EN
登录

I型戈谢病的玻璃体混浊和视网膜沉积

Vitreous opacities and retinal deposits in Gaucher disease type I

Nature 等信源发布 2024-12-10 01:25

可切换为仅中文


Access through your institution

通过您的机构访问

Buy or subscribe

购买或订阅

The patient underwent vitrectomy to remove the vitreous/retinal lesions in the left eye. During the one-week follow-up, symptoms had resolved significantly. Her BCVA improved to 20/25 OS.Gaucher disease is a rare, autosomal recessive genetic disorder, resulting in an accumulation of sphingolipid glucosylceramid in the various reticuloendothelial systems including the liver, bone, brain, and eye [1, 2].

该患者接受了玻璃体切除术以去除左眼的玻璃体/视网膜病变。在一周的随访中,症状明显缓解。她的BCVA提高到20/25 OS。高雪氏病是一种罕见的常染色体隐性遗传疾病,导致鞘脂葡糖神经酰胺在包括肝脏,骨骼,大脑和眼睛在内的各种网状内皮系统中积累[1,2]。

Vitrectomy is effective for resolving vitreoretinal lesions and improving visual outcomes [3]. Patients should be screened by a multidisciplinary team including haematologists, ophthalmologists, neurologists, and oncologists..

玻璃体切除术可有效解决玻璃体视网膜病变并改善视力结果(3)。患者应由包括血液学家、眼科医生、神经科医生和肿瘤学家在内的多学科团队进行筛查。。

This is a preview of subscription content, access via your institution

这是订阅内容的预览,可通过您的机构访问

Access options

访问选项

Access through your institution

通过您的机构访问

Access through your institution

通过您的机构访问

Change institution

变革机构

Buy or subscribe

购买或订阅

Subscribe to this journal

订阅此日记

Receive 18 print issues and online access

接收18个打印问题和在线访问

251,40 € per year

每年251,40欧元

only 13,97 € per issue

每期仅13.97欧元

Learn more

了解更多信息

Buy this article

购买这篇文章

Purchase on SpringerLink

在SpringerLink上购买

Instant access to full article PDF

即时访问全文PDF

Buy now

立即购买

Prices may be subject to local taxes which are calculated during checkout

价格可能需要缴纳结帐时计算的地方税

Additional access options:

其他访问选项:

Log in

登录

Learn about institutional subscriptions

了解机构订阅

Read our FAQs

阅读我们的常见问题

Contact customer support

联系客户支持

Fig. 1: The fundus photographs in a 30-year-old woman diagnosed with Gaucher disease type I.

图1:一名被诊断患有I型高雪氏病的30岁女性的眼底照片。

Data availability

数据可用性

The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.

本研究中使用和/或分析的数据集可根据合理要求从通讯作者处获得。

ReferencesGrabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008;372:1263–71.Article

参考文献Grabowski GA.高雪氏病的表型,诊断和治疗。柳叶刀。;372:1263–71.文章

PubMed

PubMed

Google Scholar

谷歌学者

Winter AW, Salimi A, Ospina LH, Roos JCP. Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder. Br J Ophthalmol. 2019;103:315–26.Article

Winter AW,Salimi A,Ospina LH,Roos JCP。高雪氏病的眼科表现:最常见的溶酶体贮积病。Br J眼科。2019年;103:315–26.文章

PubMed

PubMed

Google Scholar

谷歌学者

Eghbali A, Hassan S, Seehra G, FitzGibbon E, Sidransky E. Ophthalmological findings in Gaucher disease. Mol Genet Metab. 2019;127:23–7.Article

Eghbali A,Hassan S,Seehra G,FitzGibbon E,Sidransky E.高雪氏病的眼科发现。摩尔基因代谢。2019年;127:23–7.文章

PubMed

PubMed

Google Scholar

谷歌学者

Download referencesAuthor informationAuthors and AffiliationsDepartment of Ophthalmology, Nanjing Lishui People’s Hospital, Zhongda Hospital Lishui Branch, Southeast University, Nanjing, Jiangsu, ChinaBangtao YaoDepartment of Ophthalmology, Jiangsu Province Hospital, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, ChinaYan Yu & Yuhua DingAuthorsBangtao YaoView author publicationsYou can also search for this author in.

下载参考文献作者信息作者和所属机构南京溧水市人民医院眼科,东南大学中大医院溧水分院,江苏南京,中国杨涛姚江苏省医院眼科,南京医科大学第一附属医院,江苏南京,中国杨宇和丁玉华作者杨涛姚查看作者出版物您也可以在中搜索作者。

PubMed Google ScholarYan YuView author publicationsYou can also search for this author in

PubMed Google ScholarYan YuView作者出版物您也可以在

PubMed Google ScholarYuhua DingView author publicationsYou can also search for this author in

PubMed Google ScholarYuhua DingView作者出版物您也可以在

PubMed Google ScholarContributionsBangtao Yao wrote the manuscript and reviewed the manuscript; Yan Yu edited the manuscript; Yuhua Ding dealt with the figures and established the diagnosis. All authors read and approved the final manuscript.Corresponding authorsCorrespondence to.

PubMed谷歌学术贡献姚邦涛撰写了手稿并审阅了手稿;严宇编辑了手稿;丁玉华处理了这些数字并确定了诊断。所有作者都阅读并批准了最终稿件。通讯作者通讯。

Bangtao Yao or Yuhua Ding.Ethics declarations

棒桃药或余华丁。道德宣言

Competing interests

相互竞争的利益

The authors declare no competing interests.

作者声明没有利益冲突。

Consent to participate

同意参与

Informed consent was obtained from the patient for publication of this case report and any accompanying images.

Additional informationPublisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.Rights and permissionsReprints and permissionsAbout this articleCite this articleYao, B., Yu, Y. & Ding, Y. Vitreous opacities and retinal deposits in Gaucher disease type I..

Additional informationPublisher的注释Springer Nature在已发布的地图和机构隶属关系中的管辖权主张方面保持中立。权利和许可打印和许可本文引用本文Yao,B.,Yu,Y。&Ding,Y。I型高雪氏病的玻璃体混浊和视网膜沉积物。。

Eye (2024). https://doi.org/10.1038/s41433-024-03509-zDownload citationReceived: 01 November 2024Revised: 06 November 2024Accepted: 21 November 2024Published: 10 December 2024DOI: https://doi.org/10.1038/s41433-024-03509-zShare this articleAnyone you share the following link with will be able to read this content:Get shareable linkSorry, a shareable link is not currently available for this article.Copy to clipboard.

眼睛(2024)。https://doi.org/10.1038/s41433-024-03509-zDownload引文接收日期:2024年11月1日修订日期:2024年11月6日接受日期:2024年11月21日发布日期:2024年12月10日OI:https://doi.org/10.1038/s41433-024-03509-zShare本文与您共享以下链接的任何人都可以阅读此内容:获取可共享链接对不起,本文目前没有可共享的链接。复制到剪贴板。

Provided by the Springer Nature SharedIt content-sharing initiative

由Springer Nature SharedIt内容共享计划提供