Abstract
Retinitis Pigmentosa (RP) is a group of inherited retinal degenerative diseases that affects 1 in 4,000 people worldwide. Mutations in the RHO gene are the main cause of autosomal dominant RP (adRP), which accounts for ~20-30% of total RP cases. RHO-P23H is the most common variant out of more than 100 mutations in the RHO gene associated with adRP. Animal models for adRP, particularly those expressing the P23H Rhodopsin variant, show discrepancies depending on the type of model generated. Therefore, the aim of this study was to generate a human physiologically relevant adRP-RHO-P23H in vitro model to better understand the disease mechanisms and ultimately improve clinical translation of new therapies to patients with adRP.
