MODELS OF HUMAN PHOTORECEPTOR DISEASES

色素性视网膜炎是一组遗传性疾病的统称

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.