Mechanisms of Photoreceptor Death in Retinitis Pigmentosa

• Published in: Genes Vol. 11; no. 10; p. 1120
• Main Authors: Newton, Fay, Megaw, Roly
• Format: Journal Article
• Language: English
• Published: Basel MDPI AG 24-09-2020; MDPI
• Subjects: Apoptosis; Autophagy; Blindness; Cell death; Clinical trials; Cytochrome; Development and progression; Genetic aspects; Immune response; Innate immunity; Kinases; Lipid peroxidation; Metabolism; Microglia; Mutation; Oxidative stress; Photoreceptors; Physiological aspects; Proteins; Retina; Retinitis; Retinitis pigmentosa; Review; Tumor necrosis factor-TNF; United Kingdom
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes11101120

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.