Luigi Donato

Retinitis pigmentosa is a heterogeneous eye disease group with a relatively high prevalence and a frequent onset at the middle age. Clinical observation of the wide spectrum of this pathology has been efficient, such as their genetic analysis, and a large catalogue of implicated loci has emerged. In addition to locus and allelic heterogeneity, along with allelic disorders, the complexity of retinitis pigmentosa is related to the actual lack of knowledge on all possible causative genes and their function. Such scenario implies that retinitis pigmentosa pathogenesis is not well understood, thus the research of new involved biochemical pathways is vital. In this review, we consider the architecture of genetic aspects that influence retinal degeneration, analyzing main biochemical pathways (such as inflammation, circadian rhythms, fatty acid metabolism, proteostasis, vesicular trafficking, phototransduction, RNA processing, extracellular matrix remodeling, cellular cycle regulation, etc.) implicated in photoreceptor degeneration via RPE impairments.

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