Preventing light-induced toxicity in a new mouse model of sector retinitis pigmentosa caused by Rhodopsin M39R variant.

ABSTRACT: Retinitis Pigmentosa (RP) is an inherited retinal dystrophy characterised by the progressive loss of rod photoreceptors. Sector RP is a form of RP where degeneration originates in the inferior retina, mainly influenced by light exposure. Over 200 RHO variants are pathogenic and associated with autosomal dominant RP. RHO^M39R is one of the most common RHO variants linked to sector RP in the UK. A knock-in (KI) mouse model expressing Rho^M39R was generated and characterised to investigate the mechanisms of degeneration associated with this variant and explore novel therapeutic strategies for rhodopsin sector RP. Under cyclic ambient light, Rho^M39R/+ KI mice exhibited impaired retinal function by ERG, with some defects in OS ultrastructure, but retained normal o

SUBMITTER: Guarascio R 

PROVIDER: S-EPMC12540888 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature