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遗传性视网膜疾病中分子遗传学和电生理学的发展。

Developments in molecular genetics and electrophysiology in inherited retinal disorders.

作者信息

Andréasson Sten

机构信息

Department of Ophthalmology, University Hospital of Lund, Lund, Sweden.

出版信息

Acta Ophthalmol Scand. 2006 Apr;84(2):161-8. doi: 10.1111/j.1600-0420.2006.00657.x.

DOI:10.1111/j.1600-0420.2006.00657.x
PMID:16637830
Abstract

Retinitis pigmentosa is said to be the most frequent reason for severe visual handicap among young people in Scandinavia today. Developments in the fields of electrophysiology and molecular genetics have increased our understanding of the pathophysiology of these disorders and have also improved our clinical competence, leading to a better understanding of the patient's visual handicap and his or her prognosis. This represents the first step towards fulfilling our plan for the future, which is ultimately to cure blindness caused by the different forms of hereditary retinal degeneration. This review is based on 20 years of research at the Department of Ophthalmology in Lund.

摘要

色素性视网膜炎据说是当今斯堪的纳维亚半岛年轻人严重视力障碍的最常见原因。电生理学和分子遗传学领域的发展增进了我们对这些疾病病理生理学的理解,也提高了我们的临床能力,从而使我们能更好地理解患者的视力障碍及其预后。这是迈向实现我们未来计划的第一步,该计划最终目标是治愈由不同形式的遗传性视网膜变性导致的失明。这篇综述基于隆德大学眼科20年的研究。

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Mol Vis. 2011;17:1355-72. Epub 2011 May 25.
2
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.CERKL(p.R106S)核定位信号序列中的错义突变导致常染色体隐性视网膜变性。
Mol Vis. 2008;14:1960-4. Epub 2008 Oct 30.