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Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated with the Ser 186TRP Mutation of Rhodopsin

  • K. Rüther
  • C. L. V. Ballestrem
  • A. Müller
  • S. Kremmer
  • A. Eckstein
  • E. Apfelstedt-Sylla
  • A. Gal
  • E. Zrenner

Abstract

To date more than 60 different heterozygous mutations of the rhodopsin gene have been identified and suggested to be causative in autosomal dominant retinitis pigmentosa (adRP). Here we report two families segregating for an inherited retinal degeneration with most likely autosomal dominant inheritance of the trait. In the first family, a novel heterozygous missense mutation of the rhodopsin gene, predicting a Serl 86Trp change in the protein, results in adRP with incomplete penetrance, as the 52-year-old grandmother, heterozygote for the mutation, does not show any clinical abnormalities whereas two other carriers suffer from retinal degeneration of moderate severity. In the second family, a novel point mutation in exon IV of the rhodopsin gene predicting the Gly284Ser alteration was identified. However, the mutation did not cosegregate with the disease phenotype in the family. Of the eight family members carrying this alteration, three have not shown any abnormality on clinical examination. More importantly, two clinically affected persons did not carry the rhodopsin alteration, which strongly suggests that the Gly284Ser change is non-pathogenic in the heterozygous state.

Keywords

Visual Field Retinitis Pigmentosa Retinal Degeneration Incomplete Penetrance Ocular Finding 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 1995

Authors and Affiliations

  • K. Rüther
    • 1
  • C. L. V. Ballestrem
    • 2
  • A. Müller
    • 2
  • S. Kremmer
    • 1
  • A. Eckstein
    • 1
  • E. Apfelstedt-Sylla
    • 1
  • A. Gal
    • 2
    • 3
  • E. Zrenner
    • 1
  1. 1.Universitäts- AugenklinikTübingenGermany
  2. 2.Institut für HumangenetikMedizinische UniversitätLübeckGermany
  3. 3.Institut für HumangenetikUniversitäts-Krankenhaus EppendorfHamburgGermany

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