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Ocular anomalies in the branchio-oculo-facial syndrome
C S Su1, S B O'Hagen, T J Sullivan
1Oculoplastic and Lacrimal Unit, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia. cens@c031.aone.net.au
Australian and New Zealand Journal of Ophthalmology
|April 2, 1998
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.