In photoreceptors, the photo-isomerization of 11-cis-retinal chromophore into alltrans-retinal is the first step of the photo-transduction cascade. To regain light sensitivity after light exposure, photoreceptors need to recycle their chromophore. This is done through the retinoid visual cycle, which involves a series of enzymatic reactions taking place in photoreceptors as well as in the cells of the retinal-pigmented epithelium (RPE) (reviewed by JC Saari (Saari, 2000)). Rpe65, a gene specifically expressed in RPE, has recently been identified as the isomerohydrolase (Jin et al., 2005; Moiseyev et al., 2005), one of the key enzymes of the retinoid visual cycle. As a consequence, when Rpe65 is mutated, the retinoid visual cycle is disrupted, and the sensitivity to light of the photoreceptors is drastically reduced.
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Bemelmans, AP. et al. (2008). Lentiviral Gene Transfer-Mediated Cone Vision Restoration in RPE65 Knockout Mice. In: Anderson, R.E., LaVail, M.M., Hollyfield, J.G. (eds) Recent Advances in Retinal Degeneration. Advances in Experimental Medicine and Biology, vol 613. Springer, New York, NY. https://doi.org/10.1007/978-0-387-74904-4_9
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