Abstract
To characterize the ocular signs of Williams-Beuren syndrome (WBS) in 3 cases examined at XXX University Ophthalmology Clinic. Three patients with a diagnosis of WBS underwent comprehensive ophthalmic evaluation atthe XXX University Ophthalmology, including best-corrected visual acuity, slitlamp biomicroscopy, dilated fundus examination, optical coherence tomography, corneal topography and colour fundus imaging. All 3 cases had decreased best corrected visual acuity, decreased ILM-RNFL thicknesses with a persistence of inner retinal layers on the SD-OCT examinations, decreased central corneal thickness yet normal epithelial thickness measurements and retinal arteriolar tortuosity in fundus examination. WBS is a complex multisystem genetic disorder. The ocular findings observed in these cases which are decreased corneal thickness with normal epithelial thickness, decreased ILM-RPE thicknesses, and retinal arteriolar tortuosity may provide future insight into systemic vascular findings affected by a microdeletion of chromosome 7q11.23 which also contains elastin gene in WBS.
Published Version
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