{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T11:10:52Z","timestamp":1779189052490,"version":"3.51.4"},"reference-count":64,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,10,6]],"date-time":"2020-10-06T00:00:00Z","timestamp":1601942400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,10,6]],"date-time":"2020-10-06T00:00:00Z","timestamp":1601942400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Institute for Vision Research, University of Iowa, Iowa City, IA"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Stargardt disease, the most common inherited macular dystrophy, is characterized by vision loss due to central retinal atrophy. Although clinical trials for Stargardt are currently underway, the disease is typically slowly progressive, and objective, imaging-based biomarkers are critically needed. In this retrospective, observational study, we characterize the thicknesses of individual retinal sublayers by macular optical coherence tomography (OCT) in a large cohort of patients with molecularly-confirmed, <jats:italic>ABCA4<\/jats:italic>-associated Stargardt disease (STGD1) relative to normal controls. Automated segmentation of retinal sublayers was performed with manual correction as needed, and thicknesses in various macular regions were compared using mixed effects models. Relative to controls (42 eyes, 40 patients), STGD1 patients (107 eyes, 63 patients) had slight thickening of the nerve fiber layer and retinal pigment epithelium-Bruch\u2019s membrane, with thinning in other sublayers, especially the outer nuclear layer (ONL) (p &lt; 0.0015). When comparing the rate of retinal sublayer thickness change over time (mean follow-up 3.9\u00a0years for STGD1, 2.5\u00a0years for controls), STGD1 retinas thinned faster than controls in the outer retina (ONL to photoreceptor outer segments).\u00a0OCT-based retinal sublayer thickness measurements are feasible in STGD1 patients and may provide objective measures of disease progression or treatment response.<\/jats:p>","DOI":"10.1038\/s41598-020-73645-5","type":"journal-article","created":{"date-parts":[[2020,10,6]],"date-time":"2020-10-06T10:04:27Z","timestamp":1601978667000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease"],"prefix":"10.1038","volume":"10","author":[{"given":"S. Scott","family":"Whitmore","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher R.","family":"Fortenbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Justine L.","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam P.","family":"DeLuca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. Brice","family":"Critser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth L.","family":"Geary","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremy M.","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edwin M.","family":"Stone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian C.","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,10,6]]},"reference":[{"issue":"1","key":"73645_CR1","doi-asserted-by":"publisher","first-page":"15939","DOI":"10.1038\/s41598-018-34380-0","volume":"8","author":"FL Motta","year":"2018","unstructured":"Motta, F. L., Martin, R. P., Filippelli-Silva, R., Salles, M. V. & Sallum, J. M. F. Relative frequency of inherited retinal dystrophies in Brazil. Sci. Rep. 8(1), 15939 (2018).","journal-title":"Sci. Rep."},{"issue":"9","key":"73645_CR2","doi-asserted-by":"publisher","first-page":"1314","DOI":"10.1016\/j.ophtha.2017.04.008","volume":"124","author":"EM Stone","year":"2017","unstructured":"Stone, E. M. et al. Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology 124(9), 1314\u20131331 (2017).","journal-title":"Ophthalmology"},{"issue":"1","key":"73645_CR3","first-page":"122","volume":"17","author":"R Allikmets","year":"1997","unstructured":"Allikmets, R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat. Genet. 17(1), 122 (1997).","journal-title":"Nat. Genet."},{"issue":"5","key":"73645_CR4","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1093\/hmg\/ddh048","volume":"13","author":"AV Cideciyan","year":"2004","unstructured":"Cideciyan, A. V. et al. Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: A reappraisal of the human disease sequence. Hum. Mol. Genet. 13(5), 525\u2013534 (2004).","journal-title":"Hum. Mol. Genet."},{"issue":"11","key":"73645_CR5","first-page":"2327","volume":"36","author":"FC Delori","year":"1995","unstructured":"Delori, F. C. et al. In vivo measurement of lipofuscin in Stargardt\u2019s disease-Fundus flavimaculatus. Investig. Ophthalmol. Vis. Sci. 36(11), 2327\u20132331 (1995).","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"73645_CR6","doi-asserted-by":"publisher","first-page":"925","DOI":"10.1038\/ncomms1927","volume":"3","author":"F Quazi","year":"2012","unstructured":"Quazi, F., Lenevich, S. & Molday, R. S. ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer. Nat. Commun. 3, 925 (2012).","journal-title":"Nat. Commun."},{"issue":"1","key":"73645_CR7","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/S0092-8674(00)80602-9","volume":"98","author":"J Weng","year":"1999","unstructured":"Weng, J. et al. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt\u2019s disease from the phenotype in abcr knockout mice. Cell 98(1), 13\u201323 (1999).","journal-title":"Cell"},{"issue":"8","key":"73645_CR8","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1007\/s00417-002-0502-y","volume":"240","author":"C Gerth","year":"2002","unstructured":"Gerth, C. et al. Phenotypes of 16 Stargardt macular dystrophy\/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. Graefes Arch. Clin. Exp. Ophthalmol. 240(8), 628\u2013638 (2002).","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"issue":"3","key":"73645_CR9","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1001\/archopht.119.3.359","volume":"119","author":"N Lois","year":"2001","unstructured":"Lois, N., Holder, G. E., Bunce, C., Fitzke, F. W. & Bird, A. C. Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Arch. Ophthalmol. 119(3), 359\u2013369 (2001).","journal-title":"Arch. Ophthalmol."},{"issue":"11","key":"73645_CR10","first-page":"2668","volume":"40","author":"N Lois","year":"1999","unstructured":"Lois, N., Holder, G. E., Fitzke, F. W., Plant, C. & Bird, A. C. Intrafamilial variation of phenotype in Stargardt macular dystrophy-fundus flavimaculatus. Investig. Ophthalmol. Vis. Sci. 40(11), 2668\u20132675 (1999).","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"issue":"12","key":"73645_CR11","doi-asserted-by":"publisher","first-page":"5227","DOI":"10.1167\/iovs.17-22532","volume":"58","author":"VC Greenstein","year":"2017","unstructured":"Greenstein, V. C. et al. A comparison of en face optical coherence tomography and fundus autofluorescence in Stargardt disease. Investig. Ophthalmol. Vis. Sci. 58(12), 5227\u20135236 (2017).","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"issue":"6","key":"73645_CR12","doi-asserted-by":"publisher","first-page":"1216","DOI":"10.1097\/IAE.0000000000000870","volume":"36","author":"L Kuehlewein","year":"2016","unstructured":"Kuehlewein, L. et al. Comparison of manual and semiautomated fundus autofluorescence analysis of macular atrophy in Stargardt disease phenotype. Retina 36(6), 1216\u20131221 (2016).","journal-title":"Retina"},{"issue":"1","key":"73645_CR13","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/j.ajo.2004.02.056","volume":"138","author":"N Lois","year":"2004","unstructured":"Lois, N., Halfyard, A. S., Bird, A. C., Holder, G. E. & Fitzke, F. W. Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus. Am. J. Ophthalmol. 138(1), 55\u201363 (2004).","journal-title":"Am. J. Ophthalmol."},{"key":"73645_CR14","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/j.ajo.2019.11.008","volume":"211","author":"M Georgiou","year":"2020","unstructured":"Georgiou, M. et al. Prospective cohort study of childhood-onset Stargardt disease: Fundus autofluorescence imaging, progression, comparison with adult-onset disease, and disease symmetry. Am. J. Ophthalmol. 211, 159\u2013175 (2020).","journal-title":"Am. J. Ophthalmol."},{"key":"73645_CR15","doi-asserted-by":"crossref","unstructured":"Strauss RW, Kong X, Ho A, et al. Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11. JAMA Ophthalmol. 2019.","DOI":"10.1001\/jamaophthalmol.2019.2885"},{"issue":"5","key":"73645_CR16","doi-asserted-by":"publisher","first-page":"735","DOI":"10.1016\/j.ophtha.2017.11.020","volume":"125","author":"KN Khan","year":"2018","unstructured":"Khan, K. N. et al. Early patterns of macular degeneration in ABCA4-associated retinopathy. Ophthalmology 125(5), 735\u2013746 (2018).","journal-title":"Ophthalmology"},{"issue":"2","key":"73645_CR17","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1167\/tvst.8.2.1","volume":"8","author":"P Tanna","year":"2019","unstructured":"Tanna, P. et al. Cross-sectional and longitudinal assessment of the ellipsoid zone in childhood-onset Stargardt disease. Transl. Vis. Sci. Technol. 8(2), 1 (2019).","journal-title":"Transl. Vis. Sci. Technol."},{"key":"73645_CR18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ajo.2017.10.032","volume":"186","author":"CX Cai","year":"2018","unstructured":"Cai, C. X., Light, J. G. & Handa, J. T. Quantifying the rate of ellipsoid zone loss in Stargardt disease. Am. J. Ophthalmol. 186, 1\u20139 (2018).","journal-title":"Am. J. Ophthalmol."},{"key":"73645_CR19","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.ajo.2019.02.007","volume":"202","author":"T Alabduljalil","year":"2019","unstructured":"Alabduljalil, T. et al. Correlation of outer retinal degeneration and choriocapillaris loss in Stargardt disease using en face optical coherence tomography and optical coherence tomography angiography. Am. J. Ophthalmol. 202, 79\u201390 (2019).","journal-title":"Am. J. Ophthalmol."},{"issue":"7","key":"73645_CR20","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1097\/IAE.0000000000001716","volume":"38","author":"S Arepalli","year":"2018","unstructured":"Arepalli, S., Traboulsi, E. I. & Ehlers, J. P. Ellipsoid zone mapping and outer retinal assessment in Stargardt disease. Retina 38(7), 1427\u20131431 (2018).","journal-title":"Retina"},{"issue":"13","key":"73645_CR21","doi-asserted-by":"publisher","first-page":"9581","DOI":"10.1167\/iovs.11-8554","volume":"52","author":"MA Lazow","year":"2011","unstructured":"Lazow, M. A. et al. Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP). Investig. Ophthalmol. Vis. Sci. 52(13), 9581\u20139590 (2011).","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"issue":"3","key":"73645_CR22","doi-asserted-by":"publisher","first-page":"1810","DOI":"10.1167\/iovs.13-13768","volume":"55","author":"WC Huang","year":"2014","unstructured":"Huang, W. C. et al. Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations. Investig. Ophthalmol. Vis. Sci. 55(3), 1810\u20131822 (2014).","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"issue":"4","key":"73645_CR23","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1038\/s41433-019-0599-4","volume":"34","author":"CM Harvey","year":"2020","unstructured":"Harvey, C. M. et al. Scleral pits represent degeneration around the posterior ciliary arteries and are signs of disease severity in choroideremia. Eye (Lond). 34(4), 746\u2013754 (2020).","journal-title":"Eye (Lond)."},{"issue":"6","key":"73645_CR24","doi-asserted-by":"publisher","first-page":"658","DOI":"10.1136\/bjo.86.6.658","volume":"86","author":"MF Roberts","year":"2002","unstructured":"Roberts, M. F. et al. Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia. Br. J. Ophthalmol. 86(6), 658\u2013662 (2002).","journal-title":"Br. J. Ophthalmol."},{"key":"73645_CR25","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1109\/RBME.2010.2084567","volume":"3","author":"MD Abramoff","year":"2010","unstructured":"Abramoff, M. D., Garvin, M. K. & Sonka, M. Retinal imaging and image analysis. IEEE Rev. Biomed. Eng. 3, 169\u2013208 (2010).","journal-title":"IEEE Rev. Biomed. Eng."