Congenital ankyloblepharon in a newborn with an IRF6 mutation.

We present the case of a boy born at 41 weeks' gestational age who was found to have multiple anatomic anomalies, including abnormalities of the oral cavity, eyelids, and digits. He had ankyloblepharon that was localized to the lateral portion of the palpebral fissure bilaterally. Genetic testing confirmed a mutation in the interferon regulatory factor 6 (IRF6) gene, a known etiology for a spectrum of rare disorders that includes eyelid abnormalities. We present a novel surgical technique for bedside ankyloblepharon repair and describe the relevant clinical features of this case. Copyright © 2023 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Citation

Olivia Uddin, Jamie H Choi, Erin Causey, Moran R Levin, Janet L Alexander. Congenital ankyloblepharon in a newborn with an IRF6 mutation. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2023 Feb;27(1):55-57

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PMID: 36638957

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