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Mutation in the PYK2-Binding Domain of PITPNM3 Causes Autosomal Dominant Cone Dystrophy (CORD5) in Two Swedish Families

  • Linda Köhn
  • Konstantin Kadzhaev
  • Marie S.I. Burstedt
  • Susann Haraldsson
  • Ola Sandgren
  • Irina Golovleva
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 613)

Progressive cone or cone-rod dystrophies (CORDs) characterized by a defective cone function demonstrate abnormalities in cone-mediated electroretinogram (ERG) components. The presenting symptoms are defective color vision, impaired central visual acuity and sensitivity to light (Small and Gehrs, 1996; van Ghelue et al., 2000). The inheritance patterns for CORDs are autosomal dominant, autosomal recessive and X-linked (Michaelides et al., 2005a). The preservation of rod function in CORDs can differ both between and within families and depends on the disease causing mutation within a gene (Small and Gehrs, 1996; Michaelides et al., 2005b).

Keywords

Retinal Degeneration Cone Dystrophy Swedish Family Retinal Degenerative Disease Q626H Mutation 
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, LLC 2008

Authors and Affiliations

  • Linda Köhn
    • 1
  • Konstantin Kadzhaev
    • 1
  • Marie S.I. Burstedt
    • 2
  • Susann Haraldsson
    • 1
  • Ola Sandgren
    • 2
  • Irina Golovleva
    • 1
  1. 1.Medical and Clinical Genetics, Department of Medical BiosciencesUmeå UniversityUmeåSweden
  2. 2.Department of Clinical Sciences, OphthalmologyUmeå UniversityUmeåSweden

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