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Mechanisms of Photoreceptor Death in Retinitis Pigmentosa

by 1,* and 1,2
1
MRC Human Genetics Unit, University of Edinburgh, South Bridge, Edinburgh EH8 9YL, UK
2
Princess Alexandra Eye Pavilion, NHS Lothian, Edinburgh EH3 9HA, UK
*
Author to whom correspondence should be addressed.
Genes 2020, 11(10), 1120; https://doi.org/10.3390/genes11101120
Received: 2 September 2020 / Revised: 15 September 2020 / Accepted: 22 September 2020 / Published: 24 September 2020
(This article belongs to the Special Issue Genomics and Therapeutics of Hereditary Eye Disease)
Retinitis pigmentosa (RP) is the most common cause of inherited blindness and is characterised by the progressive loss of retinal photoreceptors. However, RP is a highly heterogeneous disease and, while much progress has been made in developing gene replacement and gene editing treatments for RP, it is also necessary to develop treatments that are applicable to all causative mutations. Further understanding of the mechanisms leading to photoreceptor death is essential for the development of these treatments. Recent work has therefore focused on the role of apoptotic and non-apoptotic cell death pathways in RP and the various mechanisms that trigger these pathways in degenerating photoreceptors. In particular, several recent studies have begun to elucidate the role of microglia and innate immune response in the progression of RP. Here, we discuss some of the recent progress in understanding mechanisms of rod and cone photoreceptor death in RP and summarise recent clinical trials targeting these pathways. View Full-Text
Keywords: retinitis pigmentosa; photoreceptor; inherited retinal disease; apoptosis; regulated necrosis; autophagy; microglia; clinical trials retinitis pigmentosa; photoreceptor; inherited retinal disease; apoptosis; regulated necrosis; autophagy; microglia; clinical trials
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Newton, F.; Megaw, R. Mechanisms of Photoreceptor Death in Retinitis Pigmentosa. Genes 2020, 11, 1120.

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