Yılmaz G, Demirci G, Karaman S, Sargolzaeimoghaddam M, Uluçam E S, Sarg A
Department of Ophthalmology, Istanbul Medipol University, Estambul, Turkey.
Department of Ophthalmology, Istanbul Medipol University, Estambul, Turkey.
Arch Soc Esp Oftalmol (Engl Ed). 2025 May;100(5):238-245. doi: 10.1016/j.oftale.2025.01.012. Epub 2025 Jan 31.
BACKGROUND/AIMS: 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 at the 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.
背景/目的：对在XXX大学眼科诊所接受检查的3例威廉姆斯-贝伦综合征（WBS）患者的眼部体征进行特征描述。
3例确诊为WBS的患者在XXX大学眼科接受了全面的眼科评估，包括最佳矫正视力、裂隙灯生物显微镜检查、散瞳眼底检查、光学相干断层扫描、角膜地形图和彩色眼底成像。
所有3例患者最佳矫正视力均下降，在频域光学相干断层扫描检查中，内界膜-视网膜神经纤维层厚度降低，视网膜内层持续存在，中央角膜厚度降低，但上皮厚度测量正常，眼底检查可见视网膜小动脉迂曲。
WBS是一种复杂的多系统遗传性疾病。这些病例中观察到的眼部表现，即角膜厚度降低而上皮厚度正常、内界膜-视网膜色素上皮层厚度降低以及视网膜小动脉迂曲，可能为未来深入了解受7q11.23染色体微缺失影响的全身血管表现提供线索，该染色体在WBS中还包含弹性蛋白基因。
