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This abstract is assigned to session SBO-BOG Posters session >> in Poster area - Foyer +1

Title

Ophthalmic and systemic manifestations in three patients with Branchio-Oculo-Facial syndrome

Purpose	To describe the clinical manifestations in three patients, a mother and her two sons, with Branchio-oculo-facia l(BOF) syndrome. The father had undergone early bilateral extractions for congenital cataract.
Methods	A mother and her two sons with BOF syndrome, and their father underwent a comprehensive clinical examination.
Results	The 38-year old mother presented with ocular and branchial abnormalities, cleft lip and hearing loss. The ocular manifestations were bilateral iris and optic nerve colobomata, and cataract. Best-corrected visual acuity (BCVA) was 3/100 in the right eye and 6/10 in the left. An 8-year old son also had ocular and branchial abnormalities (palatal pseudocleft and hearing loss). Ocular manifestations included microphthalmia, bilateral iris and optic nerve colobomata, without cataract. BCVA was 7/100 in the right eye and 3/100 in the left. The 5-year old son had cleft lip and palate, left kidney dysplasia, and no hearing loss. His ocular manifestations included microphthalmia, bilateral cataract, obstructed nasolacrimal ducts, but neither iris nor optic nerve colobomata. BCVA was 2/30 in the RE and 4/24 in the LE. The father is aphakic in both eyes due to cataract extractions in early childhood. His family history is unremarkable.
Conclusion	BOF syndrome is a rare, autosomal dominant cleft-palate-craniofacial disorder with variable expressivity. Only the youngest son underwent several operations of the lacrimal ducts, and will be operated for cataract in both eyes soon. It is unclear whether his cataracts are part of the BOF syndrome or have been inherited from the father.

Author 1

Last name	WALRAEDT
Initials	S
Department	Department of Ophtalmology - Ghent University Hospital
City	Ghent

Author 2

Last name	Leroy
Initials	BP
Department	Department of Ophtalmology / Center for Medical Genetics - Ghent University Hospital
City	Ghent