},{"issue":"9","key":"73645_CR26","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.1109\/TMI.2009.2016958","volume":"28","author":"MK Garvin","year":"2009","unstructured":"Garvin, M. K. et al. Automated 3-D intraretinal layer segmentation of macular spectral-domain optical coherence tomography images. IEEE Trans. Med. Imaging 28(9), 1436\u20131447 (2009).","journal-title":"IEEE Trans. Med. Imaging"},{"issue":"8476","key":"73645_CR27","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1016\/S0140-6736(86)90837-8","volume":"1","author":"JM Bland","year":"1986","unstructured":"Bland, J. M. & Altman, D. G. Statistical methods for assessing agreement between two methods of clinical measurement. Lancet 1(8476), 307\u2013310 (1986).","journal-title":"Lancet"},{"issue":"1","key":"73645_CR28","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1186\/s12874-020-01022-x","volume":"20","author":"RA Parker","year":"2020","unstructured":"Parker, R. A., Scott, C., Inacio, V. & Stevens, N. T. Using multiple agreement methods for continuous repeated measures data: A tutorial for practitioners. BMC Med. Res. Methodol. 20(1), 154 (2020).","journal-title":"BMC Med. Res. Methodol."},{"issue":"12","key":"73645_CR29","doi-asserted-by":"publisher","first-page":"e0168321","DOI":"10.1371\/journal.pone.0168321","volume":"11","author":"RA Parker","year":"2016","unstructured":"Parker, R. A. et al. Application of mixed effects limits of agreement in the presence of multiple sources of variability: Exemplar from the comparison of several devices to measure respiratory rate in COPD patients. PLoS ONE 11(12), e0168321 (2016).","journal-title":"PLoS ONE"},{"issue":"3","key":"73645_CR30","doi-asserted-by":"publisher","first-page":"159","DOI":"10.3109\/09286586.2012.674614","volume":"19","author":"RJ Glynn","year":"2012","unstructured":"Glynn, R. J. & Rosner, B. Regression methods when the eye is the unit of analysis. Ophthalmic Epidemiol. 19(3), 159\u2013165 (2012).","journal-title":"Ophthalmic Epidemiol."},{"issue":"3","key":"73645_CR31","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1167\/tvst.8.3.46","volume":"8","author":"X Kong","year":"2019","unstructured":"Kong, X. et al. Reproducibility of measurements of retinal structural parameters using optical coherence tomography in Stargardt disease. Transl. Vis. Sci. Technol. 8(3), 46 (2019).","journal-title":"Transl. Vis. Sci. Technol."},{"issue":"2","key":"73645_CR32","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1167\/tvst.8.2.16","volume":"8","author":"AM Ervin","year":"2019","unstructured":"Ervin, A. M. et al. A Workshop on measuring the progression of atrophy secondary to Stargardt disease in the ProgStar studies: Findings and lessons learned. Transl. Vis. Sci. Technol. 8(2), 16 (2019).","journal-title":"Transl. Vis. Sci. Technol."},{"issue":"12","key":"73645_CR33","doi-asserted-by":"publisher","first-page":"2352","DOI":"10.1097\/IAE.0000000000001484","volume":"37","author":"JG Light","year":"2017","unstructured":"Light, J. G. et al. Stargardt disease: Beyond flecks and atrophy. Retina 37(12), 2352\u20132361 (2017).","journal-title":"Retina"},{"issue":"7","key":"73645_CR34","doi-asserted-by":"publisher","first-page":"1307","DOI":"10.1007\/s00417-017-3637-6","volume":"255","author":"T Verdina","year":"2017","unstructured":"Verdina, T. et al. Multimodal analysis of the preferred retinal location and the transition zone in patients with Stargardt disease. Graefes Arch. Clin. Exp. Ophthalmol. 255(7), 1307\u20131317 (2017).","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"issue":"5","key":"73645_CR35","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1136\/bjo.2010.189720","volume":"95","author":"MA Genead","year":"2011","unstructured":"Genead, M. A., Fishman, G. A. & Anastasakis, A. Spectral-domain OCT peripapillary retinal nerve fibre layer thickness measurements in patients with Stargardt disease. Br. J. Ophthalmol. 95(5), 689\u2013693 (2011).","journal-title":"Br. J. Ophthalmol."},{"issue":"2","key":"73645_CR36","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1016\/S0161-6420(97)30321-2","volume":"104","author":"S Grover","year":"1997","unstructured":"Grover, S., Fishman, G. A. & Brown, J. Jr. Frequency of optic disc or parapapillary nerve fiber layer drusen in retinitis pigmentosa. Ophthalmology 104(2), 295\u2013298 (1997).","journal-title":"Ophthalmology"},{"issue":"2","key":"73645_CR37","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1001\/archopht.1985.01050020083027","volume":"103","author":"A Puck","year":"1985","unstructured":"Puck, A., Tso, M. O. & Fishman, G. A. Drusen of the optic nerve associated with retinitis pigmentosa. Arch. Ophthalmol. 