A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

Research output: Contribution to journalArticle


Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia. Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.


  • Bo Chang
  • Tanja Grau
  • Susann Dangel
  • Ron Hurd
  • Bernhard Jurklies
  • E. Cumhur Sener
  • Sten Andréasson
  • Helene Dollfus
  • Britta Baumann
  • Sylvia Bolz
  • Nikolai Artemyev
  • Susanne Kohl
  • John Heckenlively
  • Bernd Wissinger
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Ophthalmology


  • phosphodiesterase, cone photoreceptor, hereditary retinal disorder
Original languageEnglish
Pages (from-to)19581-19586
JournalProceedings of the National Academy of Sciences
Issue number46
Publication statusPublished - 2009
Publication categoryResearch