Archivos de la Sociedad Espanola de Oftalmologia · 2025
Williams-Beuren syndrome case series with thinner fovea centralis and central corneal thicknesses.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Yılmaz G, Demirci G, Karaman S, Sargolzaeimoghaddam M, Uluçam E S, Sarg A
Аннотация
BACKGROUND/AIMS: To characterize the ocular signs of Williams-Beuren syndrome (WBS) in 3 cases examined at XXX University Ophthalmology Clinic.
METHODS: Three patients with a diagnosis of WBS underwent comprehensive ophthalmic evaluation at the XXX University Ophthalmology, including best-corrected visual acuity, slitlamp biomicroscopy, dilated fundus examination, optical coherence tomography, corneal topography and colour fundus imaging.
RESULTS: 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.
CONCLUSION: 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.
METHODS: Three patients with a diagnosis of WBS underwent comprehensive ophthalmic evaluation at the XXX University Ophthalmology, including best-corrected visual acuity, slitlamp biomicroscopy, dilated fundus examination, optical coherence tomography, corneal topography and colour fundus imaging.
RESULTS: 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.
CONCLUSION: 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.