last month with a right eyelid coloboma as a part of #Goldenhar syndrome. Unfortunately the large eyelid coloboma at birth made the right eye susceptible to exposure keratitis leading to a large corneal abscess on the verge of a corneal perforation.
The photos above show the baby at birth, at presentation and finally 2 weeks post surgery.
Goldenhar syndrome is characterized by craniofacial anomalies in association with spine, heart, kidneys and brain deficits. Goldenhar Syndrome is usually accompanied by a triad of anomalies comprising epibulbar dermoid, accessory auricular appendages, and aural fistula. The eye manifestations can be microphthalmia, epibulbar or limbal dermoids, lipodermoids, and coloboma. Coloboma can present with eyelid coloboma, iris coloboma or choroidal coloboma, a combination of the three or all three. Eyelid colobomas part of goldenhar syndrome is usually in the upper eyelid, resulting incomplete closure resulting in exposure keratopathy which can then turn into a corneal ulcer as in our case.
Thanks to our excellent Neonatology and Anaesthesia teams we could mobilise the small baby weighing less than 2kilos to the operating table within 24 hours of presentation. I could reconstruct the right upper eyelid using a rotational flap and enough of the conjunctiva was present to be mobilised into the reconstruction.
Post surgery, with good closure of the eye and with extensive topical antibiotic treatment of the corneal ulcer by our cornea specialist, the corneal abscess started healing, reduced in size and finally became a residual central corneal scar. The baby is awaiting a corneal transplant as soon as we can get a good quality cornea in our eye bank.
So happy to see a good outcome for this baby! Hope he is lucky enough to be able to see from that eye soon.
DR. RAGHURAJ HEGDE 