{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T08:30:42Z","timestamp":1791189042707,"version":"4.1.0"},"reference-count":48,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Medical Research Council","award":["MR\/J004189\/1"],"award-info":[{"award-number":["MR\/J004189\/1"]}]},{"DOI":"10.13039\/501100001311","name":"Ulverscroft Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001311","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Institute for Health Research Biomedical Research Centre"},{"name":"NHS Foundation Trust and University College London"},{"name":"Moorfields Eye Hospital Special Trustees"},{"name":"F.F.B. Career Development Award"}],"content-domain":{"domain":["aaojournal.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmology"],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1016\/j.ophtha.2013.07.018","type":"journal-article","created":{"date-parts":[[2013,10,22]],"date-time":"2013-10-22T15:40:56Z","timestamp":1382456456000},"page":"2714-2724","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":62,"title":["Potential of Handheld Optical Coherence Tomography to Determine Cause of Infantile Nystagmus in Children by Using Foveal Morphology"],"prefix":"10.1016","volume":"120","author":[{"given":"Helena","family":"Lee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viral","family":"Sheth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mashal","family":"Bibi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail","family":"Maconachie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aarti","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca J.","family":"McLean","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mervyn G.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank A.","family":"Proudlock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Gottlob","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ophtha.2013.07.018_bib1","doi-asserted-by":"crossref","first-page":"2678","DOI":"10.1167\/iovs.09-4403","article-title":"Optimizing hand-held spectral domain optical coherence tomography imaging for neonates, infants, and children","volume":"51","author":"Maldonado","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2013.07.018_bib2","doi-asserted-by":"crossref","first-page":"2315","DOI":"10.1016\/j.ophtha.2011.05.028","article-title":"Dynamics of human foveal development after premature birth","volume":"118","author":"Maldonado","year":"2011","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2013.07.018_bib3","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/j.ajo.2012.05.004","article-title":"Maturation of the human fovea: correlation of spectral-domain optical coherence tomography findings with histology","volume":"154","author":"Vajzovic","year":"2012","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ophtha.2013.07.018_bib4","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1097\/IAE.0b013e31821dfa6d","article-title":"Macular features from spectral-domain optical coherence tomography as an adjunct to indirect ophthalmoscopy in retinopathy of prematurity","volume":"31","author":"Lee","year":"2011","journal-title":"Retina"},{"key":"10.1016\/j.ophtha.2013.07.018_bib5","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1001\/archopthalmol.2011.1846","article-title":"Spectral-domain optical coherence tomographic assessment of severity of cystoid macular edema in retinopathy of prematurity","volume":"130","author":"Maldonado","year":"2012","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ophtha.2013.07.018_bib6","doi-asserted-by":"crossref","first-page":"5183","DOI":"10.1167\/iovs.10-7155","article-title":"Understanding clinically undetected macular changes in early retinopathy of prematurity on spectral domain optical coherence tomography","volume":"52","author":"Vinekar","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2013.07.018_bib7","doi-asserted-by":"crossref","first-page":"2448","DOI":"10.1016\/j.ophtha.2009.06.003","article-title":"Insights into advanced retinopathy of prematurity using handheld spectral domain optical coherence tomography imaging","volume":"116","author":"Chavala","year":"2009","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2013.07.018_bib8","first-page":"72","article-title":"High-resolution retinal imaging in young children using a handheld scanner and Fourier-domain optical coherence tomography","volume":"13","author":"Gerth","year":"2009","journal-title":"J\u00a0AAPOS"},{"key":"10.1016\/j.ophtha.2013.07.018_bib9","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1038\/mt.2009.112","article-title":"AAV-mediated tyrosinase gene transfer restores melanogenesis and retinal function in a model of oculo-cutaneous albinism type I (OCA1)","volume":"17","author":"Gargiulo","year":"2009","journal-title":"Mol Ther"},{"key":"10.1016\/j.ophtha.2013.07.018_bib10","first-page":"e35250","article-title":"AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia","volume":"7","author":"Pang","year":"2012","journal-title":"PLoS One [serial online]"},{"key":"10.1016\/j.ophtha.2013.07.018_bib11","doi-asserted-by":"crossref","first-page":"3161","DOI":"10.1093\/hmg\/ddr218","article-title":"Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy","volume":"20","author":"Carvalho","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ophtha.2013.07.018_bib12","first-page":"627","article-title":"Spectral-domain optical coherence tomography in patients with congenital