Recent advances in the molecular basis of inherited photoreceptor degeneration.
To date, 118 loci have been associated with photoreceptor degenerative disease. In this review, we will discuss recent advances in the identification of genes that cause progressive photoreceptor cell death when mutated. We will focus on 12 genes isolated within the last two years that have been shown to be photoreceptor-specific, or that have provided insight into photoreceptor biology and the mechanisms of photoreceptor cell death. To aid in understanding the biologic basis for these diseases, we also briefly review photoreceptor biology. Finally, we report on recent advances towards the treatment of these disorders.
Clarke
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Program in Developmental Biology and Genetics, The Research Institute, Hospital for Sick Children, Toronto, Ontario.
Héon
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E
McInnes
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RR
D000818:Animals; D015785:Eye Diseases, Hereditary / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D015316:Genetic Therapy; D006801:Humans; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology*; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology / Q000628:therapy