103(2), 231\u2013234 (1985).","journal-title":"Arch. Ophthalmol."},{"issue":"1","key":"73645_CR38","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0002-9394(14)76658-9","volume":"85","author":"WH Spencer","year":"1978","unstructured":"Spencer, W. H. Drusen of the optic disk and aberrant axoplasmic transport. The XXXIV Edward Jackson memorial lecture. Am. J. Ophthalmol. 85(1), 1\u201312 (1978).","journal-title":"Am. J. Ophthalmol."},{"issue":"10","key":"73645_CR39","doi-asserted-by":"publisher","first-page":"1653","DOI":"10.1007\/s00417-014-2773-5","volume":"252","author":"A Casado","year":"2014","unstructured":"Casado, A. et al. Measurement of retinal nerve fiber layer and macular ganglion cell-inner plexiform layer with spectral-domain optical coherence tomography in patients with optic nerve head drusen. Graefes Arch. Clin. Exp. Ophthalmol. 252(10), 1653\u20131660 (2014).","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"issue":"11","key":"73645_CR40","doi-asserted-by":"publisher","first-page":"1634","DOI":"10.1001\/archopht.1992.01080230134038","volume":"110","author":"JL Stone","year":"1992","unstructured":"Stone, J. L., Barlow, W. E., Humayun, M. S., de Juan, E. & Milam, A. H. Morphometric analysis of macular photoreceptors and ganglion cells in retinas with retinitis pigmentosa. Arch. Ophthalmol. 110(11), 1634\u20131639 (1992).","journal-title":"Arch. Ophthalmol."},{"issue":"18","key":"73645_CR41","doi-asserted-by":"publisher","first-page":"4649","DOI":"10.3390\/ijms20184649","volume":"20","author":"D Garcia-Ayuso","year":"2019","unstructured":"Garcia-Ayuso, D., Di Pierdomenico, J., Vidal-Sanz, M. & Villegas-Perez, M. P. Retinal ganglion cell death as a late remodeling effect of photoreceptor degeneration. Int. J. Mol. Sci. 20(18), 4649 (2019).","journal-title":"Int. J. Mol. Sci."},{"issue":"3","key":"73645_CR42","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1159\/000445063","volume":"56","author":"G Liu","year":"2016","unstructured":"Liu, G., Liu, X., Li, H., Du, Q. & Wang, F. Optical coherence tomographic analysis of retina in retinitis pigmentosa patients. Ophthalmic Res. 56(3), 111\u2013122 (2016).","journal-title":"Ophthalmic Res."},{"issue":"5","key":"73645_CR43","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1016\/S1350-9462(03)00039-9","volume":"22","author":"RE Marc","year":"2003","unstructured":"Marc, R. E., Jones, B. W., Watt, C. B. & Strettoi, E. Neural remodeling in retinal degeneration. Prog. Retin Eye Res. 22(5), 607\u2013655 (2003).","journal-title":"Prog. Retin Eye Res."},{"issue":"11","key":"73645_CR44","doi-asserted-by":"publisher","first-page":"1640","DOI":"10.1016\/j.ophtha.2017.04.026","volume":"124","author":"X Kong","year":"2017","unstructured":"Kong, X. et al. Visual acuity change over 12 months in the prospective progression of atrophy secondary to Stargardt disease (ProgStar) Study: ProgStar report number 6. Ophthalmology 124(11), 1640\u20131651 (2017).","journal-title":"Ophthalmology"},{"issue":"12","key":"73645_CR45","doi-asserted-by":"publisher","first-page":"8134","DOI":"10.1167\/iovs.14-14848","volume":"55","author":"T Duncker","year":"2014","unstructured":"Duncker, T. et al. Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease. Investig. Ophthalmol. Vis. Sci. 55(12), 8134\u20138143 (2014).","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"issue":"5","key":"73645_CR46","doi-asserted-by":"publisher","first-page":"3226","DOI":"10.1167\/iovs.14-16050","volume":"56","author":"VC Greenstein","year":"2015","unstructured":"Greenstein, V. C. et al. Near-infrared autofluorescence: Its relationship to short-wavelength autofluorescence and optical coherence tomography in recessive stargardt disease. Investig. Ophthalmol. Vis. Sci. 56(5), 3226\u20133234 (2015).","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"issue":"4","key":"73645_CR47","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1167\/iovs.61.4.36","volume":"61","author":"JS Sunness","year":"2020","unstructured":"Sunness, J. S., Ifrah, A., Wolf, R., Applegate, C. A. & Sparrow, J. R. Abnormal visual function outside the area of atrophy defined by short-wavelength fundus autofluorescence in Stargardt disease. Investig. Ophthalmol. Vis. Sci. 61(4), 36 (2020).","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"issue":"8","key":"73645_CR48","doi-asserted-by":"publisher","first-page":"1028","DOI":"10.1136\/bjophthalmol-2017-311328","volume":"102","author":"M Georgiou","year":"2018","unstructured":"Georgiou, M. et al. Adaptive optics imaging of inherited retinal diseases. Br. J. Ophthalmol. 102(8), 1028\u20131035 (2018).","journal-title":"Br. J. Ophthalmol."},{"key":"73645_CR49","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-vision-030320-041255","author":"DT Miller","year":"2020","unstructured":"Miller, D. T. & Kurokawa, K. Cellular scale imaging of transparent retinal structures and processes using adaptive optics optical coherence tomography. Annu. Rev. Vis. Sci. https:\/\/doi.org\/10.1146\/annurev-vision-030320-041255 (2020).","journal-title":"Annu. Rev. Vis. Sci."},{"issue":"6","key":"73645_CR50","doi-asserted-by":"publisher","first-page":"1057","DOI":"10.1007\/s00417-017-3619-8","volume":"255","author":"LJ Lu","year":"2017","unstructured":"Lu, L. J., Liu, J. & Adelman, R. A. Novel therapeutics for Stargardt disease. Graefes Arch. Clin. Exp. Ophthalmol. 255(6), 1057\u20131062 (2017).","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"issue":"5","key":"73645_CR51","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1167\/tvst.5.5.10","volume":"5","author":"MA Parker","year":"2016","unstructured":"Parker, M. A. et al. Test-retest variability of functional and structural parameters in patients with Stargardt disease participating in the SAR422459 gene therapy trial. Transl. Vis. Sci. Technol. 5(5), 10 (2016).","journal-title":"Transl. Vis. Sci. Technol."},{"issue":"4","key":"73645_CR52","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1136\/bjophthalmol-2019-315086","volume":"104","author":"N Rahman","year":"2020","unstructured":"Rahman, N., Georgiou, M., Khan, K. N. & Michaelides, M. Macular dystrophies: Clinical and imaging features, molecular genetics and therapeutic options. Br. J. Ophthalmol. 104(4), 451\u2013460 (2020).","journal-title":"Br. J. Ophthalmol."},{"issue":"9967","key":"73645_CR53","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1016\/S0140-6736(14)61376-3","volume":"385","author":"SD Schwartz","year":"2015","unstructured":"Schwartz, S. D. et al. Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt\u2019s macular dystrophy: Follow-up of two open-label phase 1\/2 studies. Lancet 385(9967), 509\u2013516 (2015).","journal-title":"Lancet"},{"issue":"1","key":"73645_CR54","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1136\/bjophthalmol-2016-308823","volume":"101","author":"P Tanna","year":"2017","unstructured":"Tanna, P., Strauss, R. W., Fujinami, K. & Michaelides, M. Stargardt disease: Clinical features, molecular genetics, animal models and therapeutic options. Br. J. Ophthalmol. 101(1), 25\u201330 (2017).","journal-title":"Br. J. Ophthalmol."},{"issue":"8","key":"73645_CR55","doi-asserted-by":"publisher","first-page":"920","DOI":"10.1001\/jamaophthalmol.2018.2198","volume":"136","author":"X Kong","year":"2018","unstructured":"Kong, X. et al. Visual acuity change over 24 months and its association with foveal phenotype and genotype in individuals with Stargardt disease: ProgStar study report no. 10. JAMA Ophthalmol. 136(8), 920\u2013928 (2018).","journal-title":"JAMA Ophthalmol."},{"key":"73645_CR56","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1016\/j.ajo.2018.06.003","volume":"193","author":"EM Schonbach","year":"2018","unstructured":"Schonbach, E. M. et al. Longitudinal changes of fixation location and stability within 12 months in Stargardt disease: ProgStar report no. 12. Am. J. Ophthalmol. 