Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome: Surgical and Medical Management in an Infant with Bilateral Corneal Perforations

    Ruhella R. Hossain, Stephen G J Ng, Cheefoong Chong, Verona E Botha, Robert Ferguson, James McKelvie
    TLDR Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
    This case report details the complex ocular management of a 6-month-old male infant with Ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome over a 2-year period. The patient presented with severe bilateral corneal scarring and exposure keratopathy. Management included multiple surgeries, topical and oral antibiotics, and skin grafts to improve eyelid closure. Despite aggressive treatment, the patient experienced recurrent keratitis and corneal thinning, necessitating further surgical interventions. The report emphasizes the importance of early and aggressive management to preserve vision and limit amblyopia risk, highlighting the utility of intraoperative AS-OCT imaging in guiding treatment. At 24 months, the child had functional vision in one eye and was able to interact with his environment.
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