Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with <i>RHO</i> copy number variation.

ABSTRACT: Retinitis pigmentosa (RP), a heterogenous group of inherited retinal disorder causes slow progressive vision loss with no effective treatments available. Mutations in the rhodopsin gene (RHO), account for ~25% cases of autosomal dominant RP (adRP). In this study, we describe the disease characteristics of the first ever reported mono-allelic copy number variation (CNV) in RHO as a novel cause of adRP. We (1) show advanced retinal degeneration in a male patient (60-70 year old) harboring four transcriptionally active intact copies of rhodopsin, (2) recapitulated the clinical phenotypes using retinal organoids, and (3) assessed the utilization of a small molecule, Photoregulin3 (PR3), as a clinically viable strategy to target and modify disease progression in RP patients associ

SUBMITTER: Kandoi S 

PROVIDER: S-EPMC10002783 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature