Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects.

Published

Journal Article

Similar retinitis pigmentosa (RP) phenotypes can result from mutations affecting different rhodopsin regions, and distinct amino acid substitutions can cause different RP severity and progression rates. Specifically, both the R135L and R135W mutations (cytoplasmic end of H3) result in diffuse, severe disease (class A), but R135W causes more severe and more rapidly progressive RP than R135L. The P180A and G188R mutations (second intradiscal loop) exhibit a mild phenotype with regional variability (class B1) and diffuse disease of moderate severity (class B2), respectively. Computational and in vitro studies of these mutants provide molecular insights into this phenotypic variability.

Full Text

Duke Authors

Cited Authors

  • Iannaccone, A; Man, D; Waseem, N; Jennings, BJ; Ganapathiraju, M; Gallaher, K; Reese, E; Bhattacharya, SS; Klein-Seetharaman, J

Published Date

  • December 2006

Published In

Volume / Issue

  • 46 / 27

Start / End Page

  • 4556 - 4567

PubMed ID

  • 17014888

Pubmed Central ID

  • 17014888

International Standard Serial Number (ISSN)

  • 0042-6989

Digital Object Identifier (DOI)

  • 10.1016/j.visres.2006.08.018

Language

  • eng

Conference Location

  • England