Department of Pharmacology, School of Medicine, Case Western Reserve University, Cleveland, OH 44106-4965, USA.
Trends Pharmacol Sci. 2010 Jun;31(6):284-95. doi: 10.1016/j.tips.2010.03.001.
Knowledge about retinal photoreceptor signal transduction and the visual cycle required for normal eyesight has increased exponentially over the past decade. Substantial progress in human genetics has facilitated the identification of candidate genes and complex networks underlying inherited retinal diseases. Natural mutations in animal models that mimic human diseases have been characterized and advanced genetic manipulation can now be used to generate small mammalian models of human retinal diseases. Pharmacological repair of defective visual processes in animal models not only validates their involvement in vision, but also provides great promise for the development of improved therapies for millions who are progressing towards blindness or are almost completely robbed of their eyesight.
过去十年中，人们对视网膜光感受器信号转导和视觉循环的认识呈指数级增长，这些知识对于正常视力至关重要。人类遗传学的重大进展促进了候选基因的鉴定和遗传性视网膜疾病的复杂网络。以模拟人类疾病的动物模型中的自然突变已经得到了描述，并且现在可以先进的遗传操作来生成人类视网膜疾病的小型哺乳动物模型。在动物模型中对有缺陷的视觉过程进行药物修复不仅验证了它们在视觉中的作用，而且为开发针对数百万正在失明或几乎完全失明的人的改进疗法提供了巨大的希望。
