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Congenital ankyloblepharon in a newborn with an IRF6 mutation
Olivia Uddin1, Jamie H Choi1, Erin Causey1
1Department of Ophthalmology and Visual Sciences, University of Maryland School of Medicine, Baltimore, Maryland.
Insights
A genetic mutation in the interferon regulatory factor 6 (IRF6) gene caused ankyloblepharon and other anomalies in a newborn. This case highlights a novel surgical technique for bedside repair of this rare eyelid condition.
Area of Science:
- Medical Genetics
- Ophthalmology
- Pediatric Surgery
Background:
- Ankyloblepharon, a rare congenital disorder, involves eyelid fusion.
- Genetic mutations, particularly in the IRF6 gene, are known causes of syndromic eyelid abnormalities.
- This case involves a full-term infant with multiple congenital anomalies.
Abstract:
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.
