Identification and Characterization of Genes Expressed in Cone Photoreceptors
Most human hereditary retinal degenerations can be classified as rod-cone degenerations (such as retinitis pigmentosa), cone-rod degenerations (exemplified by some cone dystrophies), and diseases affecting cones exclusively (i.e., cone degenerations) (Krill, 1977; Hamel, 2007; Simunovic and Moore, 1998). In these disorders the disease process is often difficult to analyze because its time-course is slow (many years) and tissues for morphologic, biochemical or molecular biology studies are not always available. Use of animal models of retinal degeneration and advanced biotechnology have helped to elucidate the cause of some of these diseases and the mechanisms by which mutated genes lead to blindness. In general, when there is widespread degeneration of rods, regardless of the selective or not selective expression of the gene product in these cells, there is a concomitant loss of cones.
KeywordsRetinitis Pigmentosa Retinal Degeneration Cone Photoreceptor Mitochondrial Carrier Cone Dystrophy
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