Mol Vis. 2010 May 8;16:813-8.

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

Al-Dosari MS¹, Almazyad M, Al-Ebdi L, Mohamed JY, Al-Dahmash S, Al-Dhibi H, Al-Kahtani E, Al-Turkmani S, Alkuraya H, Hall BD, Alkuraya FS.

Author information

1: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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.