Gene

Biology

Ophthalmology

Mutation

Dermatology

Genetics

Medicine

PubMed

To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).Full ophthalmological evaluation and direct sequencing of TFAP2A.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.This report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations.

Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.