{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:45:59Z","timestamp":1791978359989,"version":"4.4.0"},"reference-count":48,"publisher":"Oxford University Press (OUP)","issue":"18","license":[{"start":{"date-parts":[[2020,8,3]],"date-time":"2020-08-03T00:00:00Z","timestamp":1596412800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001311","name":"Ulverscroft Foundation","doi-asserted-by":"publisher","award":["5009\/5010"],"award-info":[{"award-number":["5009\/5010"]}],"id":[{"id":"10.13039\/501100001311","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001311","name":"Ulverscroft Foundation","doi-asserted-by":"publisher","award":["24NN181"],"award-info":[{"award-number":["24NN181"]}],"id":[{"id":"10.13039\/501100001311","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/J004189\/1"],"award-info":[{"award-number":["MR\/J004189\/1"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MRC\/N004566\/1"],"award-info":[{"award-number":["MRC\/N004566\/1"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MC_PC_17171"],"award-info":[{"award-number":["MC_PC_17171"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council","doi-asserted-by":"publisher","award":["#2018-ER6902-00"],"award-info":[{"award-number":["#2018-ER6902-00"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003669","name":"Korea Centers for Disease Control and Prevention","doi-asserted-by":"publisher","award":["2019IL0366"],"award-info":[{"award-number":["2019IL0366"]}],"id":[{"id":"10.13039\/501100003669","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005006","name":"Asan Institute for Life Sciences, Asan Medical Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005006","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute of Health Research","doi-asserted-by":"crossref","award":["ACF-2019-11-003"],"award-info":[{"award-number":["ACF-2019-11-003"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000272","name":"National Institute of Health Research","doi-asserted-by":"crossref","award":["CL-2017-11-003"],"award-info":[{"award-number":["CL-2017-11-003"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,11,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations. SLC38A8 is a putative glutamine transporter with strong expression within the photoreceptor layer in the retina. Previous studies have been limited due to lack of quantitative data on retinal development and nystagmus characteristics. In this multi-centre study, a custom-targeted next generation sequencing (NGS) gene panel was used to identify SLC38A8 mutations from a cohort of 511 nystagmus patients. We report 16 novel SLC38A8 mutations. The sixth transmembrane domain is most frequently disrupted by missense SLC38A8 mutations. Ninety percent of our cases were initially misdiagnosed as PAX6-related phenotype or ocular albinism prior to NGS. We characterized the retinal development in vivo in patients with SLC38A8 mutations using high-resolution optical coherence tomography. All patients had severe grades of arrested retinal development with lack of a foveal pit and no cone photoreceptor outer segment lengthening. Loss of foveal specialization features such as outer segment lengthening implies reduced foveal cone density, which contributes to reduced visual acuity. Unlike other disorders (such as albinism or PAX6 mutations) which exhibit a spectrum of foveal hypoplasia, SLC38A8 mutations have arrest of retinal development at an earlier stage resulting in a more under-developed retina and severe phenotype.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa166","type":"journal-article","created":{"date-parts":[[2020,8,3]],"date-time":"2020-08-03T10:22:20Z","timestamp":1596450140000},"page":"2989-3002","source":"Crossref","is-referenced-by-count":43,"title":["SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization"],"prefix":"10.1093","volume":"29","author":[{"given":"Helen J","family":"Kuht","sequence":"first","affiliation":[{"name":"The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester \u2013 RKCSB, PO Box 65, Leicester LE2 7LX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinu","family":"Han","sequence":"additional","affiliation":[{"name":"Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail D E","family":"Maconachie","sequence":"additional","affiliation":[{"name":"The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester \u2013 RKCSB, PO Box 65, Leicester LE2 7LX, UK"},{"name":"Academic Unit of Ophthalmology and Orthoptics, University of Sheffield, Sheffield S10 2RX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung Eun","family":"Park","sequence":"additional","affiliation":[{"name":"Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung-Tae","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"McLean","sequence":"additional","affiliation":[{"name":"The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester \u2013 RKCSB, PO Box 65, Leicester LE2 