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孔源性视网膜脱离的分子遗传学

Molecular genetics of rhegmatogenous retinal detachment.

作者信息

Richards A J, Scott J D, Snead M P

机构信息

Department of Pathology University of Cambridge Cambridge, UK.

出版信息

Eye (Lond). 2002 Jul;16(4):388-92. doi: 10.1038/sj.eye.6700195.

DOI:10.1038/sj.eye.6700195
PMID:12101445
Abstract

Rhegmatogenous retinal detachment (RRD) most commonly occurs as a spontaneous event resulting from posterior vitreous detachment, typically between the ages of 40-70 yrs. It is also a feature in some inherited disorders, most commonly Stickler syndrome. The relationship between these inherited disorders and the spontaneous cases is unclear. Here in particular we review Stickler syndrome, and discuss the differential diagnosis of Stickler, Wagner and Marshall syndromes. Other rare inherited disorders associated with RRD are also briefly reviewed.

摘要

孔源性视网膜脱离(RRD)最常见的是作为一种由玻璃体后脱离引起的自发事件,通常发生在40至70岁之间。它也是一些遗传性疾病的特征,最常见的是Stickler综合征。这些遗传性疾病与自发病例之间的关系尚不清楚。在此,我们特别回顾Stickler综合征,并讨论Stickler、Wagner和Marshall综合征的鉴别诊断。还简要回顾了与RRD相关的其他罕见遗传性疾病。

相似文献

1
Molecular genetics of rhegmatogenous retinal detachment.孔源性视网膜脱离的分子遗传学
Eye (Lond). 2002 Jul;16(4):388-92. doi: 10.1038/sj.eye.6700195.
2
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Stickler syndrome: clinical care and molecular genetics.斯蒂克勒综合征:临床护理与分子遗传学
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[Stickler syndrome with rhegmatogenous retinal detachment].[伴有孔源性视网膜脱离的斯蒂克勒综合征]
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Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globe.1型斯蒂克勒综合征:未治疗眼球的组织学和超微结构研究
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引用本文的文献

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Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.韩国斯蒂克勒综合征患者的遗传特征和表型:韩国多中心分析报告第 1 号。
Genes (Basel). 2021 Oct 5;12(10):1578. doi: 10.3390/genes12101578.
2
Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.蒙古家系首例 COL2A1 变异致 Stickler 综合征的分子诊断病例报告。
Mol Genet Genomic Med. 2021 Oct;9(10):e1781. doi: 10.1002/mgg3.1781. Epub 2021 Aug 18.
3
Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.
《东亚人群 1 型黏多糖贮积症的突变谱及基因型-表型分析:系统综述》
BMC Med Genet. 2020 Feb 10;21(1):27. doi: 10.1186/s12881-020-0963-z.
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Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.骨形态发生蛋白 4(BMP4)功能丧失变体与常染色体显性遗传的 Stickler 综合征和肾发育不良相关。
Eur J Hum Genet. 2019 Mar;27(3):369-377. doi: 10.1038/s41431-018-0316-y. Epub 2018 Dec 19.
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Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome.一名患有斯蒂克勒综合征患者的双侧非对称性孔源性视网膜脱离
Turk J Ophthalmol. 2018 Apr;48(2):95-98. doi: 10.4274/tjo.60430. Epub 2018 Apr 25.
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BMC Ophthalmol. 2017 Nov 25;17(1):214. doi: 10.1186/s12886-017-0615-z.
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Clin Ophthalmol. 2016 Aug 16;10:1531-4. doi: 10.2147/OPTH.S111526. eCollection 2016.
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