Journal
ANNUAL REVIEW OF NEUROSCIENCE, VOL 33
Volume 33, Issue -, Pages 441-472Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-neuro-060909-153227
Keywords
retinal degeneration; pathogenesis of photoreceptor death; genomic; biochemical; and cellular responses to mutation; human histology; gene therapy
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Funding
- MRC [MC_U127584475] Funding Source: UKRI
- Medical Research Council [G0700704B] Funding Source: researchfish
- CIHR Funding Source: Medline
- Medical Research Council [MC_U127584475] Funding Source: Medline
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The association of more than 140 genes with human photoreceptor degenerations, together with studies of animal models of these monogenic diseases, has provided great insight into their pathogenesis. Here we review the responses of the retina to photoreceptor mutations, including mechanisms of photoreceptor death. We discuss the roles of oxidative metabolism, mitochondrial reactive oxygen species, metabolic stress, protein misfolding, and defects in ciliary proteins, as well as the responses of Muller glia, microglia, and the retinal vasculature. Finally, we report on potential pharmacologic and biologic therapies, the critical role of histopathology as a prerequisite to treatment, and the exciting promise of gene therapy in animal models and in phase I trials in humans.
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