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Deze abstract is toegekend aan sessie SBO-BOG Posters session >> in Poster area - Foyer +1
TitelOphthalmic and systemic manifestations in three patients with Branchio-Oculo-Facial syndrome
DoelTo 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.
MethodesA mother and her two sons with BOF syndrome, and their father underwent a comprehensive clinical examination.
ResultatenThe 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.
ConclusieBOF 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.
Auteur 1
NaamWALRAEDT
InitialenS
InstituutDepartment of Ophtalmology - Ghent University Hospital
StadGhent
Auteur 2
NaamLeroy
InitialenBP
InstituutDepartment of Ophtalmology / Center for Medical Genetics - Ghent University Hospital
StadGhent
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