nystagmus","volume":"4","author":"Yang","year":"2011","journal-title":"Int J Ophthalmol"},{"key":"10.1016\/j.ophtha.2013.07.018_bib13","first-page":"563","article-title":"Spectral domain optical coherence tomography for detection of foveal morphology in patients with nystagmus","volume":"13","author":"Cronin","year":"2009","journal-title":"J\u00a0AAPOS"},{"key":"10.1016\/j.ophtha.2013.07.018_bib14","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1111\/j.1755-3768.2009.01533.x","article-title":"Optical coherence tomography is helpful in the diagnosis of foveal hypoplasia","volume":"88","author":"Holmstrom","year":"2010","journal-title":"Acta Ophthalmol"},{"key":"10.1016\/j.ophtha.2013.07.018_bib15","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1016\/j.ophtha.2010.08.053","article-title":"High-resolution in\u00a0vivo imaging in achromatopsia","volume":"118","author":"Thomas","year":"2011","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2013.07.018_bib16","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.1016\/j.ophtha.2011.01.037","article-title":"The functional significance of foveal abnormalities in albinism measured using spectral-domain optical coherence tomography","volume":"118","author":"Mohammad","year":"2011","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2013.07.018_bib17","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1016\/j.ophtha.2011.01.028","article-title":"Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?","volume":"118","author":"Thomas","year":"2011","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2013.07.018_bib18","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.1136\/bjophthalmol-2012-301737","article-title":"Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia","volume":"96","author":"Thomas","year":"2012","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.ophtha.2013.07.018_bib19","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/s10792-008-9215-5","article-title":"Isolated foveal hypoplasia","volume":"29","author":"Querques","year":"2009","journal-title":"Int Ophthalmol"},{"key":"10.1016\/j.ophtha.2013.07.018_bib20","doi-asserted-by":"crossref","first-page":"2054.e1","DOI":"10.1016\/j.ophtha.2006.05.046","article-title":"High-definition and 3-dimensional imaging of macular pathologies with high-speed ultrahigh-resolution optical coherence tomography [report online]","volume":"113","author":"Srinivasan","year":"2006","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2013.07.018_bib21","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.ajo.2008.05.018","article-title":"A\u00a0pilot study of Fourier-domain optical coherence tomography of retinal dystrophy patients","volume":"146","author":"Lim","year":"2008","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ophtha.2013.07.018_bib22","doi-asserted-by":"crossref","first-page":"9703","DOI":"10.1167\/iovs.11-8650","article-title":"The inner segment\/outer segment border seen on optical coherence tomography is less intense in patients with diminished cone function","volume":"52","author":"Hood","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2013.07.018_bib23","doi-asserted-by":"crossref","first-page":"7141","DOI":"10.1167\/iovs.11-7509","article-title":"Rod sensitivity, cone sensitivity, and photoreceptor layer thickness in retinal degenerative diseases","volume":"52","author":"Birch","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2013.07.018_bib24","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1167\/iovs.07-1110","article-title":"Retinal laminar architecture in human retinitis pigmentosa caused by rhodopsin gene mutations","volume":"49","author":"Aleman","year":"2008","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2013.07.018_bib25","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1167\/iovs.06-0599","article-title":"RDH12 and RPE65, visual cycle genes causing Leber congenital amaurosis, differ in disease expression","volume":"48","author":"Jacobson","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2013.07.018_bib26","doi-asserted-by":"crossref","first-page":"77","DOI":"10.3109\/13816819209087608","article-title":"A\u00a0practical approach to albino diagnosis. VEP misrouting across the age span","volume":"13","author":"Apkarian","year":"1992","journal-title":"Ophthalmic Paediatr Genet"},{"key":"10.1016\/j.ophtha.2013.07.018_bib27","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/1750-1172-2-43","article-title":"Oculocutaneous albinism","volume":"2","author":"Gronskov","year":"2007","journal-title":"Orphanet J Rare Dis [serial online]"},{"key":"10.1016\/j.ophtha.2013.07.018_bib28","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/humu.10034","article-title":"New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene","volume":"19","author":"Oetting","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ophtha.2013.07.018_bib29","doi-asserted-by":"crossref","first-page":"2581","DOI":"10.1167\/iovs.08-2827","article-title":"Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations","volume":"50","author":"Hingorani","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2013.07.018_bib30","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/j.jcjo.2011.06.011","article-title":"Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia","volume":"46","author":"Gregory-Evans","year":"2011","journal-title":"Can J Ophthalmol"},{"key":"10.1016\/j.ophtha.2013.07.018_bib31","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/935","article-title":"Total