{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:00:29Z","timestamp":1791928829482,"version":"4.3.4"},"reference-count":33,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"14","license":[{"start":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T00:00:00Z","timestamp":1733443200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2024,12,6]]},"DOI":"10.1167\/iovs.65.14.16","type":"journal-article","created":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T10:30:53Z","timestamp":1733481053000},"page":"16","source":"Crossref","is-referenced-by-count":1,"title":["Onset and Progression of Disease in Nonhuman Primates With PDE6C Cone Disorder"],"prefix":"10.1167","volume":"65","author":[{"given":"Monica","family":"Ardon","sequence":"first","affiliation":[{"name":"Department of Ophthalmology & Vision Science, School of Medicine, University of California Davis, Sacramento, California, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lily","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology & Vision Science, School of Medicine, University of California Davis, Sacramento, California, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Chen","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States"},{"name":"Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Rogers","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Stout","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Thomasy","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology & Vision Science, School of Medicine, University of California Davis, Sacramento, California, United States"},{"name":"Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California-Davis, Davis, California, United States"},{"name":"California National Primate Research Center, Davis, California, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ala","family":"Moshiri","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology & Vision Science, School of Medicine, University of California Davis, Sacramento, California, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"bib2","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1016\/j.ophtha.2013.08.017","article-title":"Retinal structure and function in achromatopsia: implications for gene therapy","volume":"121","author":"Sundaram","year":"2014","journal-title":"Ophthalmology"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"3864","DOI":"10.1167\/iovs.06-1521","article-title":"CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function","volume":"48","author":"Khan","year":"2007","journal-title":"Invest Opthalmol Vis Sci"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"5112","DOI":"10.1167\/iovs.19-27761","article-title":"Deep phenotyping of PDE6C-associated achromatopsia","volume":"60","author":"Georgiou","year":"2019","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib5","doi-asserted-by":"publisher","first-page":"1366","DOI":"10.1002\/humu.23606","article-title":"Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia","volume":"39","author":"Weisschuh","year":"2018","journal-title":"Hum Mutat"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1080\/13816810.2017.1418389","article-title":"Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options","volume":"39","author":"Hirji","year":"2018","journal-title":"Ophthalmic Genet"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1093\/hmg\/ddq517","article-title":"Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia","volume":"20","author":"Grau","year":"2011","journal-title":"Hum Mol Genet"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1172\/JCI123980","article-title":"A nonhuman primate model of inherited retinal disease","volume":"129","author":"Moshiri","year":"2019","journal-title":"J Clin Invest"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"6340","DOI":"10.1167\/iovs.14-14910","article-title":"Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials","volume":"55","author":"Aboshiha","year":"2014","journal-title":"Invest Opthalmol Vis Sci"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"1681","DOI":"10.3390\/ijms22041681","article-title":"Clinical and molecular characterization of achromatopsia patients: a longitudinal study","volume":"22","author":"Brunetti-Pierri","year":"2021","journal-title":"Int J Mol Sci"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"5952","DOI":"10.1167\/iovs.10-5680","article-title":"Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography","volume":"51","author":"Thiadens","year":"2010","journal-title":"Invest Opthalmol Vis Sci"},{"key":"bib12","doi-asserted-by":"publisher","first-page":"941","DOI":"10.3390\/cimb43020067","article-title":"Disease progression in CNGA3 and CNGB3 retinopathy; characteristics of Slovenian cohort and proposed OCT staging based on pooled data from 126 patients from 7 studies","volume":"43","author":"Tekavcic Pompe","year":"2021","journal-title":"Curr Issues Mol Biol"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"5735","DOI":"10.1167\/iovs.18-25452","article-title":"Longitudinal assessment of retinal structure in achromatopsia patients with long-term follow-up","volume":"59","author":"Hirji","year":"2018","journal-title":"Invest Opthalmol Vis Sci"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1167\/iovs.61.12.1","article-title":"PDE6C: novel mutations, atypical phenotype, and differences among children and adults","volume":"61","author":"Daich Varela","year":"2020","journal-title":"Invest Opthalmol Vis