Blinded by the light: A nonhuman primate model of achromatopsia

Academic Article


  • © 2018 American Society for Clinical Investigation.All right reserved. Achromatopsia is an inherited retinal degeneration characterized by the loss of cone photoreceptor function. In this issue of the JCI, Moshiri et al. characterize a naturally occurring model of the disease in the rhesus macaque caused by homozygous mutations in the phototransduction enzyme PDE6C. Using retinal imaging, and electrophysiologic and biochemical methods, the authors report a clinical phenotype nearly identical to the human condition. These findings represent the first genetic nonhuman primate model of an inherited retinal disease, and provide an ideal testing ground for the development of novel gene replacement, gene editing, and cell replacement therapies for cone dystrophies.
  • Authors

    Published In

    Digital Object Identifier (doi)

    Pubmed Id

  • 21099351
  • Author List

  • Uyhazi KE; Bennett J
  • Start Page

  • 513
  • End Page

  • 515
  • Volume

  • 129
  • Issue

  • 2