MODELS OF HUMAN PHOTORECEPTOR DISEASES

视网膜色素变性是一组遗传性疾病的名称， 光感受器退化导致进行性丧失的人类 最终导致失明 项目实验室发现， 一些视网膜色素变性患者的致病基因突变 在视紫红质基因或编码外周蛋白/RDS的基因中。 我们还 发现一个有固定视杆细胞功能障碍的病人 （先天性静止性夜盲症）由于基因突变而患病， 视紫红质基因 在这份资助申请中，我们建议 携带这些显性突变的转基因小鼠。 的 将用检眼镜评价转基因小鼠， 组织病理学和视网膜电图检查。 研究报告 我们小组和其他人所得到的转基因小鼠应该提供新的 关于视网膜变性的病理生理学的信息， 人类 最后，这些小鼠模型应该是有价值的未来 旨在减缓视网膜病变发生率的治疗措施的研究 退化

Retinitis pigmentosa is the name give to a set of hereditary diseases in humans in which degeneration of photoreceptor leads to progressive loss of vision and ultimately blindness. The project laboratory has found that some patients with retinitis pigmentosa have pathogenic mutations in the rhodopsin gene or the gene encoding peripherin/rds. We have also discovered that a patient with a stationary rod photoreceptor dysfunction (congenital stationary night blindness) has disease due to a mutation in the rhodopsin gene. In this grant application we propose to generate transgenic mice that carry some of these dominant mutations. The transgenic mice will be evaluated ophthalmoscopically, histopathologically, and by electroretinography. Research studies of the resulting transgenic mice by our group and others should provide new information regarding the pathophysiology of retinal degeneration in humans. Finally, these mouse models should be valuable for future studies of therapeutic measures aimed at slowing the rate of retinal degeneration.