Abstract
Naturally occurring retinal dystrophies in laboratory and companion animals represent a wealth of different conditions, some of which are important from a comparative point of view, and all of which offer opportunities to further the understanding of retinal function and reaction in health and disease. The study of animal models of retinal dystrophies has provided candidate genes for investigation in conditions of man such as retinitis pigmentosa and has also led to the identification of new genes and even new families of genes. Mutations in the gene for the beta subunit of cyclic GMP phosphodiesterase cause retinal dystrophies in man, mice and dog, and mutations in the gene for the structural protein peripherin/RDS result in a retinal dystrophy in the mouse and a spectrum of differing retinal dystrophies in man. Animals with homologous retinal dystrophies to man may make useful models for investigation of treatment either by drugs or by gene therapy. Furthermore the use of transgenics and gene targeting in laboratory mice offers the opportunity to create new models of human retinal dystrophies and also to investigate the effect of gene dysfunction.
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Petersen-Jones, S. Animal models of human retinal dystrophies. Eye 12, 566–570 (1998). https://doi.org/10.1038/eye.1998.146
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DOI: https://doi.org/10.1038/eye.1998.146
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