Journal
VISION RESEARCH
Volume 49, Issue 22, Pages 2636-2652Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.visres.2009.04.008
Keywords
Vertebrate animal models for retinal degeneration; Rod and cone photoreceptors; Retinoid cycle; Leber congenital amaurosis; Retinitis pigmentosa; Cone/rod dystrophy
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Funding
- NEI NIH HHS [P30 EY014800, R01 EY008123-21, R01 EY008123, P30 EY014800-059003, R01 EY019298-01, R01 EY019298] Funding Source: Medline
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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. (C) 2009 Elsevier Ltd. All rights reserved.
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