Williams-Beuren syndrome case series with thinner fovea centralis and central corneal thicknesses.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: G Demirci, S Karaman, A Sarg, M Sargolzaeimoghaddam, E S Uluçam, G Yılmaz

Ngôn ngữ: eng

Ký hiệu phân loại: 297.1248 Sources of Islam

Thông tin xuất bản: Spain : Archivos de la Sociedad Espanola de Oftalmologia , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 62542

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.
Tạo bộ sưu tập với mã QR

THƯ VIỆN - TRƯỜNG ĐẠI HỌC CÔNG NGHỆ TP.HCM

ĐT: (028) 36225755 | Email: tt.thuvien@hutech.edu.vn

Copyright @2024 THƯ VIỆN HUTECH