{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T16:34:39Z","timestamp":1766507679294,"version":"3.48.0"},"reference-count":97,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"12","license":[{"start":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T00:00:00Z","timestamp":1766448000000},"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":["Trans. Vis. Sci. Tech."],"published-print":{"date-parts":[[2025,12,23]]},"DOI":"10.1167\/tvst.14.12.23","type":"journal-article","created":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T14:30:49Z","timestamp":1766500249000},"page":"23","source":"Crossref","is-referenced-by-count":0,"title":["Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease"],"prefix":"10.1167","volume":"14","author":[{"given":"Aiden","family":"Zee","sequence":"first","affiliation":[{"name":"Cypress Bay High School, Weston, FL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Winston","family":"Lee","sequence":"additional","affiliation":[{"name":"Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA"},{"name":"Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei-Yin","family":"Su","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Zernant","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen H.","family":"Tsang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA"},{"name":"Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rando","family":"Allikmets","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA"},{"name":"Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1038\/ng0397-236","article-title":"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy","volume":"15","author":"Allikmets","year":"1997","journal-title":"Nat Genet"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1007\/BF01961301","article-title":"\u00dcber famili\u00e4re, progressive degeneration in der maculagegend des auges","volume":"71","author":"Stargardt","year":"1909","journal-title":"Albrecht von Graefes Arch Klin Ophthalmol"},{"key":"bib4","first-page":"1048","article-title":"A special form of tapetoretinal degeneration: fundus flavimaculatus","volume":"69","author":"Franceschetti","year":"1965","journal-title":"Trans Am Acad Ophthalmol Otolaryngol"},{"key":"bib5","first-page":"505","article-title":"Fundus flavimaculatus [in French]","volume":"25","author":"Franceschetti","year":"1965","journal-title":"Arch Ophtalmol Rev Gen Ophtalmol"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"2061","DOI":"10.1001\/archopht.1976.03910040721003","article-title":"Fundus flavimaculatus. A clinical classification","volume":"94","author":"Fishman","year":"1976","journal-title":"Arch Ophthalmol"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1001\/archopht.117.4.504","article-title":"Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene","volume":"117","author":"Fishman","year":"1999","journal-title":"Arch Ophthalmol"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1086\/303079","article-title":"Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy","volume":"67","author":"Maugeri","year":"2000","journal-title":"Am J Hum Genet"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1016\/j.ophtha.2017.07.019","article-title":"The rapid-onset chorioretinopathy phenotype of ABCA4 disease","volume":"125","author":"Tanaka","year":"2018","journal-title":"Ophthalmology"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"3220","DOI":"10.1167\/iovs.18-23881","article-title":"The common ABCA4 variant p.Asn1868Ile shows nonpenetrance and variable expression of Stargardt disease when present in trans with severe variants","volume":"59","author":"Runhart","year":"2018","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"4249","DOI":"10.1167\/iovs.19-27524","article-title":"Late-onset stargardt disease due to mild, deep-intronic ABCA4 alleles","volume":"60","author":"Runhart","year":"2019","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib12","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1136\/jmedgenet-2017-104540","article-title":"Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration","volume":"54","author":"Zernant","year":"2017","journal-title":"J Med Genet"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"a002733","DOI":"10.1101\/mcs.a002733","article-title":"Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes","volume":"4","author":"Zernant","year":"2018","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"e156154","DOI":"10.1172\/jci.insight.156154","article-title":"A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes","volume":"7","author":"Lee","year":"2022","journal-title":"JCI Insight"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"100861","DOI":"10.1016\/j.preteyeres.2020.100861","article-title":"Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations","volume":"79","author":"Cremers","year":"2020","journal-title":"Prog Retin Eye Res"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"53972","DOI":"10.1074\/jbc.M405216200","article-title":"N-retinylidene-phosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 (ABCR)","volume":"279","author":"Beharry","year":"2004","journal-title":"J Biol Chem"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"2841","DOI":"10.1167\/iovs.13-13624","article-title":"Quantitative fundus autofluorescence in recessive Stargardt disease","volume":"55","author":"Burke","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1093\/hmg\/ddh048","article-title":"Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence","volume":"13","author":"Cideciyan","year":"2004","journal-title":"Hum Mol Genet"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.preteyeres.2011.12.001","article-title":"The bisretinoids of retinal