Kalloniatis Michael, Fletcher Erica L
Department of Optometry and Vision Science, University of Auckland, Private Bag 92019, Auckland, New Zealand.
Clin Exp Optom. 2004 Mar;87(2):65-80. doi: 10.1111/j.1444-0938.2004.tb03152.x.
Retinitis pigmentosa (RP) is a leading cause of human blindness due to degeneration of retinal photoreceptor cells. Causes of retinal degeneration include defects in the visual pigment, defects in the proteins important for photoreceptor function or in enzymes involved in initiating visual transduction. Despite the diversity of genetic mutations identified in inherited forms of retinal dystrophy, there is a common end result of photoreceptor death and functional blindness. In this review, pertinent anatomical and physiological pathways involved in RP and the underlying genetic mutations are outlined, including a discussion on the inheritance patterns revealed by advances in molecular biological techniques. Characteristics of progression rates of visual field loss and current management options will provide useful clinical guidelines for the management of patients with RP.
视网膜色素变性（RP）是导致人类失明的主要原因之一，是由视网膜光感受器细胞变性引起的。视网膜变性的原因包括视觉色素缺陷、对光感受器功能重要的蛋白质缺陷或参与启动视觉转导的酶缺陷。尽管在遗传性视网膜营养不良中发现了多种基因突变，但最终都会导致光感受器死亡和功能性失明。在这篇综述中，概述了与视网膜色素变性相关的相关解剖学和生理学途径以及潜在的基因突变，包括对分子生物学技术进展所揭示的遗传模式的讨论。视野丧失的进展速度特征和当前的治疗选择将为视网膜色素变性患者的管理提供有用的临床指导。