Sci"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1111\/j.1755-3768.1991.tb02048.x","article-title":"Electroretinograms in patients with achromatopsia","volume":"69","author":"Andr\u00e9asson","year":"1991","journal-title":"Acta Ophthalmol (Copenh)"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1167\/tvst.10.6.7","article-title":"Advanced retinal imaging and ocular parameters of the rhesus macaque eye","volume":"10","author":"Lin","year":"2021","journal-title":"Transl Vis Sci Technol"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1159\/000512284","article-title":"Two novel disease-causing variants in the PDE6C gene underlying achromatopsia","volume":"12","author":"Madeira","year":"2021","journal-title":"Case Rep Ophthalmol"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"2631","DOI":"10.1167\/iovs.19-27047","article-title":"Characterization of retinal structure in ATF6-associated achromatopsia","volume":"60","author":"Mastey","year":"2019","journal-title":"Invest Opthalmol Vis Sci"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"e136041","DOI":"10.1172\/jci.insight.136041","article-title":"Multiexon deletion alleles of ATF6 linked to achromatopsia","volume":"5","author":"Lee","year":"2020","journal-title":"JCI Insight"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1016\/j.ajhg.2012.07.006","article-title":"A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia","volume":"91","author":"Kohl","year":"2012","journal-title":"Am J Hum Genet"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"NP133","DOI":"10.1177\/11206721221093023","article-title":"A new mutation in the PDE6C gene in achromatopsia","volume":"33","author":"Jim\u00e9nez-Siles","year":"2023","journal-title":"Eur J Ophthalmol"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"2145","DOI":"10.1016\/j.ophtha.2015.03.033","article-title":"Retinal development in infants and young children with achromatopsia","volume":"122","author":"Lee","year":"2015","journal-title":"Ophthalmology"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"19581","DOI":"10.1073\/pnas.0907720106","article-title":"A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene","volume":"106","author":"Chang","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"3604","DOI":"10.1002\/cne.22416","article-title":"cGMP-dependent cone photoreceptor degeneration in the cpfl1 mouse retina","volume":"518","author":"Trifunovic","year":"2010","journal-title":"J Comp Neurol"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1016\/S0042-6989(01)00146-8","article-title":"Retinal degeneration mutants in the mouse","volume":"42","author":"Chang","year":"2002","journal-title":"Vision Res"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"13866","DOI":"10.1523\/JNEUROSCI.3136-07.2007","article-title":"A mutation in the cone-specific pde6 gene causes rapid cone photoreceptor degeneration in zebrafish","volume":"27","author":"Stearns","year":"2007","journal-title":"J Neurosci"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/j.cellsig.2017.06.002","article-title":"Mechanisms of mutant PDE6 proteins underlying retinal diseases","volume":"37","author":"Gopalakrishna","year":"2017","journal-title":"Cell Signal"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"3530","DOI":"10.1167\/iovs.05-0248","article-title":"Activation of multiple pathways during photoreceptor apoptosis in the rd mouse","volume":"46","author":"Doonan","year":"2005","journal-title":"Invest Opthalmol Vis Sci"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1093\/hmg\/ddq539","article-title":"A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa","volume":"20","author":"Paquet-Durand","year":"2011","journal-title":"Hum Mol Genet"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"1511","DOI":"10.1097\/IAE.0000000000000527","article-title":"Directional optical coherence tomography provides accurate outer nuclear layer and Henle fiber layer measurements","volume":"35","author":"Lujan","year":"2015","journal-title":"Retina"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"1603","DOI":"10.1167\/iovs.12-11286","article-title":"Abnormal thickening as well as thinning of the photoreceptor layer in intermediate age-related macular degeneration","volume":"54","author":"Sadigh","year":"2013","journal-title":"Invest Opthalmol Vis Sci"},{"key":"bib33","first-page":"3830","article-title":"Gene augmentation therapy restores cone function in PDE6c-acciocated achromatopsia","volume":"64","author":"Teng","year":"2023","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib1","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1007\/978-1-4419-1399-9_73","article-title":"Achromatopsia as a potential candidate for gene therapy","volume-title":"Retinal Degenerative Diseases","author":"Pang","year":"2010"},{"key":"bib24","first-page":"593","article-title":"Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant \u2013 a model of cone dystrophies","volume-title":"Adv Exp Med Biol","author":"Fischer","year":"2010"}],"container-title":["Investigative Ophthalmology & Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2802331","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:48Z","timestamp":1791927108000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2802331"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,6]]},"references-count":33,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2024,12,2]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.65.14.16","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2024,12,6]]}}}