Retinitis Pigmentosa (RP) is a group of retinal degenerative diseases that are characterized mainly by the loss of rod photoreceptor cells. RP can be sub divided into 3 classes, autosomal dominant, autosomal recessive, and X- linked RP, where the mutant gene exists on the sex chromosome (X) (Hartong et al., 2006; Wang et al., 2005). Mutations in rhodopsin are the most common cause of the autosomaldominant form of RP (ADRP). More than 100 mutations in rhodopsin account for approximately 30 of ADRP cases with varying severity of visual impairment (Dryja et al., 1991). Based on in vitro studies (Sung et al., 1993; Sung et al., 1991), rhodopsin mutations that are similar to wild-type in terms of expression levels, folding and formation of functional photopigment are considered Class 1 mutations.
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Chakraborty, D., Whalen, P., Lewin, A.S., Naash, M.I. (2008). In vitro Analysis of Ribozyme-mediated Knockdown of an ADRP Associated Rhodopsin Mutation. 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_10
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