Vision Res. 2006 Dec;46(27):4556-67. Epub 2006 Oct 2.

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

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

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Hamilton Eye Institute, Department of Ophthalmology, Retinal Degeneration and Ophthalmic Genetics Service, University of Tennessee Health Science Center, 930 Madison Avenue, Suit 731, Memphis, TN 38163, USA.

Abstract

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.

PMID:: 17014888; [PubMed - indexed for MEDLINE]

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