Abstract
Inherited retinal diseases (IRDs) are a leading cause of blindness. To date, 260 disease-causing genes have been identified, but there is currently a lack of available and effective treatment options. Cone photoreceptors are responsible for daylight vision but are highly susceptible to disease progression, the loss of cone-mediated vision having the highest impact on the quality of life of IRD patients. Cone degeneration can occur either directly via mutations in cone-specific genes (primary cone death), or indirectly via the primary degeneration of rods followed by subsequent degeneration of cones (secondary cone death). How cones degenerate as a result of pathological mutations remains unclear, hindering the development of effective therapies for IRDs. This review aims to highlight similarities and differences between primary and secondary cone cell death in inherited retinal diseases in order to better define cone death mechanisms and further identify potential treatment options.
Highlights
Inherited retinal diseases (IRDs) are a class of disorders that cause visual dysfunction, with currently more than 260 disease-causing genes identified [1]
Sasahara et al [158] reported that endogenous bone marrow (BM)-derived stem cells that differentiated into microglia protected photoreceptors in the retinal degeneration 1 (Rd1), Rd10, and Rd12 mouse models of retinitis pigmentosa by preventing vascular and neural degeneration
Especially ones aimed at the cone photoreceptors responsible for colour vision and visual acuity—are vital in preserving vision and improved quality of life in patients [7]
Summary
Inherited retinal diseases (IRDs) are a class of disorders that cause visual dysfunction, with currently more than 260 disease-causing genes identified [1]. Retinitis pigmentosa makes up 40% of IRD cases, and there are over one million individuals living with the disease worldwide [12] It is caused by the primary degeneration of rod photoreceptors, which causes night blindness, generally occurring in young adulthood. Collin et al [16] offer a comprehensive overview on genes and associated IRD mouse models, and Winkler et al [17] recently reviewed the literature on large animal IRD models The objective of this current review is to distinguish the similarities and differences between primary and secondary cone degeneration in IRDs by summarising findings from in vivo IRD studies of the last 20 years in the hope that better understanding of cone death mechanisms will result in the discovery and clinical development of novel therapies
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