Serie de casos del síndrome de Williams-Beuren con disminución de la fóvea central y del espesor corneal central

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia Pub Date : 2025-05-01 DOI:10.1016/j.oftal.2024.11.009

G. Yılmaz , G. Demirci , S. Karaman , M. Sargolzaeimoghaddam , E.S. Uluçam , A. Sarg

{"title":"Serie de casos del síndrome de Williams-Beuren con disminución de la fóvea central y del espesor corneal central","authors":"G. Yılmaz , G. Demirci , S. Karaman , M. Sargolzaeimoghaddam , E.S. Uluçam , A. Sarg","doi":"10.1016/j.oftal.2024.11.009","DOIUrl":null,"url":null,"abstract":"<div><h3>Background/aims</h3><div>To characterize the ocular signs of Williams-Beuren syndrome (WBS) in 3 cases examined at Istanbul Medipol University Ophthalmology Clinic.</div></div><div><h3>Methods</h3><div>Three patients with a diagnosis of WBS underwent comprehensive ophthalmic evaluation at the Istanbul Medipol University Ophthalmology, including best-corrected visual acuity, slit-lamp biomicroscopy, dilated fundus examination, optical coherence tomography, corneal topography and colour fundus imaging.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":8348,"journal":{"name":"Archivos De La Sociedad Espanola De Oftalmologia","volume":"100 5","pages":"Pages 238-245"},"PeriodicalIF":0.0000,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archivos De La Sociedad Espanola De Oftalmologia","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0365669125000085","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

Abstract

Background/aims

To characterize the ocular signs of Williams-Beuren syndrome (WBS) in 3 cases examined at Istanbul Medipol University Ophthalmology Clinic.

Methods

Three patients with a diagnosis of WBS underwent comprehensive ophthalmic evaluation at the Istanbul Medipol University Ophthalmology, including best-corrected visual acuity, slit-lamp 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.

查看原文本刊更多论文

Williams-Beuren综合征中中央斑块和中角膜厚度减少的病例系列

背景/目的分析伊斯坦布尔医科大学眼科诊所3例Williams-Beuren综合征（WBS）的眼部体征。方法对3例确诊为WBS的患者在伊斯坦布尔医科大学眼科进行了全面的眼科检查，包括最佳矫正视力、裂隙灯生物显微镜、眼底扩张检查、光学相干断层扫描、角膜地形图和眼底彩色成像。结果3例患者最佳矫正视力均下降，SD-OCT检查中ILM-RNFL厚度下降，视网膜内层持续存在，角膜中央厚度下降，但上皮厚度测量正常，眼底检查视网膜小动脉弯曲。结论wbs是一种复杂的多系统遗传病。这些病例的眼部表现为角膜厚度减少，上皮厚度正常，ILM-RPE厚度减少，视网膜小动脉扭曲，这可能为WBS中含有弹性蛋白基因的染色体7q11.23微缺失影响全身血管的表现提供未来的见解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Archivos De La Sociedad Espanola De Oftalmologia Medicine-Ophthalmology

CiteScore

1.20

自引率

0.00%

发文量

109

审稿时长

78 days

期刊介绍： La revista Archivos de la Sociedad Española de Oftalmología, editada mensualmente por la propia Sociedad, tiene como objetivo publicar trabajos de investigación básica y clínica como artículos originales; casos clínicos, innovaciones técnicas y correlaciones clinicopatológicas en forma de comunicaciones cortas; editoriales; revisiones; cartas al editor; comentarios de libros; información de eventos; noticias personales y anuncios comerciales, así como trabajos de temas históricos y motivos inconográficos relacionados con la Oftalmología. El título abreviado es Arch Soc Esp Oftalmol, y debe ser utilizado en bibliografías, notas a pie de página y referencias bibliográficas.