New ophthalmic manifestations of branchio-oculo-facial syndrome.

PURPOSE: To report new ocular manifestations of branchio-oculo-facial (BOF) syndrome.

DESIGN

Case report.

METHODS

A 10-year-old girl with known BOF syndrome was referred because of a fundus lesion in her left eye.

RESULTS

She had undergone excision of a left orbital dermoid cyst at age 18 months and a branchial cleft fistula from the right side of neck at age 4 years. Examination disclosed openings of sinus tracts on each side of the nose connecting the lacrimal sac to skin. In the right eye, an iris pigment epithelial cyst was confirmed with ultrasound biomicroscopy. In the left eye, there was a combined hamartoma of the retina and retina pigment epithelium.

CONCLUSION

BOF syndrome can display mild to severe craniofacial, auricular, oral, and ophthalmic anomalies. In this case, the ophthalmic manifestations included lacrimal sac fistula, orbital dermoid cyst, iris pigment epithelial cyst, and combined hamartoma of the retina and retinal pigment epithelium.