{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:58:58Z","timestamp":1791928738395,"version":"4.3.4"},"reference-count":61,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"3","license":[{"start":{"date-parts":[[2020,3,23]],"date-time":"2020-03-23T00:00:00Z","timestamp":1584921600000},"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":[[2020,3,23]]},"DOI":"10.1167\/iovs.61.3.40","type":"journal-article","created":{"date-parts":[[2020,3,23]],"date-time":"2020-03-23T18:30:59Z","timestamp":1584988259000},"page":"40","source":"Crossref","is-referenced-by-count":38,"title":["Photoreceptor Structure in\n                    <i>GNAT2<\/i>\n                    -Associated Achromatopsia"],"prefix":"10.1167","volume":"61","author":[{"given":"Michalis","family":"Georgiou","sequence":"first","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London, United Kingdom"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Navjit","family":"Singh","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London, United Kingdom"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Kane","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London, United Kingdom"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony G.","family":"Robson","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London, United Kingdom"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelos","family":"Kalitzeos","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London, United Kingdom"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nashila","family":"Hirji","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London, United Kingdom"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Webster","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London, United Kingdom"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Dubra","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Stanford University, Palo Alto, California, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Carroll","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin,United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College London, London, United Kingdom"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1136\/jmg.39.9.656","article-title":"Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)","volume":"39","author":"Aligianis","year":"2002","journal-title":"J Med Genet"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1086\/341835","article-title":"Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia","volume":"71","author":"Kohl","year":"2002","journal-title":"Am J Hum Genet"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"4256","DOI":"10.1167\/iovs.04-0317","article-title":"Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations","volume":"45","author":"Rosenberg","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"1930","DOI":"10.1167\/iovs.13-13682","article-title":"Visual consequences of molecular changes in the guanylate cyclase-activating protein","volume":"55","author":"Stockman","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib5","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":"bib6","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1007\/s10384-016-0484-7","article-title":"In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant","volume":"61","author":"Ueno","year":"2017","journal-title":"Jpn J Ophthalmol"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"1317","DOI":"10.1136\/bjo.87.11.1317","article-title":"Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2)","volume":"87","author":"Michaelides","year":"2003","journal-title":"Br J Ophthalmol"},{"key":"bib8","first-page":"1145","article-title":"Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene","volume":"40","author":"Felden","year":"2019","journal-title":"Hum Mutat"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1038\/jhg.2010.128","article-title":"Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene","volume":"56","author":"Ouechtati","year":"2011","journal-title":"J Hum Genet"},{"key":"bib10","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":"bib11","doi-asserted-by":"publisher","first-page":"5733","DOI":"10.1167\/iovs.14-14937","article-title":"A prospective longitudinal study of retinal structure and function in achromatopsia","volume":"55","author":"Aboshiha","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib12","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1136\/bjophthalmol-2017-311328","article-title":"Adaptive optics imaging of inherited retinal diseases","volume":"102","author":"Georgiou","year":"2018","journal-title":"Br J Ophthalmol"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1038\/eye.2010.221","article-title":"Imaging retinal mosaics in the living eye","volume":"25","author":"Rossi","year":"2011","journal-title":"Eye (Lond)"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"2884","DOI":"10.1364\/JOSAA.14.002884","article-title":"Supernormal vision and high-resolution retinal imaging through adaptive optics","volume":"14","author":"Liang","year":"1997","journal-title":"J Opt Soc Am A Opt Image Sci Vis"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"1864","DOI":"10.1364\/BOE.2.001864","article-title":"Noninvasive imaging of the human rod photoreceptor mosaic using a confocal adaptive optics scanning ophthalmoscope","volume":"2","author":"Dubra","year":"2011","journal-title":"Biomed Opt Express"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1146\/annurev-vision-082114-035357","article-title":"Adaptive optics ophthalmoscopy","volume":"1","author":"Roorda","year":"2015","journal-title":"Annu Rev Vis Sci"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1167\/2.5.4","article-title":"Optical