May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Achromatopsia Associated with Mutations in CNGA3 and CNGB3
S. Johnson; M. Michaelides; I.A. Aligianis; R.C. Trembath; J. Ainsworth; E.R. Maher; A.T. Moore; D.M. Hunt
Author Affiliations & Notes
  • S. Johnson
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • M. Michaelides
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • I.A. Aligianis
    Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, United Kingdom
  • R.C. Trembath
    Departments of Medicine and Genetics, University of Leicester, Leicester, United Kingdom
  • J. Ainsworth
    Department of Ophthalmology, Birmingham Children's Hospital, Birmingham, United Kingdom
  • E.R. Maher
    Department of Ophthalmology, Birmingham Children's Hospital, Birmingham, United Kingdom
  • A.T. Moore
    Department of Ophthalmology, Birmingham Children's Hospital, Birmingham, United Kingdom
  • D.M. Hunt
    Department of Ophthalmology, Birmingham Children's Hospital, Birmingham, United Kingdom
  • Footnotes
    Commercial Relationships  S. Johnson, None; M. Michaelides, None; I.A. Aligianis, None; R.C. Trembath, None; J. Ainsworth, None; E.R. Maher, None; A.T. Moore, None; D.M. Hunt, None.
  • Footnotes
    Support  British RP Society (GR521)
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 2300. doi:
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      S. Johnson, M. Michaelides, I.A. Aligianis, R.C. Trembath, J. Ainsworth, E.R. Maher, A.T. Moore, D.M. Hunt; Achromatopsia Associated with Mutations in CNGA3 and CNGB3 . Invest. Ophthalmol. Vis. Sci. 2003;44(13):2300.

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Abstract

Abstract: : Purpose: To perform mutation analysis of the genes CNGA3 and CNGB3 in patients with achromatopsia. Methods: A panel of patients with achromatopsia was ascertained from two British clinical centres. The diagnosis was established via ophthalmological examination, electrodiagnostic testing and psychophysical assessment. Blood samples were taken for DNA extraction for use in mutation screening of CNGA3 and CNGB3. Results: Six novel mutations were found in CNGA3 and seven novel mutations in the gene CNGB3. In addition, previously described mutations in both of these genes were detected, including the 1148delC mutation, which is the most commonly detected mutation in CNGB3 to date. This mutation was also found most frequently in our panel of patients. Conclusions: We report novel mutations in both the CNGA3 and CNGB3 genes. Mutations in CNGB3 and CNGA3 are found to be equally prevalent in this panel of patients. In a panel of carefully ascertained patients with achromatopsia, these genes are found to be causative in 21 out of 23 families.

Keywords: candidate gene analysis • photoreceptors • signal transduction 
© 2003, 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 © 2025 Association for Research in Vision and Ophthalmology.
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