Perspective on genes and mutations causing retinitis pigmentosa
Perspective on genes and mutations causing retinitis pigmentosa
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DOI：
10.1001/archopht.125.2.151
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发表时间：
2007-02-01
影响因子：
--
通讯作者：
Sullivan, Lori S.
中科院分区：
文献类型：
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作者：
Daiger, Stephen P.;Bowne, Sara J.;Sullivan, Lori S.
过去二十年来，在识别导致遗传性视网膜疾病（例如色素性视网膜炎）的基因方面取得了巨大进展。一个不可避免的后果是基因、突变和临床结果之间的关系变得非常复杂。成功识别遗传性视网膜疾病的病因具有许多意义，包括更好地了解视觉的生物学基础和深入了解视网膜病理学过程。从临床角度来看，这些进展引发了两个重要问题：我们今天在受影响个体中发现致病突变方面处于什么位置，以及这些信息对临床实践有何影响？这一观点专门针对色素性视网膜炎解决了这些问题，但这些观察结果普遍适用于其他形式的遗传性眼病。
Exceptional progress has been made during the past two decades in identifying genes causing inherited retinal diseases such as retinitis pigmentosa. An inescapable consequence is that the relationship between genes, mutations, and clinical findings has become very complex. Success in identifying the causes of inherited retinal diseases has many implications, including a better understanding of the biological basis of vision and insights into the processes involved in retinal pathology. From a clinical point of view, there are two important questions arising from these developments: where do we stand today in finding disease-causing mutations in affected individuals, and what are the implications of this information for clinical practice? This perspective addresses these questions specifically for retinitis pigmentosa, but the observations apply generally to other forms of inherited eye disease.