fiber properties of individual human cones","volume":"2","author":"Roorda","year":"2002","journal-title":"J Vis"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"2564","DOI":"10.1016\/j.visres.2008.04.006","article-title":"In vivo imaging of the photoreceptor mosaic of a rod monochromat","volume":"48","author":"Carroll","year":"2008","journal-title":"Vision Res"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"7298","DOI":"10.1167\/iovs.11-7762","article-title":"Photoreceptor structure and function in patients with congenital achromatopsia","volume":"52","author":"Genead","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"7303","DOI":"10.1167\/iovs.14-14225","article-title":"Genotype-dependent variability in residual cone structure in achromatopsia: Toward developing metrics for assessing cone health","volume":"55","author":"Dubis","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"2189","DOI":"10.1364\/BOE.2.002189","article-title":"Observation of cone and rod photoreceptors in normal subjects and patients using a new generation adaptive optics scanning laser ophthalmoscope","volume":"2","author":"Merino","year":"2011","journal-title":"Biomed Opt Express"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1167\/iovs.18-25880","article-title":"Adaptive optics retinal imaging in CNGA3-associated achromatopsia: Retinal characterization, interocular symmetry, and intrafamilial variability","volume":"60","author":"Georgiou","year":"2019","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib23","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 Ophthalmol Vis Sci"},{"issue":"(15)","key":"bib24","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":"bib25","doi-asserted-by":"publisher","first-page":"4244","DOI":"10.1167\/iovs.14-14542","article-title":"In vivo imaging of human cone photoreceptor inner segments","volume":"55","author":"Scoles","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1007\/978-3-319-17121-0","article-title":"Reliability and repeatability of cone density measurements in patients with congenital achromatopsia","volume":"854","author":"Abozaid","year":"2016","journal-title":"Adv Exp Med Biol"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"1956-1966","DOI":"10.1097\/IAE.0000000000001434","article-title":"Repeatability and longitudinal assessment of foveal cone structure in CNGB3-associated achromatopsia","volume":"37","author":"Langlo","year":"2017","journal-title":"Retina"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"3984","DOI":"10.1167\/iovs.16-19313","article-title":"Residual foveal cone structure in CNGB3-associated achromatopsia","volume":"57","author":"Langlo","year":"2016","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/j.exer.2018.02.024","article-title":"Loss of cone function without degeneration in a novel Gnat2 knock-out mouse","volume":"171","author":"Ronning","year":"2018","journal-title":"Exp Eye Res"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"3350","DOI":"10.1167\/iovs.13-11831","article-title":"A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype","volume":"54","author":"Jobling","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"5017","DOI":"10.1167\/iovs.05-1468","article-title":"Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2","volume":"47","author":"Chang","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1038\/nm1596","article-title":"Restoration of cone vision in a mouse model of achromatopsia","volume":"13","author":"Alexander","year":"2007","journal-title":"Nat Med"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"1366-1371","DOI":"10.1002\/humu.2018.39.issue-10","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":"bib34","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.ajhg.2016.12.003","article-title":"Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease","volume":"100","author":"Carss","year":"2017","journal-title":"Am J Hum Genet"},{"key":"bib35","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.ajo.2017.03.012","article-title":"Quantitative analysis of retinal structure using spectral-domain optical coherence tomography in RPGR-associated retinopathy","volume":"178","author":"Tee","year":"2017","journal-title":"Am J Ophthalmol"},{"key":"bib36","doi-asserted-by":"publisher","first-page":"1757","DOI":"10.1364\/BOE.2.001757","article-title":"Reflective afocal broadband adaptive optics scanning ophthalmoscope","volume":"2","author":"Dubra","year":"2011","journal-title":"Biomed Opt Express"},{"key":"bib37","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1167\/tvst.6.2.9","article-title":"An automated reference frame selection (ARFS) algorithm for cone imaging with adaptive optics scanning light ophthalmoscopy","volume":"6","author":"Salmon","year":"2017","journal-title":"Transl Vis Sci Technol"},{"key":"bib39","doi-asserted-by":"publisher","first-page":"4317","DOI":"10.1364\/BOE.9.004317","article-title":"Fast adaptive optics scanning light ophthalmoscope retinal montaging","volume":"9","author":"Davidson","year":"2018","journal-title":"Biomedical Optics Express"},{"key":"bib40","doi-asserted-by":"publisher","first-page":"1420","DOI":"10.1167\/iovs.18-25904","article-title":"A 2-year longitudinal study of normal cone photoreceptor density","volume":"60","author":"Jackson","year":"2019","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib41","doi-asserted-by":"publisher","first-page":"1358","DOI":"10.1364\/JOSAA.24.001358","article-title":"Automated identification of cone photoreceptors in adaptive optics retinal images","volume":"24","author":"Li","year":"2007","journal-title":"J Opt Soc Am A Opt Image Sci