Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa

Abstract

RHO C110Y-associated adRP is characterized by a late onset and a mild progression compatible with type 2 or regional RP with little intrafamilial phenotypic variability and complete penetrance. Characterization of genotype-phenotype correlations plays a role in the improvement of genetic and prognostic counselling.

Severe Retinal Degeneration Caused by a Novel Rhodopsin Mutation

“…These three mutations closely mimic some of the phenotypic characteristics of human RP and are useful for investigating the biochemical mechanisms for RP caused by mutant opsins. 24,25 It is unclear why such a small number of naturally occurring rhodopsin mutations have been identified in animals though ONL, outer nuclear layer; OPL, outer plexiform layer; INL, inner nuclear layer. (B) Western blot analysis results of the membrane proteinenriched samples prepared from P14 mouse retinas detected by a monoclonal anti-rhodopsin antibody.…”

Genotype–Phenotype Correlation of MousePde6bMutations

“…Similar correlations between missense mutations and severity of RP phenotype have been reported in patients with mutations in the rhodopsin gene. 28,29 The Cys110Tyr mutation (intradiscal) shows a late-onset and milder phenotype, 28 whereas the Arg135Leu, which affect the transmembrane domain of the protein, appears to present with a more severe form of RP. 29 The atrd2 mutation results in a defect in splicing of the Pde6b transcript and a consequent reduction in normal mRNA.…”