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同一家族中三例X连锁青少年视网膜劈裂症的频域光学相干断层扫描结果评估

Assessment of Spectral-Domain Optical Coherence Tomography Findings in Three Cases of X-Linked Juvenile Retinoschisis in the Same Family.

作者信息

Doğuizi Sibel, Şekeroğlu Mehmet Ali, Çolak Salih, Anayol Mustafa Alpaslan, Yılmazbaş Pelin

机构信息

Ulucanlar Eye Training and Research Hospital, Ophthalmology Clinic, Ankara, Turkey.

出版信息

Turk J Ophthalmol. 2017 Oct;47(5):302-305. doi: 10.4274/tjo.09068. Epub 2017 Oct 27.

DOI:10.4274/tjo.09068
PMID:29109902
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5661183/
Abstract

X-linked juvenile retinoschisis (XLRS) is an X-linked hereditary retinal dystrophy characterized by splitting of the neurosensory retina. On fundus examination, the macula often has a spoke wheel appearance with foveal cystic lesions, and separation of the retinal layers is typical on spectral-domain optical coherence tomography (SD-OCT). Patients with XLRS can exhibit different clinical courses, stages, and SD-OCT findings, even among members of the same family. SD-OCT is an important imaging method that allows us to achieve more detailed information about XLRS. In this study, we report three patients in the same family who have different clinical features and SD-OCT findings.

摘要

X连锁青少年视网膜劈裂症（XLRS）是一种X连锁遗传性视网膜营养不良，其特征是神经感觉视网膜劈裂。眼底检查时，黄斑通常呈辐轮状外观，伴有黄斑中心凹囊性病变，在光谱域光学相干断层扫描（SD-OCT）上视网膜层分离是典型表现。即使在同一家族成员中，XLRS患者也可能表现出不同的临床病程、阶段和SD-OCT表现。SD-OCT是一种重要的成像方法，使我们能够获得关于XLRS更详细的信息。在本研究中，我们报告了同一家族中的三名患者，他们具有不同的临床特征和SD-OCT表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f224/5661183/2b8badc3d306/TJO-47-302-g6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f224/5661183/54adac64578e/TJO-47-302-g1.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f224/5661183/2b8badc3d306/TJO-47-302-g6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f224/5661183/54adac64578e/TJO-47-302-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f224/5661183/4fced933d200/TJO-47-302-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f224/5661183/e7a04e2d01e2/TJO-47-302-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f224/5661183/6af676bbde90/TJO-47-302-g4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f224/5661183/501ed212b11a/TJO-47-302-g5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f224/5661183/2b8badc3d306/TJO-47-302-g6.jpg

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本文引用的文献

1
X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family.X 连锁性视网膜炎劈裂：一个中国家系的表型多样性。
Sci Rep. 2016 Jan 29;6:20118. doi: 10.1038/srep20118.
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X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.X 连锁青少年性视网膜劈裂症：临床诊断、基因分析及分子机制。
Prog Retin Eye Res. 2012 May;31(3):195-212. doi: 10.1016/j.preteyeres.2011.12.002. Epub 2012 Jan 3.
3
Effect of aging on macular features of X-linked retinoschisis assessed with optical coherence tomography.
应用光学相干断层扫描评估 X 连锁性视网膜劈裂症的黄斑特征随年龄的变化。
Retina. 2011 Jun;31(6):1186-92. doi: 10.1097/IAE.0b013e3181ff0d2d.
4
Foveomacular schisis in juvenile X-linked retinoschisis: an optical coherence tomography study.青少年性连锁型视网膜劈裂症中的黄斑中心凹劈裂：光学相干断层扫描研究。
Am J Ophthalmol. 2010 Jun;149(6):973-978.e2. doi: 10.1016/j.ajo.2010.01.031. Epub 2010 Apr 28.
5
Macular spectral-domain optical coherence tomography in patients with X linked retinoschisis.X连锁视网膜劈裂症患者的黄斑区光谱域光学相干断层扫描
Br J Ophthalmol. 2009 Mar;93(3):373-8. doi: 10.1136/bjo.2007.136127. Epub 2008 Nov 19.
6
Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.采用傅里叶域光学相干断层扫描评估X连锁视网膜劈裂症患者的视网膜形态学变化。
Arch Ophthalmol. 2008 Jun;126(6):807-11. doi: 10.1001/archopht.126.6.807.
7
Correlation of optical coherence tomography findings with visual acuity and macular lesions in patients with X-linked retinoschisis.X连锁视网膜劈裂症患者光学相干断层扫描结果与视力及黄斑病变的相关性
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8
Optical coherence tomography findings in familial foveal retinoschisis.家族性黄斑视网膜劈裂的光学相干断层扫描结果
Am J Ophthalmol. 2004 Jan;137(1):179-81. doi: 10.1016/s0002-9394(03)00736-0.
9
Positional cloning of the gene associated with X-linked juvenile retinoschisis.与X连锁青少年视网膜劈裂相关基因的定位克隆
Nat Genet. 1997 Oct;17(2):164-70. doi: 10.1038/ng1097-164.
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