Vis"},{"key":"bib42","doi-asserted-by":"publisher","first-page":"632","DOI":"10.1097\/OPX.0b013e3182540562","article-title":"Repeatability of in vivo parafoveal cone density and spacing measurements","volume":"89","author":"Garrioch","year":"2012","journal-title":"Optom Vis Sci"},{"key":"bib43","doi-asserted-by":"publisher","first-page":"2992","DOI":"10.1167\/iovs.16-19072","article-title":"Evaluating descriptive metrics of the human cone mosaic","volume":"57","author":"Cooper","year":"2016","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib44","doi-asserted-by":"publisher","first-page":"3413","DOI":"10.1016\/S0042-6989(98)00094-7","article-title":"Colour discrimination ellipses in patients with dominant optic atrophy","volume":"38","author":"Simunovic","year":"1998","journal-title":"Vision Res"},{"key":"bib45","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1167\/iovs.17-22905","article-title":"Severe loss of Tritan color discrimination in RPE65 associated Leber congenital amaurosis","volume":"59","author":"Kumaran","year":"2018","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib46","doi-asserted-by":"publisher","first-page":"8006","DOI":"10.1167\/iovs.12-11087","article-title":"The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic","volume":"53","author":"Carroll","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib47","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1167\/tvst.8.5.21","article-title":"Assessing the interocular symmetry of foveal outer nuclear layer thickness in achromatopsia","volume":"8","author":"Mastey","year":"2019","journal-title":"Transl Vis Sci Technol"},{"key":"bib48","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/0896-6273(89)90261-4","article-title":"Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina","volume":"3","author":"Lerea","year":"1989","journal-title":"Neuron"},{"issue":"8","key":"bib49","first-page":"1028","article-title":"Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy","volume":"102","author":"Gill","year":"2018","journal-title":"Br J Ophthalmol"},{"key":"bib50","doi-asserted-by":"crossref","first-page":"10711","DOI":"10.1016\/S0021-9258(18)99072-1","article-title":"Visual excitation and recovery","volume":"266","author":"Stryer","year":"1991","journal-title":"J Biol Chem"},{"key":"bib51","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1001\/jamaophthalmol.2014.685","article-title":"Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy","volume":"132","author":"Yang","year":"2014","journal-title":"JAMA Ophthalmol"},{"key":"bib52","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 Ophthalmol Vis Sci"},{"key":"bib53","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 Ophthalmol Vis Sci"},{"key":"bib54","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10633-014-9473-7","article-title":"ISCEV Standard for full-field clinical electroretinography (2015 update)","volume":"130","author":"McCulloch","year":"2015","journal-title":"Doc Ophthalmol"},{"key":"bib55","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10633-012-9353-y","article-title":"ISCEV standard for clinical pattern electroretinography (PERG): 2012 update","volume":"126","author":"Bach","year":"2013","journal-title":"Doc Ophthalmol"},{"key":"bib56","doi-asserted-by":"publisher","first-page":"2082","DOI":"10.1167\/iovs.05-1629","article-title":"Phenotypic variation in enhanced S-cone syndrome","volume":"49","author":"Audo","year":"2008","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib57","doi-asserted-by":"publisher","first-page":"3187","DOI":"10.1167\/iovs.18-26245","article-title":"Loss of foveal cone structure precedes loss of visual acuity in patients with rod-cone degeneration","volume":"60","author":"Bensinger","year":"2019","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib58","doi-asserted-by":"publisher","first-page":"1234","DOI":"10.1167\/iovs.18-25688","article-title":"Cone spacing correlates with retinal thickness and microperimetry in patients with inherited retinal degenerations","volume":"60","author":"Foote","year":"2019","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib59","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1097\/OPX.0b013e3182512b98","article-title":"Adaptive optics scanning laser ophthalmoscope-based microperimetry","volume":"89","author":"Tuten","year":"2012","journal-title":"Optom Vis Sci"},{"key":"bib60","doi-asserted-by":"publisher","first-page":"4431","DOI":"10.1167\/iovs.15-16547","article-title":"Normal perceptual sensitivity arising from weakly reflective cone photoreceptors","volume":"56","author":"Bruce","year":"2015","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib61","doi-asserted-by":"publisher","first-page":"778","DOI":"10.1167\/iovs.14-15576","article-title":"Adaptive optics microperimetry and OCT images show preserved function and recovery of cone visibility in macular telangiectasia type 2 retinal lesions","volume":"56","author":"Wang","year":"2015","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib38","doi-asserted-by":"crossref","DOI":"10.1007\/978-3-642-14366-3_6","article-title":"Registration of 2D images from fast scanning ophthalmic instruments","author":"Dubra","year":"WBIR 2010"}],"container-title":["Investigative Opthalmology &amp; Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2763548","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:19Z","timestamp":1791927079000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2763548"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,23]]},"references-count":61,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,3,9]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.61.3.40","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2020,3,23]]}}}