7LX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viral","family":"Sheth","sequence":"additional","affiliation":[{"name":"The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester \u2013 RKCSB, PO Box 65, Leicester LE2 7LX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Hisaund","sequence":"additional","affiliation":[{"name":"The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester \u2013 RKCSB, PO Box 65, Leicester LE2 7LX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Basu","family":"Dawar","sequence":"additional","affiliation":[{"name":"The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester \u2013 RKCSB, PO Box 65, Leicester LE2 7LX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Sylvius","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Usman","family":"Mahmood","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hull and East Yorkshire Hospitals NHS Trust, Hull HU3 2JZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank A","family":"Proudlock","sequence":"additional","affiliation":[{"name":"The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester \u2013 RKCSB, PO Box 65, Leicester LE2 7LX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Gottlob","sequence":"additional","affiliation":[{"name":"The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester \u2013 RKCSB, PO Box 65, Leicester LE2 7LX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyun Taek","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mervyn G","family":"Thomas","sequence":"additional","affiliation":[{"name":"The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester \u2013 RKCSB, PO Box 65, Leicester LE2 7LX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,8,3]]},"reference":[{"key":"2020110605011954700_ref1","doi-asserted-by":"crossref","first-page":"1953","DOI":"10.1016\/j.ophtha.2018.08.003","article-title":"The phenotypic spectrum of albinism","volume":"125","author":"Kruijt","year":"2018","journal-title":"Ophthalmology"},{"key":"2020110605011954700_ref2","first-page":"2165","article-title":"A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1","volume":"19","author":"Al-Araimi","year":"2013","journal-title":"Mol. Vis."},{"key":"2020110605011954700_ref3","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1016\/j.ajhg.2013.11.002","article-title":"Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism","volume":"93","author":"Poulter","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"2020110605011954700_ref4","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1038\/ejhg.2013.212","article-title":"Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation","volume":"22","author":"Perez","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"2020110605011954700_ref5","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1002\/mgg3.266","article-title":"Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia","volume":"5","author":"Toral","year":"2017","journal-title":"Mol. Genet. Genomic Med."},{"key":"2020110605011954700_ref6","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/pcmr.12688","article-title":"Molecular characterization of a series of 990 index patients with albinism","volume":"31","author":"Lasseaux","year":"2018","journal-title":"Pigment Cell. Melanoma Res."},{"key":"2020110605011954700_ref7","doi-asserted-by":"crossref","first-page":"107958","DOI":"10.1016\/j.exer.2020.107958","article-title":"The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus","volume":"193","author":"Weiner","year":"2020","journal-title":"Exp. Eye Res."},{"key":"2020110605011954700_ref8","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1038\/sj.eye.6701508","article-title":"The prevalence and associated features of posterior embryotoxon in the general ophthalmic clinic","volume":"19","author":"Rennie","year":"2005","journal-title":"Eye (Lond.)"},{"key":"2020110605011954700_ref9","doi-asserted-by":"crossref","first-page":"3181","DOI":"10.1167\/iovs.18-24207","article-title":"Genotype and phenotype spectrum of FRMD7-associated infantile nystagmus syndrome","volume":"59","author":"Choi","year":"2018","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2020110605011954700_ref10","doi-asserted-by":"crossref","first-page":"4086","DOI":"10.1093\/hmg\/ddu122","article-title":"Abnormal retinal development associated with FRMD7 mutations","volume":"23","author":"Thomas","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"2020110605011954700_ref11","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":"2020110605011954700_ref12","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/ejhg.2013.162","article-title":"Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation","volume":"22","author":"Thomas","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"2020110605011954700_ref13","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1007\/s00417-018-4119-1","article-title":"Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease","volume":"256","author":"Yahalom","year":"2018","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"2020110605011954700_ref14","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/ejhg.2017.44","article-title":"Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing","volume":"25","author":"Thomas","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"2020110605011954700_ref15","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1001\/jamaophthalmol.2017.4859","article-title":"Accuracy of next-generation sequencing for molecular diagnosis in patients with infantile nystagmus syndrome","volume":"135","author":"Rim","year":"2017","journal-title":"JAMA Ophthalmol."