193, 54\u201361 (2018).","journal-title":"Am. J. Ophthalmol."},{"issue":"9","key":"73645_CR57","doi-asserted-by":"publisher","first-page":"1741","DOI":"10.1097\/IAE.0000000000001003","volume":"36","author":"A Bernstein","year":"2016","unstructured":"Bernstein, A., Sunness, J. S., Applegate, C. A. & Tegins, E. O. Mapping the dense scotoma and its enlargement in Stargardt disease. Retina 36(9), 1741\u20131750 (2016).","journal-title":"Retina"},{"issue":"1","key":"73645_CR58","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1016\/j.oret.2016.08.009","volume":"1","author":"EM Schonbach","year":"2017","unstructured":"Schonbach, E. M. et al. Fixation location and stability using the MP-1 microperimeter in Stargardt disease: ProgStar report no. 3. Ophthalmol. Retina 1(1), 68\u201376 (2017).","journal-title":"Ophthalmol. Retina"},{"issue":"6","key":"73645_CR59","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1167\/tvst.7.6.10","volume":"7","author":"P Tanna","year":"2018","unstructured":"Tanna, P. et al. Cross-sectional and longitudinal assessment of retinal sensitivity in patients with childhood-onset Stargardt disease. Transl. Vis. Sci. Technol. 7(6), 10 (2018).","journal-title":"Transl. Vis. Sci. Technol."},{"issue":"3","key":"73645_CR60","doi-asserted-by":"publisher","first-page":"e0174020","DOI":"10.1371\/journal.pone.0174020","volume":"12","author":"S Lambertus","year":"2017","unstructured":"Lambertus, S. et al. Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease. PLoS ONE 12(3), e0174020 (2017).","journal-title":"PLoS ONE"},{"issue":"2","key":"73645_CR61","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1016\/j.ajo.2009.03.006","volume":"148","author":"S Grover","year":"2009","unstructured":"Grover, S., Murthy, R. K., Brar, V. S. & Chalam, K. V. Normative data for macular thickness by high-definition spectral-domain optical coherence tomography (spectralis). Am. J. Ophthalmol. 148(2), 266\u2013271 (2009).","journal-title":"Am. J. Ophthalmol."},{"issue":"3","key":"73645_CR62","doi-asserted-by":"publisher","first-page":"e0194169","DOI":"10.1371\/journal.pone.0194169","volume":"13","author":"M Nieves-Moreno","year":"2018","unstructured":"Nieves-Moreno, M. et al. Impacts of age and sex on retinal layer thicknesses measured by spectral domain optical coherence tomography with Spectralis. PLoS ONE 13(3), e0194169 (2018).","journal-title":"PLoS ONE"},{"issue":"3","key":"73645_CR63","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1007\/s00417-018-04229-3","volume":"257","author":"SB Velaga","year":"2019","unstructured":"Velaga, S. B. et al. Impact of segmentation density on spectral domain optical coherence tomography assessment in Stargardt disease. Graefes Arch. Clin. Exp. Ophthalmol. 257(3), 549\u2013556 (2019).","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"issue":"8","key":"73645_CR64","doi-asserted-by":"publisher","first-page":"808","DOI":"10.1016\/j.oret.2017.12.012","volume":"2","author":"A Invernizzi","year":"2018","unstructured":"Invernizzi, A. et al. Normative data for retinal-layer thickness maps generated by spectral-domain OCT in a white population. Ophthalmol. Retina 2(8), 808\u2013815 (2018).","journal-title":"Ophthalmol. Retina"}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-020-73645-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-020-73645-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-020-73645-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,6]],"date-time":"2022-12-06T20:23:42Z","timestamp":1670358222000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-020-73645-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,6]]},"references-count":64,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,12]]}},"alternative-id":["73645"],"URL":"https:\/\/doi.org\/10.1038\/s41598-020-73645-5","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,6]]},"assertion":[{"value":"30 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 September 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 October 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"16576"}}