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Eye (Lond). 2016 Dec;30(12):1588-1592. doi: 10.1038/eye.2016.196. Epub 2016 Aug 26.
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A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.一种与眼闭合同源物(EYS)-视网膜色素变性相关的独特表型与 C 末端附近的变异有关。
Am J Ophthalmol. 2018 Jun;190:99-112. doi: 10.1016/j.ajo.2018.03.008. Epub 2018 Mar 14.
5
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.导致常染色体隐性视网膜色素变性的EYS突变:视网膜结构和功能随疾病进展的变化
Genes (Basel). 2017 Jul 12;8(7):178. doi: 10.3390/genes8070178.

本文引用的文献

1
Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort.柱状散点图在呈现日本队列中视网膜色素变性表型方面的有效性。
Transl Vis Sci Technol. 2016 Mar 4;5(2):4. doi: 10.1167/tvst.5.2.4. eCollection 2016 Mar.
2
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.伴有EYS基因突变的色素性视网膜炎是日本人群中最常见的遗传性视网膜营养不良。
J Ophthalmol. 2015;2015:819760. doi: 10.1155/2015/819760. Epub 2015 Jun 16.
3
Rates of decline in regions of the visual field defined by frequency-domain optical coherence tomography in patients with RPGR-mediated X-linked retinitis pigmentosa.在RPGR介导的X连锁视网膜色素变性患者中,通过频域光学相干断层扫描定义的视野区域的下降率。
Ophthalmology. 2015 Apr;122(4):833-9. doi: 10.1016/j.ophtha.2014.11.005. Epub 2014 Dec 31.
4
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.通过下一代测序对大量日本视网膜色素变性和Usher综合征患者进行综合分子诊断。
Invest Ophthalmol Vis Sci. 2014 Oct 16;55(11):7369-75. doi: 10.1167/iovs.14-15458.
5
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.基于外显子组测序,对157个患有视网膜色素变性的家族中60个已知致病基因的突变情况进行研究。
Hum Genet. 2014 Oct;133(10):1255-71. doi: 10.1007/s00439-014-1460-2. Epub 2014 Jun 18.
6
Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa.光谱域光学相干断层扫描测量 X 连锁性视网膜炎色素变性患者的外节层进展。
JAMA Ophthalmol. 2013 Sep;131(9):1143-50. doi: 10.1001/jamaophthalmol.2013.4160.
7
Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.10名EYS基因发生突变的无亲缘关系日本患者的临床表型
Ophthalmic Genet. 2014 Mar;35(1):25-34. doi: 10.3109/13816810.2013.768673. Epub 2013 Feb 20.
8
Method for deriving visual field boundaries from OCT scans of patients with retinitis pigmentosa.从视网膜色素变性患者的光学相干断层扫描(OCT)中推导视野边界的方法。
Biomed Opt Express. 2011 Apr 5;2(5):1106-14. doi: 10.1364/BOE.2.001106.
9
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.西班牙常染色体隐性遗传视网膜色素变性患者 EYS 的突变谱。
Hum Mutat. 2010 Nov;31(11):E1772-800. doi: 10.1002/humu.21334.
10
Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A.叶黄素在接受维生素A治疗的视网膜色素变性患者中的临床试验。
Arch Ophthalmol. 2010 Apr;128(4):403-11. doi: 10.1001/archophthalmol.2010.32.

内节椭圆体带长度是与EYS突变相关的色素性视网膜炎的一个预后因素:视网膜结构的5年观察

Inner segment ellipsoid band length is a prognostic factor in retinitis pigmentosa associated with EYS mutations: 5-year observation of retinal structure.

作者信息

Miyata M, Ogino K, Gotoh N, Morooka S, Hasegawa T, Hata M, Yoshimura N

机构信息

Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.

出版信息

Eye (Lond). 2016 Dec;30(12):1588-1592. doi: 10.1038/eye.2016.196. Epub 2016 Aug 26.

DOI:10.1038/eye.2016.196
PMID:27564720
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5177761/
Abstract

PurposeTo evaluate whether the length of the inner segment ellipsoid (ISe) band can be used as a prognostic factor for disease course in retinitis pigmentosa (RP) patients with EYS mutations by observation over a period of 5 years.MethodsTwelve RP patients with EYS mutations were studied. The horizontal and vertical ISe length of the right eye was manually measured at five time points annually, using spectral domain optical coherence tomography. A regression line through the five points from baseline to the final measurement was drawn and the ratio of the length (%) at each point to the baseline length was calculated; the slope was defined as the rate of ISe shortening (%/year). The correlation between the rate of ISe shortening and age, visual acuity, and mean deviation (MD) value were evaluated. The intraclass correlation coefficient (ICC) for the measurements was calculated.ResultsThe mean rate of ISe shortening was -4.65±2.89% per year and the decline was statistically significant. The rate of shortening was significantly negatively correlated with the baseline length (P=0.046, r=0.58), but not with the baseline age, visual acuity, and MD value. The ICC (2, 1) was 0.999.ConclusionsISe of all RP patients with EYS mutations shortened during the 5 years of annual observation. The measurement of the length of ISe is a simple and convenient method with high repeatability, and the length is a sensitive prognostic factor for the rate of ISe shortening in RP patients with EYS mutations.

摘要

目的

通过5年的观察,评估内节椭圆体(ISe)带的长度是否可作为患有EYS突变的视网膜色素变性(RP)患者疾病进程的预后因素。

方法

研究了12例患有EYS突变的RP患者。每年在五个时间点使用光谱域光学相干断层扫描手动测量右眼的水平和垂直ISe长度。绘制从基线到最终测量的五个点的回归线,并计算每个点的长度(%)与基线长度的比率;斜率定义为ISe缩短率(%/年)。评估ISe缩短率与年龄、视力和平均偏差(MD)值之间的相关性。计算测量的组内相关系数(ICC)。

结果

ISe的平均缩短率为每年-4.65±2.89%,下降具有统计学意义。缩短率与基线长度显著负相关(P=0.046,r=0.58),但与基线年龄、视力和MD值无关。ICC(2,1)为0.999。

结论

在每年观察的5年期间,所有患有EYS突变的RP患者的ISe均缩短。ISe长度的测量是一种简单方便且重复性高的方法,并且该长度是患有EYS突变的RP患者ISe缩短率的敏感预后因素。