一名患有CEP290突变的Joubert综合征患者的类Coats渗出性视网膜病变：病例报告 - Suppr

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Coats-like Exudative Retinopathy in a Patient with Joubert Syndrome with CEP290 Mutation: A Case Report.

作者信息

Goh Yong Hyu, Hwang Sungsoon, Kim Sang Jin

机构信息

Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

出版信息

Korean J Ophthalmol. 2024 Oct;38(5):424-426. doi: 10.3341/kjo.2024.0028. Epub 2024 Aug 16.

DOI:10.3341/kjo.2024.0028

PMID:39155132

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11491796/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/179b/11491796/9eaccaa585e9/kjo-2024-0028f1.jpg

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本文引用的文献

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.遗传性视网膜疾病中的 Coats 样血管病变：患病率、特征、遗传学及治疗。

Ophthalmology. 2023 Dec;130(12):1327-1335. doi: 10.1016/j.ophtha.2023.07.027. Epub 2023 Aug 5.

Review of Ocular Manifestations of Joubert Syndrome.乔伯特综合征的眼部表现综述

Genes (Basel). 2018 Dec 4;9(12):605. doi: 10.3390/genes9120605.

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.巨脑回畸形综合征：99 例患者的眼科检查结果与基因型及肝肾功能的相关性分析，该研究为单中心前瞻性研究。

Ophthalmology. 2018 Dec;125(12):1937-1952. doi: 10.1016/j.ophtha.2018.05.026. Epub 2018 Jul 25.

Coats-like retinopathy in Joubert syndrome.乔布综合征中的类科茨病视网膜病变。

J AAPOS. 2016 Aug;20(4):372-4. doi: 10.1016/j.jaapos.2016.03.018. Epub 2016 Jul 1.

Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.家族性小脑蚓部发育不全。一种发作性呼吸急促、异常眼球运动、共济失调和智力迟钝的综合征。

Neurology. 1969 Sep;19(9):813-25. doi: 10.1212/wnl.19.9.813.

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