},{"key":"2020110605011954700_ref16","first-page":"1","article-title":"A classification of eye movement abnormalities and strabismus (CEMAS)","author":"Hertle","year":"2001"},{"key":"2020110605011954700_ref17","doi-asserted-by":"crossref","first-page":"2306","DOI":"10.1167\/iovs.10-5685","article-title":"Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus","volume":"52","author":"Kumar","year":"2011","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2020110605011954700_ref18","first-page":"4080","article-title":"Periodic alternating nystagmus in humans with albinism","volume":"35","author":"Abadi","year":"1994","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2020110605011954700_ref19","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1093\/brain\/awq373","article-title":"The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus","volume":"134","author":"Thomas","year":"2011","journal-title":"Brain"},{"key":"2020110605011954700_ref20","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1167\/4.7.7","article-title":"Congenital nystagmus: hypotheses for its genesis and complex waveforms within a behavioral ocular motor system model","volume":"4","author":"Jacobs","year":"2004","journal-title":"J. Vis."},{"key":"2020110605011954700_ref21","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1001\/jamaophthalmol.2013.5833","article-title":"A unifying neurologic mechanism for infantile nystagmus","volume":"132","author":"Brodsky","year":"2014","journal-title":"JAMA Ophthalmol."},{"key":"2020110605011954700_ref22","doi-asserted-by":"crossref","first-page":"e3000174","DOI":"10.1371\/journal.pbio.3000174","article-title":"Nystagmus in patients with congenital stationary night blindness (CSNB) originates from synchronously firing retinal ganglion cells","volume":"17","author":"Winkelman","year":"2019","journal-title":"PLoS Biol."},{"key":"2020110605011954700_ref23","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1152\/jn.00437.2014","article-title":"Intrinsic bursting of AII amacrine cells underlies oscillations in the rd1 mouse retina","volume":"112","author":"Choi","year":"2014","journal-title":"J. Neurophysiol."},{"key":"2020110605011954700_ref24","doi-asserted-by":"crossref","first-page":"e86253","DOI":"10.1371\/journal.pone.0086253","article-title":"Network oscillations drive correlated spiking of ON and OFF ganglion cells in the rd1 mouse model of retinal degeneration","volume":"9","author":"Margolis","year":"2014","journal-title":"PLoS One"},{"key":"2020110605011954700_ref25","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1097\/00006324-200205000-00008","article-title":"Distribution of refractive errors in albinos and persons with idiopathic congenital nystagmus","volume":"79","author":"Sampath","year":"2002","journal-title":"Optom. Vis. Sci."},{"key":"2020110605011954700_ref26","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1167\/iovs.09-3599","article-title":"Onset and progression of with-the-rule astigmatism in children with infantile nystagmus syndrome","volume":"51","author":"Wang","year":"2010","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2020110605011954700_ref27","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":"2020110605011954700_ref28","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.visres.2016.10.012","article-title":"Evaluating outer segment length as a surrogate measure of peak foveal cone density","volume":"130","author":"Wilk","year":"2017","journal-title":"Vis. Res."},{"key":"2020110605011954700_ref29","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.ajo.2015.09.023","article-title":"Development of retinal layers in prenatal human retina","volume":"161","author":"Hendrickson","year":"2016","journal-title":"Am J. Ophthalmol."},{"key":"2020110605011954700_ref30","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":"2020110605011954700_ref31","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1001\/jamaophthalmol.2014.1715","article-title":"Concentric macular rings sign in patients with foveal hypoplasia","volume":"132","author":"Cornish","year":"2014","journal-title":"JAMA Ophthalmol."