Baehr Wolfgang, Frederick Jeanne M
John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, 65 Mario Capecchi Dr., Salt Lake City, UT 84132, USA.
Vision Res. 2009 Nov;49(22):2636-52. doi: 10.1016/j.visres.2009.04.008. Epub 2009 Apr 16.
Naturally occurring and laboratory generated animal models serve as powerful tools with which to investigate the etiology of human retinal degenerations, especially retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone dystrophies (CD) and macular degeneration (MD). Much progress has been made in elucidating gene defects underlying disease, in understanding mechanisms leading to disease, and in designing molecules for translational research and gene-based therapy to interfere with the progression of disease. Key to this progress has been study of naturally occurring murine and canine retinal degeneration mutants. This article will review the history, phenotypes and gene defects of select animal models with outer retina (photoreceptor and retinal pigment epithelium) degeneration phenotypes.
天然存在的和实验室培育的动物模型是研究人类视网膜变性病因的有力工具，尤其是视网膜色素变性（RP）、莱伯先天性黑蒙（LCA）、视锥细胞营养不良（CD）和黄斑变性（MD）。在阐明疾病潜在的基因缺陷、理解导致疾病的机制以及设计用于转化研究和基于基因的疗法以干扰疾病进展的分子方面已经取得了很大进展。这一进展的关键在于对天然存在的小鼠和犬类视网膜变性突变体的研究。本文将综述具有外视网膜（光感受器和视网膜色素上皮）变性表型的特定动物模型的历史、表型和基因缺陷。
