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与富克斯异色性虹膜睫状体炎相关的C型尼曼-匹克病

Niemann-Pick Disease Type C Associated with Fuchs Heterochromic Iridocyclitis.

作者信息

Kianersi Farzan, Sonbolestan Seyed Ali

机构信息

Department of Ophthalmology, Eye Research Centre, Isfahan University of Medical Sciences, Isfahan, Iran.

出版信息

Adv Biomed Res. 2017 Dec 28;6:168. doi: 10.4103/2277-9175.221859. eCollection 2017.

DOI:10.4103/2277-9175.221859
PMID:29387679
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5767804/
Abstract

In this study, we report a 26-year-old female case of Niemann-Pick disease type C in association with Fuchs heterochromic iridocyclitis who was admitted with the complaint of ocular pain and redness following trauma. She had mild inflammatory signs and also vertical ocular motility limitations.

摘要

在本研究中，我们报告了一例26岁女性，患有C型尼曼-匹克病并伴有富克斯异色性虹膜睫状体炎，因外伤后眼痛和眼红症状入院。她有轻度炎症体征，并且存在垂直眼球运动受限。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/d3a2b7839484/ABR-6-168-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/c75a87a22631/ABR-6-168-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/b7e4c523653e/ABR-6-168-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/c58f36aedd62/ABR-6-168-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/2ee139bded7c/ABR-6-168-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/dd69ae17432b/ABR-6-168-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/2c9e89672e75/ABR-6-168-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/d3a2b7839484/ABR-6-168-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/c75a87a22631/ABR-6-168-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/b7e4c523653e/ABR-6-168-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/c58f36aedd62/ABR-6-168-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/2ee139bded7c/ABR-6-168-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/dd69ae17432b/ABR-6-168-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/2c9e89672e75/ABR-6-168-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab5a/5767804/d3a2b7839484/ABR-6-168-g007.jpg

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1
Niemann-Pick Disease Type C Associated with Fuchs Heterochromic Iridocyclitis.与富克斯异色性虹膜睫状体炎相关的C型尼曼-匹克病
Adv Biomed Res. 2017 Dec 28;6:168. doi: 10.4103/2277-9175.221859. eCollection 2017.
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Fuchs' heterochromic iridocyclitis revisited.再探富克斯异色性虹膜睫状体炎。
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Immunohistochemical analysis of iris biopsy specimens from patients with Fuchs' heterochromic cyclitis.对Fuchs异色性睫状体炎患者的虹膜活检标本进行免疫组织化学分析。
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Doyne lecture. Heterochromic iridocyclitis.多伊内讲座。异色性虹膜睫状体炎。
Trans Ophthalmol Soc U K (1962). 1985;104 ( Pt 3):219-31.

引用本文的文献

1
Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.尼曼-匹克病 C 型患者的垂直性眼球跳动麻痹和中心凹视网膜变薄。
PLoS One. 2021 Jun 4;16(6):e0252825. doi: 10.1371/journal.pone.0252825. eCollection 2021.

本文引用的文献

1
Associations of Fuchs heterochromic iridocyclitis in a South Indian patient population.南印度患者群体中富克斯异色性虹膜睫状体炎的关联
J Ophthalmic Inflamm Infect. 2013 Jan 15;3(1):14. doi: 10.1186/1869-5760-3-14.
2
Usher syndrome associated with Fuchs' heterochromic uveitis.伴 Fuchs 异色性虹膜睫状体炎的先天性耳聋综合征。
Graefes Arch Clin Exp Ophthalmol. 2010 Oct;248(10):1481-5. doi: 10.1007/s00417-010-1429-3. Epub 2010 Jun 24.
3
Recommendations on the diagnosis and management of Niemann-Pick disease type C.尼曼-匹克病C型的诊断与管理建议。
Mol Genet Metab. 2009 Sep-Oct;98(1-2):152-65. doi: 10.1016/j.ymgme.2009.06.008. Epub 2009 Jun 14.
4
The adult form of Niemann-Pick disease type C.成人型C型尼曼-匹克病
Brain. 2007 Jan;130(Pt 1):120-33. doi: 10.1093/brain/awl260. Epub 2006 Sep 26.
5
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.尼曼-匹克C型病：利用变性高效液相色谱法检测NPC1和NPC2基因变异及其对患者和家庭管理的影响
Mol Genet Metab. 2005 Sep-Oct;86(1-2):220-32. doi: 10.1016/j.ymgme.2005.07.007.
6
Niemann-Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology.两名患病姐妹的尼曼-匹克C型病：眼球运动记录与脑干神经病理学
Ann N Y Acad Sci. 2005 Apr;1039:436-45. doi: 10.1196/annals.1325.041.
7
[Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C].[眼球运动异常作为尼曼-匹克病C型诊断的一个体征]
Klin Monbl Augenheilkd. 1999 Jan;214(1):50-2. doi: 10.1055/s-2008-1034748.