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线粒体细胞病及劳伦斯-穆恩-比德尔综合征的组织病理学

Histopathology of mitochondrial cytopathy and the Laurence-Moon-Biedl syndrome.

作者信息

Runge P, Calver D, Marshall J, Taylor D

出版信息

Br J Ophthalmol. 1986 Oct;70(10):782-96. doi: 10.1136/bjo.70.10.782.

DOI:10.1136/bjo.70.10.782
PMID:3778863
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1040828/
Abstract

Clinical and histopathological studies of two patients with distinctly different inherited juvenile retinal dystrophies indicate that the ocular defect in mitochondrial cytopathy involves the underlying pigment epithelium, whereas in the Laurence-Moon-Biedl syndrome the photoreceptor cells are primarily affected.

摘要

对两名患有明显不同遗传性青少年视网膜营养不良症患者的临床和组织病理学研究表明，线粒体细胞病中的眼部缺陷累及深层色素上皮，而在劳伦斯-穆恩-比德尔综合征中，主要受影响的是光感受器细胞。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/1828f7ab8830/brjopthal00130-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/ad10504c22d4/brjopthal00130-0067-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/19c80245599c/brjopthal00130-0067-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/2178bd0d1fd3/brjopthal00130-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/6f795037e451/brjopthal00130-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/6d7f3542bae1/brjopthal00130-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/23dd985c1b95/brjopthal00130-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/1e1068ed7c05/brjopthal00130-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/1828f7ab8830/brjopthal00130-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/ad10504c22d4/brjopthal00130-0067-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/19c80245599c/brjopthal00130-0067-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/2178bd0d1fd3/brjopthal00130-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/6f795037e451/brjopthal00130-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/6d7f3542bae1/brjopthal00130-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/23dd985c1b95/brjopthal00130-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/1e1068ed7c05/brjopthal00130-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/186b/1040828/1828f7ab8830/brjopthal00130-0075-a.jpg

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本文引用的文献

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External Ophthalmoplegia, Pigmentary Degeneration of the Retina, and Cardiomyopathy: A Newly Recognized Syndrome.外眼肌麻痹、视网膜色素变性和心肌病：一种新发现的综合征。
Trans Am Ophthalmol Soc. 1965;63:559-625.
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Inherited retinal dystrophy in the rat.大鼠遗传性视网膜营养不良
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Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block. Report of a case, with findings at autopsy.视网膜色素沉着、眼肌麻痹、共济失调、耳聋及心脏传导阻滞的发生。1例报告及尸检结果
通过傅里叶域光学相干断层扫描评估BBS1和BBS10相关的巴德-比埃尔综合征患者的视网膜形态。
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Proc Natl Acad Sci U S A. 2003 Mar 18;100(6):3439-44. doi: 10.1073/pnas.0534746100. Epub 2003 Mar 7.
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Clinical pathology and retinal vascular structure in the Bardet-Biedl syndrome.巴德-比德尔综合征的临床病理学与视网膜血管结构
Br J Ophthalmol. 1995 Jan;79(1):76-80. doi: 10.1136/bjo.79.1.76.
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Membrane fatty acids, glutathione-peroxidase activity, and cation transport systems of erythrocytes and malondialdehyde production by platelets in Laurence Moon Barter Biedl syndrome.劳伦斯-穆恩-巴尔特-比德尔综合征患者红细胞的膜脂肪酸、谷胱甘肽过氧化物酶活性、阳离子转运系统以及血小板丙二醛生成情况
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Congenital abnormalities of the urinary system. I. A postmortem survey of developmental anomalies and acquired congenital lesions in a children's hospital.泌尿系统先天性异常。I. 一家儿童医院发育异常和后天性先天性病变的尸检调查
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Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases.色素性视网膜炎、眼外肌麻痹和完全性心脏传导阻滞：一种不寻常的综合征，对两例中的一例进行了组织学研究。
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