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Blinded by the light: a nonhuman primate model of achromatopsia
Katherine E. Uyhazi, Jean Bennett
Katherine E. Uyhazi, Jean Bennett
Published January 22, 2019
Citation Information: J Clin Invest. 2019;129(2):513-515. https://doi.org/10.1172/JCI126205.
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Commentary Article has an altmetric score of 2

Blinded by the light: a nonhuman primate model of achromatopsia

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Abstract

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

Katherine E. Uyhazi, Jean Bennett

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