关注儿童失明。
Spotlight on childhood blindness.
机构信息
INSERM, U968, Paris, France.
出版信息
J Clin Invest. 2011 Jun;121(6):2145-9. doi: 10.1172/JCI58300. Epub 2011 May 23.
Abstract
Leber congenital amaurosis (LCA) is a rare disease that severely affects vision in early life. It is characterized by genetic and clinical heterogeneity due to complex and not fully understood pathogenetic mechanisms. It is also now widely known as a disease model for gene therapy. In this issue of the JCI, two independent research groups report valuable new data on LCA. Specifically, they provide important insights into the pathophysiological mechanisms of LCA and offer strong hope that the outcome of gene therapy for retinal degenerative diseases will be successful.
摘要
Leber 先天性黑矇（LCA）是一种罕见疾病，会严重影响早期视力。由于发病机制复杂且尚未完全阐明，其具有遗传和临床异质性的特点。目前，LCA 也被广泛认为是基因治疗的疾病模型。在本期 JCI 中，两个独立的研究小组报告了有关 LCA 的有价值的新数据。具体而言，他们深入了解了 LCA 的病理生理学机制，并为视网膜退行性疾病的基因治疗结果带来了成功的希望。
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本文引用的文献
1
The human visual cortex responds to gene therapy-mediated recovery of retinal function.人类视觉皮层对基因治疗介导的视网膜功能恢复有反应。
J Clin Invest. 2011 Jun;121(6):2160-8. doi: 10.1172/JCI57377. Epub 2011 May 23.
2
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.视蛋白纤毛内运输障碍导致人类和小鼠先天性黑蒙性眼病。
J Clin Invest. 2011 Jun;121(6):2169-80. doi: 10.1172/JCI45627. Epub 2011 May 23.
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Gene therapy for vision loss -- recent developments.视力丧失的基因治疗——最新进展
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Current concepts in the treatment of retinitis pigmentosa.视网膜色素变性治疗的当前概念
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5
Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis.用人类 RPGRIP1 序列进行替代基因治疗可减缓莱伯先天性黑矇小鼠模型中的光感受器变性。
Hum Gene Ther. 2010 Aug;21(8):993-1004. doi: 10.1089/hum.2009.218.
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Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration.经载体给药 1.5 年后，莱伯先天性黑蒙的基因治疗是安全有效的。
Mol Ther. 2010 Mar;18(3):643-50. doi: 10.1038/mt.2009.277. Epub 2009 Dec 1.
7
Vision 1 year after gene therapy for Leber's congenital amaurosis.莱伯先天性黑矇症基因治疗1年后的视力情况。
N Engl J Med. 2009 Aug 13;361(7):725-7. doi: 10.1056/NEJMc0903652.
8
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.RPGRIP1L 中的常见等位基因是纤毛病中视网膜变性的修饰因子。
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