Abstract
Purpose: To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).
Methods: Full ophthalmological evaluation and direct sequencing of TFAP2A.
Results: A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation was identified.
Conclusions: This report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations.