May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Identification of Novel RHO Mutations in Patients with Autosomal Dominant Retinitis Pigmentosa
N.H. Waseem; A. Perkins; B. Scott; E. Winchester; S. Jenkins; A. Webster; A.C. Bird; S.S. Bhattacharya
Author Affiliations & Notes
  • N.H. Waseem
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • A. Perkins
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • B. Scott
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • E. Winchester
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • S. Jenkins
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • A. Webster
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • A.C. Bird
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • S.S. Bhattacharya
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • Footnotes
    Commercial Relationships  N.H. Waseem, None; A. Perkins, None; B. Scott, None; E. Winchester, None; S. Jenkins, None; A. Webster, None; A.C. Bird, None; S.S. Bhattacharya, None.
  • Footnotes
    Support  Moorfields Eye Hospital Special Trustees Fund
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 2448. doi:
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      N.H. Waseem, A. Perkins, B. Scott, E. Winchester, S. Jenkins, A. Webster, A.C. Bird, S.S. Bhattacharya; Identification of Novel RHO Mutations in Patients with Autosomal Dominant Retinitis Pigmentosa . Invest. Ophthalmol. Vis. Sci. 2004;45(13):2448.

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Abstract

Abstract: : Purpose:To perform mutational screen of Rhodopsin on patients with suggestive autosomal dominant retinitis pigmentosa and to estimate the prevalence in the UK population. Methods:Five exons of Rhodopsin along with the flanking regions were screened for mutation by direct nucleotide sequencing of PCR products. Results:Probands from 192 independent ADRP families were screened for changes in the Rhodopsin gene. Twenty one changes were identified in this panel, with six being novel. These alterations are scattered along the entire Rhodopsin gene. Conclusions:Ten percent of ADRP patients showed mutations in Rhodopsin gene, of which 20% were new changes

Keywords: mutations • gene screening • retinitis 
© 2004, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2024 Association for Research in Vision and Ophthalmology.
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