Abstract
Retinitis pigmentosa (RP) comprises a group of inherited pathologies characterized by progressive photoreceptor degeneration. In rodent models of RP, expression of defective genes and retinal degeneration usually manifest during the first weeks of postnatal life, making it difficult to distinguish consequences of primary genetic defects from abnormalities in retinal development. Moreover, mouse eyes are small and not always adequate to test pharmacological and surgical treatments. An inducible paradigm of retinal degeneration potentially extensible to large animals is therefore desirable. Starting from the serendipitous observation that intraocular injections of a Rho GTPase activator, the bacterial toxin Cytotoxic Necrotizing Factor 1 (CNF1), lead to retinal degeneration, we implemented an inducible model recapitulating most of the key features of Retinitis Pigmentosa. The model also unmasks an intrinsic vulnerability of photoreceptors to the mechanism of CNF1 action, indicating still unexplored molecular pathways potentially leading to the death of these cells in inherited forms of retinal degeneration.
Highlights
Retinitis pigmentosa (RP) comprises a group of inherited pathologies characterized by progressive photoreceptor degeneration
We successfully implemented a paradigm of retinal degeneration that summarizes key features of typical retinitis pigmentosa (RP), and : Figure 5
- Retinal degeneration can be induced in young adult animals, to what observed in humans, for which the typical age of RP manifestation is late adolescence, outside the window of retinal development;
Summary
Retinitis pigmentosa (RP) comprises a group of inherited pathologies characterized by progressive photoreceptor degeneration. Retinitis pigmentosa (RP) includes a group of pathologies in which a mutation, typically in a retinal-specific gene, leads to primary rod photoreceptor loss, causing night blindness and reduction of the peripheral visual field[1]. This process is followed by the secondary death of cones, with consequent daytime blindness and loss of color vision and visual acuity up to near blindness. Few inducible mouse models of RP have been developed, which are limited by the non-tissue specific expression of the underlying mutation[10,11,12]
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