色素性视网膜炎及相关病症的今昔：转化研究的范例。
Retinitis pigmentosa and allied conditions today: a paradigm of translational research.
机构信息
Department of Medical Genetics, IIS-Fundación Jiménez Díaz/CIBERER, Av/Reyes Católicos no, 2; 28040, Madrid, Spain.
出版信息
Genome Med. 2010 May 27;2(5):34. doi: 10.1186/gm155.
Abstract
Monogenic human retinal dystrophies are a group of disorders characterized by progressive loss of photoreceptor cells leading to visual handicap. Retinitis pigmentosa is a type of retinal dystrophy where degeneration of rod photoreceptors occurs at the early stages. At present, there are no available effective therapies to maintain or improve vision in patients affected with retinitis pigmentosa, but post-genomic studies are allowing the development of potential therapeutic approaches. This review summarizes current knowledge on genes that have been identified to be responsible for retinitis pigmentosa, the involvement of these genes in the different forms of the disorder, the role of the proteins encoded by these genes in retinal function, the utility of genotyping, and current efforts to develop novel therapies.
摘要
单基因性人类视网膜营养不良是一组以感光细胞进行性丧失为特征的疾病，导致视力障碍。色素性视网膜炎是一种视网膜营养不良，其中杆状光感受器在早期发生变性。目前，对于受色素性视网膜炎影响的患者，没有有效的治疗方法可以维持或改善视力，但基因组后研究正在允许潜在治疗方法的发展。这篇综述总结了目前已知导致色素性视网膜炎的基因、这些基因在不同形式疾病中的作用、这些基因编码的蛋白质在视网膜功能中的作用、基因分型的实用性以及目前开发新型治疗方法的努力。
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