ANIMAL-MODELS OF HUMAN RETINAL DYSTROPHIES

Naturally occurring retinal dystrophies in laboratory and companion an imals represent a wealth of different conditions, some of which are im portant from a comparative point of view, and all of which offer oppor tunities to further the understanding of retinal function and reaction in health and disease. The study of animal models of retinal dystroph ies has provided candidate genes for investigation in conditions of ma n 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 dystro phies in man, mice and dog, and mutations in the gene for the structur al protein peripherin/RDS result in a retinal dystrophy in the mouse a nd a spectrum of differing retinal dystrophies in man. Animals with ho mologous retinal dystrophies to man may make useful models for investi gation of treatment either by drugs or by gene therapy. Furthermore th e 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.