Commentary 10.1172/JCI126205
Center for Advanced Retinal and Ocular Therapeutics, F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Address correspondence to: Jean Bennett, Center for Advanced Retinal and Ocular Therapeutics, Department of Ophthalmology, Perelman School of Medicine, 310 Stellar-Chance Laboratories, University of Pennsylvania, 422 Curie Boulevard, Philadelphia, Pennsylvania 19104, USA. Phone: 215.898.0915; Email: jebennet@pennmedicine.upenn.edu.
Find articles by Uyhazi, K. in: JCI | PubMed | Google Scholar
Center for Advanced Retinal and Ocular Therapeutics, F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Address correspondence to: Jean Bennett, Center for Advanced Retinal and Ocular Therapeutics, Department of Ophthalmology, Perelman School of Medicine, 310 Stellar-Chance Laboratories, University of Pennsylvania, 422 Curie Boulevard, Philadelphia, Pennsylvania 19104, USA. Phone: 215.898.0915; Email: jebennet@pennmedicine.upenn.edu.
Find articles by Bennett, J. in: JCI | PubMed | Google Scholar
First published January 22, 2019 - More info
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.
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