Abstract
Inherited retinal dystrophies (IRDs) are a group of retinal disorders that cause progressive and severe loss of vision because of retinal cell death, mainly photoreceptor cells. IRDs include retinitis pigmentosa (RP), the most common IRD. IRDs present a genetic and clinical heterogeneity that makes it difficult to achieve proper treatment. The progression of IRDs is influenced, among other factors, by the activation of the immune cells (microglia, macrophages, etc.) and the release of inflammatory molecules such as chemokines and cytokines. Upregulation of tumor necrosis factor alpha (TNFα), a pro-inflammatory cytokine, is found in IRDs. This cytokine may influence photoreceptor cell death. Different cell death mechanisms are proposed, including apoptosis, necroptosis, pyroptosis, autophagy, excessive activation of calpains, or parthanatos for photoreceptor cell death. Some of these cell death mechanisms are linked to TNFα upregulation and inflammation. Therapeutic approaches that reduce retinal inflammation have emerged as useful therapies for slowing down the progression of IRDs. We focused this review on the relationship between retinal inflammation and the different cell death mechanisms involved in RP. We also reviewed the main anti-inflammatory therapies for the treatment of IRDs.
Highlights
There are therapeutic strategies focused on inhibiting apoptosis and other non-apoptotic cell death mechanisms; for instance, the gene therapy based on introducing the X-linked inhibitor of apoptosis (XIAP) protein that has neuroprotective effects on the structure and function of photoreceptors in P23H and S334ter rats [127]
The inflammatory processes and the putative cell death mechanisms related to inflammation during Inherited retinal dystrophies (IRDs), mainly retinitis pigmentosa (RP), were reviewed
The main drivers of the death of photoreceptor cells in IRDs depend on the genetic defect, the cell type, and the stage of the disease
Summary
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. Inherited retinal dystrophies (IRDs) constitute a heterogeneous group of retinal diseases that cause the progressive loss of vision. IRDs are mainly associated with photoreceptor (rods and cones) dysfunction and loss that eventually leads to blindness. Retinal pigment epithelium (RPE) cells are associated with IRDs (e.g., RPE65 gene mutations). IRDs include syndromic forms such as Usher syndrome and non-syndromic forms such as Retinitis Pigmentosa (RP), Leber’s congenital amaurosis, Stargardt’s macular dystrophy, choroideremia, macular degeneration, or congenital stationary night blindness. This heterogeneity makes difficult to find the specific mutation, as well as the correct treatment for most of these diseases. The purpose of this review was to provide an overview of the inflammatory processes and some cell death mechanisms involved in RP, as well as the current anti-inflammatory approaches for slowing down the photoreceptor cell loss
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