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Vision Res. 2009 Nov;49(22):2636-52. doi: 10.1016/j.visres.2009.04.008. Epub 2009 Apr 16.

Naturally occurring animal models with outer retina phenotypes.

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John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, 65 Mario Capecchi Dr., Salt Lake City, UT 84132, USA.


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.

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