New ophthalmic manifetation of branchio-oculo-facial yndrome

Purpoe To report new ocular manifetation of branchio-oculo-facial (BOF) yndrome. Deign Cae report. Method A 10-year-old girl with known BOF yndrome wa referred becaue of a fundu leion in her left eye. Reult he had undergone exciion of a left orbital dermoid cyt at age 18 month and a branchial cleft fitula from the right ide of neck at age 4 year. Examination dicloed opening of inu tract on each ide of the noe connecting the lacrimal ac to kin. In the right eye, an iri pigment epithelial cyt wa confirmed with ultraound biomicrocopy. In the left eye, there wa a combined hamartoma of the retina and retina pigment epithelium. Concluion BOF yndrome can diplay mild to evere craniofacial, auricular, oral, and ophthalmic anomalie. In thi cae, the ophthalmic manifetation included lacrimal ac fitula, orbital dermoid cyt, iri pigment epithelial cyt, and combined hamartoma of the retina and retinal pigment epithelium.