colour blindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel","volume":"19","author":"Kohl","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2013.07.018_bib32","doi-asserted-by":"crossref","first-page":"2107","DOI":"10.1093\/hmg\/9.14.2107","article-title":"Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21","volume":"9","author":"Kohl","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ophtha.2013.07.018_bib33","doi-asserted-by":"crossref","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":"10.1016\/j.ophtha.2013.07.018_bib34","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.ajhg.2012.07.006","article-title":"A\u00a0nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia","volume":"91","author":"Kohl","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ophtha.2013.07.018_bib35","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1016\/j.ejpn.2012.02.010","article-title":"Infantile and acquired nystagmus in childhood","volume":"16","author":"Ehrt","year":"2012","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.ophtha.2013.07.018_bib36","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1038\/ng1893","article-title":"Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus","volume":"38","author":"Tarpey","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.ophtha.2013.07.018_bib37","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1111\/j.1444-0938.2006.00024.x","article-title":"Infantile nystagmus: current concepts in diagnosis and management","volume":"89","author":"Abel","year":"2006","journal-title":"Clin Exp Optom"},{"key":"10.1016\/j.ophtha.2013.07.018_bib38","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/S0161-6420(84)34247-6","article-title":"The morphological development of the human fovea","volume":"91","author":"Hendrickson","year":"1984","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2013.07.018_bib39","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/eye.1992.15","article-title":"Genetic counselling in X-linked ocular albinism: clinical features of the carrier state","volume":"6","author":"Charles","year":"1992","journal-title":"Eye (Lond)"},{"key":"10.1016\/j.ophtha.2013.07.018_bib40","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1136\/bjo.78.7.539","article-title":"Carrier detection in X linked ocular albinism using linked DNA polymorphisms","volume":"78","author":"Charles","year":"1994","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.ophtha.2013.07.018_bib41","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s10633-009-9195-4","article-title":"ISCEV standard for clinical visual evoked potentials (2009 update)","volume":"120","author":"Odom","year":"2010","journal-title":"Doc Ophthalmol"},{"key":"10.1016\/j.ophtha.2013.07.018_bib42","doi-asserted-by":"crossref","first-page":"89","DOI":"10.3109\/13816819209087609","article-title":"Aspects of albinism","volume":"13","author":"Kriss","year":"1992","journal-title":"Ophthalmic Paediatr Genet"},{"key":"10.1016\/j.ophtha.2013.07.018_bib43","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/S0161-6420(13)31336-0","article-title":"Evoked potential analysis of visual pathways in human albinism","volume":"101","author":"Bouzas","year":"1994","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2013.07.018_bib44","first-page":"302","article-title":"Comparison of techniques for detecting visually evoked potential asymmetry in albinism","volume":"4","author":"Soong","year":"2000","journal-title":"J\u00a0AAPOS"},{"key":"10.1016\/j.ophtha.2013.07.018_bib45","first-page":"674","article-title":"Genetics of oculocutaneous albinism [in German]","volume":"104","author":"Zuhlke","year":"2007","journal-title":"Ophthalmologe"},{"key":"10.1016\/j.ophtha.2013.07.018_bib46","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1167\/iovs.11-8488","article-title":"Relationship between the foveal avascular zone and foveal pit morphology","volume":"53","author":"Dubis","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2013.07.018_bib47","doi-asserted-by":"crossref","first-page":"4093","DOI":"10.1167\/iovs.06-1165","article-title":"Acuity development in infantile nystagmus","volume":"48","author":"Weiss","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ophtha.2013.07.018_bib48","doi-asserted-by":"crossref","first-page":"1404","DOI":"10.1167\/iovs.09-4686","article-title":"Visual acuity development of children with infantile nystagmus syndrome","volume":"52","author":"Fu","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"}],"container-title":["Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642013006180?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642013006180?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T14:04:26Z","timestamp":1758981866000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0161642013006180"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":48,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["S0161642013006180"],"URL":"https:\/\/doi.org\/10.1016\/j.ophtha.2013.07.018","relation":{},"ISSN":["0161-6420"],"issn-type":[{"value":"0161-6420","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Potential of Handheld Optical Coherence Tomography to Determine Cause of Infantile Nystagmus in Children by Using Foveal Morphology","name":"articletitle","label":"Article Title"},{"value":"Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ophtha.2013.07.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}