},{"key":"2020110605011954700_ref32","doi-asserted-by":"crossref","DOI":"10.1016\/j.oret.2020.03.022","article-title":"Multimodal imaging correlation of the concentric macular rings sign in foveal hypoplasia","volume-title":"Ophthalmol Retina","author":"Ramtohul","year":"2020"},{"key":"2020110605011954700_ref33","doi-asserted-by":"crossref","first-page":"1528","DOI":"10.1093\/brain\/awz098","article-title":"Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus","volume":"142","author":"Mayer","year":"2019","journal-title":"Brain"},{"key":"2020110605011954700_ref34","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"key":"2020110605011954700_ref35","first-page":"405","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Gen. Med."},{"key":"2020110605011954700_ref36","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/nprot.2010.5","article-title":"I-TASSER: a unified platform for automated protein structure and function prediction","volume":"5","author":"Roy","year":"2010","journal-title":"Nat. Protoc."},{"key":"2020110605011954700_ref37","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1093\/nar\/gkv342","article-title":"I-TASSER server: new development for protein structure and function predictions","volume":"43","author":"Yang","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"2020110605011954700_ref38","doi-asserted-by":"crossref","first-page":"2936","DOI":"10.1093\/bioinformatics\/btw361","article-title":"STRUM: structure-based prediction of protein stability changes upon single-point mutation","volume":"32","author":"Quan","year":"2016","journal-title":"Bioinformatics"},{"key":"2020110605011954700_ref39","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1016\/j.ophtha.2015.03.020","article-title":"High-resolution imaging of the optic nerve and retina in optic nerve hypoplasia","volume":"122","author":"Pilat","year":"2015","journal-title":"Ophthalmology"},{"key":"2020110605011954700_ref40","doi-asserted-by":"crossref","first-page":"e571","DOI":"10.1212\/WNL.0000000000005950","article-title":"Retinal and optic nerve changes in microcephaly: an optical coherence tomography study","volume":"91","author":"Papageorgiou","year":"2018","journal-title":"Neurology"},{"key":"2020110605011954700_ref41","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":"2020110605011954700_ref42","doi-asserted-by":"crossref","first-page":"16014","DOI":"10.1117\/1.JBO.19.1.016014","article-title":"Lateral and axial measurement differences between spectral-domain optical coherence tomography systems","volume":"19","author":"Folgar","year":"2014","journal-title":"J. Biomed. Opt."},{"key":"2020110605011954700_ref43","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1136\/bjophthalmol-2011-300476","article-title":"Is high-resolution spectral domain optical coherence tomography reliable in nystagmus?","volume":"97","author":"Thomas","year":"2013","journal-title":"Br. J. Ophthalmol."},{"key":"2020110605011954700_ref44","doi-asserted-by":"crossref","first-page":"4186","DOI":"10.1167\/iovs.13-13217","article-title":"Relationship between foveal cone specialization and pit morphology in albinism","volume":"55","author":"Wilk","year":"2014","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"4","key":"2020110605011954700_ref45","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1016\/j.ophtha.2019.10.037","article-title":"Can structural grading of foveal hypoplasia predict future vision in infantile nystagmus?: a longitudinal study","volume":"127","author":"Rufai","year":"2019","journal-title":"Ophthalmology"},{"key":"2020110605011954700_ref46","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10633-016-9553-y","article-title":"ISCEV standard for clinical visual evoked potentials: (2016 update)","volume":"133","author":"Odom","year":"2016","journal-title":"Doc. Ophthalmol."},{"key":"2020110605011954700_ref47","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/BF00578761","article-title":"Congenital nystagmus waveforms and foveation strategy","volume":"39","author":"Dell'Osso","year":"1975","journal-title":"Doc. Ophthalmol."},{"key":"2020110605011954700_ref48","doi-asserted-by":"crossref","first-page":"1616","DOI":"10.1016\/j.ophtha.2019.07.005","article-title":"Concentric macular rings sign in Chediak-Higashi syndrome","volume":"126","author":"Ramtohul","year":"2019","journal-title":"Ophthalmology"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddaa166\/33847198\/ddaa166.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/29\/18\/2989\/34124884\/ddaa166.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/29\/18\/2989\/34124884\/ddaa166.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,6]],"date-time":"2020-11-06T10:02:55Z","timestamp":1604656975000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/29\/18\/2989\/5879703"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,3]]},"references-count":48,"journal-issue":{"issue":"18","published-online":{"date-parts":[[2020,8,3]]},"published-print":{"date-parts":[[2020,11,4]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddaa166","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,9,15]]},"published":{"date-parts":[[2020,8,3]]}}}