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血浆鸟氨酸正常但血浆牛磺酸水平低的回旋状萎缩样表型。

Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine.

作者信息

Labiano Aubhugn T, Arroyo Milagros H

机构信息

Department of Ophthalmology and Visual Sciences, Sentro Oftalmologico Jose Rizal, University of the Philippines Manila - Philippine General Hospital, Manila, Philippines.

出版信息

GMS Ophthalmol Cases. 2020 Feb 27;10:Doc04. doi: 10.3205/oc000131. eCollection 2020.

DOI:10.3205/oc000131
PMID:32269902
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7113615/
Abstract

We present the case of a 39-year-old male with sectoral chorioretinal atrophy similar to that seen in gyrate atrophy (GA) but with a normal plasma ornithine level. Unlike previously reported cases of GA, he had below-normal plasma taurine concentration. Much remains unknown about the pathophysiologic mechanism underlying gyrate-like chorioretinal atrophy. The concomitant occurrence of GA-like phenotype and hypotaurinemia suggests a possible future avenue for research on this matter.

摘要

我们报告了一例39岁男性患者，其患有扇形脉络膜视网膜萎缩，类似于回旋状萎缩（GA），但血浆鸟氨酸水平正常。与先前报道的GA病例不同，他的血浆牛磺酸浓度低于正常水平。关于类回旋状脉络膜视网膜萎缩的病理生理机制，仍有许多未知之处。GA样表型与低牛磺酸血症的同时出现，为该问题的未来研究提供了一条可能的途径。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/073b/7113615/d6b13e01b73c/OC-10-04-g-002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/073b/7113615/0e018bb4a8d1/OC-10-04-t-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/073b/7113615/3a72258680b3/OC-10-04-g-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/073b/7113615/d6b13e01b73c/OC-10-04-g-002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/073b/7113615/0e018bb4a8d1/OC-10-04-t-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/073b/7113615/3a72258680b3/OC-10-04-g-001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/073b/7113615/d6b13e01b73c/OC-10-04-g-002.jpg

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本文引用的文献

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Clinical and Genetic Features of Choroideremia in Childhood.儿童型脉络膜视网膜炎的临床和遗传学特征。
Ophthalmology. 2016 Oct;123(10):2158-65. doi: 10.1016/j.ophtha.2016.06.051. Epub 2016 Aug 6.
2
Gyrate Atrophy-Like Phenotype: Normal Plasma Ornithine and Retinal Crystals.回旋状萎缩样表型：血浆鸟氨酸正常及视网膜晶体
Optom Vis Sci. 2016 Sep;93(9):1173-80. doi: 10.1097/OPX.0000000000000906.
3
Taurine: the comeback of a neutraceutical in the prevention of retinal degenerations.牛磺酸：一种在预防视网膜变性中的营养保健品的复兴。
Prog Retin Eye Res. 2014 Jul;41:44-63. doi: 10.1016/j.preteyeres.2014.03.001. Epub 2014 Apr 8.
4
Taurine deficiency damages photoreceptors and retinal ganglion cells in vigabatrin-treated neonatal rats.牛磺酸缺乏症损害 vigabatrin 处理的新生大鼠的光感受器和视网膜神经节细胞。
Mol Cell Neurosci. 2010 Apr;43(4):414-21. doi: 10.1016/j.mcn.2010.01.008. Epub 2010 Feb 1.
5
Taurine deficiency is a cause of vigabatrin-induced retinal phototoxicity.牛磺酸缺乏是vigabatrin诱导的视网膜光毒性的一个原因。
Ann Neurol. 2009 Jan;65(1):98-107. doi: 10.1002/ana.21526.
6
PAVING-STONE DEGENERATION OF THE RETINA.视网膜铺路石样变性
Arch Ophthalmol. 1965 Feb;73:169-82. doi: 10.1001/archopht.1965.00970030171006.
7
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8
Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine.伴有高鸟氨酸血症的脉络膜和视网膜回旋性萎缩。精氨酸生成胍基乙酸的过程存在缺陷。
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Tohoku J Exp Med. 1981 Dec;135(4):395-402. doi: 10.1620/tjem.135.395.
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