Mutations in the Human Retinal Degeneration Slow (RDS) Gene Can Cause Either Retinitis Pigmentosa or Macular Dystrophy

  • John Wells
  • John Wroblewski
  • Jeffrey Keen
  • Christopher Inglehearn
  • Christopher Jubb
  • Anja Eckstein
  • Marcelle Jay
  • Geoffrey Arden
  • Shomi Bhattacharya
  • Fred Fitzke
  • Alan Bird
Chapter

Summary

Mutations in the RDS gene have been sought in families with autosomal dominant retinal dystrophies. A cysteine deletion at codon 118/119 is associated with retinitis pigmentosa in one. Three families with similar macular dystrophy have mutations at codon 172, arginine being substituted by tryptophan in two and by glutamine in one. A stop sequence at codon 258 exists in a family with adult vitelliform macular dystrophy. These findings demonstrate that both retinitis pigmentosa and macular dystrophies are caused by mutations in the RDS gene, and that the functional significance of certain amino-acids in peripherin-rds may be different in cones and rods.

Keywords

Retinal Pigment Epithelium Retinitis Pigmentosa Retinal Degeneration Disc Membrane Photoreceptor Outer Segment 
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 1993

Authors and Affiliations

  • John Wells
    • 1
  • John Wroblewski
    • 1
  • Jeffrey Keen
    • 2
  • Christopher Inglehearn
    • 2
  • Christopher Jubb
    • 3
  • Anja Eckstein
    • 4
  • Marcelle Jay
    • 1
  • Geoffrey Arden
    • 4
  • Shomi Bhattacharya
    • 2
  • Fred Fitzke
    • 3
  • Alan Bird
    • 1
  1. 1.Department of Clinical OphthalmologyUK
  2. 2.Department of Molecular BiologyUK
  3. 3.Department of Visual ScienceInstitute of OphthalmologyLondonUK
  4. 4.The Electrodiagnostic DepartmentMoorfields Eye HospitalUK

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