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线粒体脑肌病伴乳酸血症和卒中样发作综合征中的黄斑图案营养不良和同向性偏盲

Macular pattern dystrophy and homonymous hemianopia in MELAS syndrome.

作者信息

Kamal-Salah Radua, Baquero-Aranda Isabel, Grana-Pérez María Del Mar, García-Campos Jose Manuel

机构信息

Department of Ophthalmology, Hospital Virgen de la Victoria of Malaga, Spain, Malaga, Malaga, Spain.

Department of Ophthalmology, Centro de Investigaciones Médico-Sanitarias, Malaga, Malaga, Spain.

出版信息

BMJ Case Rep. 2015 Mar 12;2015:bcr2014206499. doi: 10.1136/bcr-2014-206499.

DOI:10.1136/bcr-2014-206499
PMID:25766436
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4368966/
Abstract

We report an unusual association of a pattern dystrophy of the retinal pigment epithelium and homonymous hemianopia in a woman diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome.

摘要

我们报告了一名被诊断为线粒体肌病、脑病、乳酸性酸中毒和卒中样发作综合征的女性患者，其视网膜色素上皮的图案性营养不良与同侧偏盲存在异常关联。

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Macular pattern dystrophy and homonymous hemianopia in MELAS syndrome.线粒体脑肌病伴乳酸血症和卒中样发作综合征中的黄斑图案营养不良和同向性偏盲
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本文引用的文献

1
Mitochondrial DNA (mtDNA) A 3243G mutation associated with an annular perimacular retinal atrophy.与环形黄斑周围视网膜萎缩相关的线粒体DNA（mtDNA）A3243G突变。
Klin Monbl Augenheilkd. 2008 May;225(5):462-4. doi: 10.1055/s-2008-1027257.
2
MELAS A3243G mitochondrial DNA mutation and age related maculopathy.线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）A3243G线粒体DNA突变与年龄相关性黄斑病变
Am J Ophthalmol. 2004 Dec;138(6):1051-3. doi: 10.1016/j.ajo.2004.06.026.
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Pigmentary retinopathy in patients with the MELAS mutation 3243A-->G in mitochondrial DNA.线粒体DNA中存在MELAS突变3243A→G的患者的色素性视网膜病变。
Graefes Arch Clin Exp Ophthalmol. 2002 Oct;240(10):795-801. doi: 10.1007/s00417-002-0555-y. Epub 2002 Sep 21.
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[Eye diseases in mitochondrial encephalomyopathies].[线粒体脑肌病中的眼部疾病]
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Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM Group.母系遗传糖尿病和耳聋中黄斑图案营养不良的患病率。GEDIAM研究小组。
Ophthalmology. 1999 Sep;106(9):1821-7. doi: 10.1016/s0161-6420(99)90356-1.
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Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation.
Am J Ophthalmol. 1999 Jul;128(1):112-4. doi: 10.1016/s0002-9394(99)00057-4.
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ATP-dependent regulation of inwardly rectifying K+ current in bovine retinal pigment epithelial cells.牛视网膜色素上皮细胞中内向整流钾电流的ATP依赖性调节
Am J Physiol. 1998 Nov;275(5):C1372-83. doi: 10.1152/ajpcell.1998.275.5.C1372.
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Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation.与线粒体DNA突变相关的线粒体疾病中的视网膜表现。
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Membrane polarity of the Na(+)-K+ pump in primary cultures of Xenopus retinal pigment epithelium.非洲爪蟾视网膜色素上皮原代培养物中钠钾泵的膜极性
Exp Eye Res. 1994 Nov;59(5):587-96. doi: 10.1006/exer.1994.1144.
10
Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation.与线粒体DNA 3243点突变相关的色素性视网膜病变。
Neurology. 1997 Oct;49(4):1013-7. doi: 10.1212/wnl.49.4.1013.