Ocular anomalies in the branchio-oculo-facial syndrome.

Abstract

Purpose: To describe the ocular anomalies in two cases of branchio-oculo-facial syndrome (BOFS).

Methods: Two cases of BOFS are reviewed.

Results/conclusions: Branchio-oculo-facial syndrome is a rare branchial cleft syndrome that is characterized by a typical facial appearance of pseudo-cleft or cleft lip, subauricular branchial sinuses, deafness and ocular anomalies, which include nasolacrimal obstruction, telecanthus and colobomata. It has an autosomal dominant inheritance pattern.