pigment epithelium","volume":"31","author":"Sparrow","year":"2012","journal-title":"Prog Retin Eye Res"},{"key":"bib20","first-page":"2988","article-title":"A2E, a lipofuscin fluorophore, in human retinal pigmented epithelial cells in culture","volume":"40","author":"Sparrow","year":"1999","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib21","first-page":"1981","article-title":"The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells","volume":"41","author":"Sparrow","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"3992","DOI":"10.1167\/iovs.19-27178","article-title":"Light sensitivity within areas of geographic atrophy secondary to age-related macular degeneration","volume":"60","author":"Pfau","year":"2019","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"1458","DOI":"10.1016\/S0161-6420(96)30483-1","article-title":"Fixation patterns and reading rates in eyes with central scotomas from advanced atrophic age-related macular degeneration and Stargardt disease","volume":"103","author":"Sunness","year":"1996","journal-title":"Ophthalmology"},{"key":"bib24","doi-asserted-by":"publisher","first-page":"1234","DOI":"10.1097\/IAE.0b013e31817c1b47","article-title":"Preferred retinal locus in macular disease: characteristics and clinical implications","volume":"28","author":"Greenstein","year":"2008","journal-title":"Retina"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"2076","DOI":"10.1016\/j.visres.2007.04.012","article-title":"Quantifying fixation in patients with Stargardt disease","volume":"47","author":"Reinhard","year":"2007","journal-title":"Vis Res"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1016\/j.oret.2016.08.009","article-title":"Fixation location and stability using the MP-1 microperimeter in Stargardt disease: ProgStar Report No. 3","volume":"1","author":"Schonbach","year":"2017","journal-title":"Ophthalmol Retina"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1016\/j.ajo.2018.06.003","article-title":"Longitudinal changes of fixation location and stability within 12 months in Stargardt disease: ProgStar Report No. 12","volume":"193","author":"Schonbach","year":"2018","journal-title":"Am J Ophthalmol"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"1307","DOI":"10.1007\/s00417-017-3637-6","article-title":"Multimodal analysis of the preferred retinal location and the transition zone in patients with Stargardt Disease","volume":"255","author":"Verdina","year":"2017","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"1741","DOI":"10.1097\/IAE.0000000000001003","article-title":"Mapping the dense scotoma and its enlargement in Stargardt disease","volume":"36","author":"Bernstein","year":"2016","journal-title":"Retina"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1167\/iovs.11-8415","article-title":"Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials","volume":"53","author":"Cideciyan","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1167\/iovs.61.4.36","article-title":"Abnormal visual function outside the area of atrophy defined by short-wavelength fundus autofluorescence in Stargardt disease","volume":"61","author":"Sunness","year":"2020","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1097\/IAE.0b013e31816690bd","article-title":"Retinal function and loss of autofluorescence in Stargardt disease","volume":"28","author":"Sunness","year":"2008","journal-title":"Retina"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1159\/000361056","article-title":"Multifocal electroretinograms in Stargardt's disease\/fundus flavimaculatus","volume":"232","author":"Kuniyoshi","year":"2014","journal-title":"Ophthalmologica"},{"key":"bib34","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1136\/bjo.82.3.267","article-title":"Multifocal electroretinography in patients with Stargardt's macular dystrophy","volume":"82","author":"Kretschmann","year":"1998","journal-title":"Br J Ophthalmol"},{"key":"bib35","doi-asserted-by":"publisher","first-page":"1567","DOI":"10.1097\/IAE.0000000000000136","article-title":"Multimodal imaging and multifocal electroretinography demonstrate autosomal recessive Stargardt disease may present like occult macular dystrophy","volume":"34","author":"Sisk","year":"2014","journal-title":"Retina"},{"key":"bib36","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1007\/s00417-019-04280-8","article-title":"The absence of fundus abnormalities in Stargardt disease","volume":"257","author":"Bax","year":"2019","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"bib37","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1159\/000438906","article-title":"Colour vision in Stargardt disease","volume":"54","author":"Vandenbroucke","year":"2015","journal-title":"Ophthalmic Res"},{"key":"bib38","doi-asserted-by":"publisher","first-page":"1178","DOI":"10.1126\/science.1957169","article-title":"Optical coherence tomography","volume":"254","author":"Huang","year":"1991","journal-title":"Science"},{"key":"bib39","doi-asserted-by":"publisher","first-page":"16007","DOI":"10.3390\/ijms232416007","article-title":"Investigation of structural alterations in inherited retinal diseases: a quantitative SD-OCT-analysis of retinal layer thicknesses in light of underlying genetic mutations","volume":"23","author":"Gersch","year":"2022","journal-title":"Int J Mol Sci"},{"key":"bib40","doi-asserted-by":"publisher","first-page":"5227","DOI":"10.1167\/iovs.17-22532","article-title":"A comparison of en face optical coherence tomography and fundus autofluorescence in Stargardt disease","volume":"58","author":"Greenstein","year":"2017","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib41","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1167\/tvst.8.3.46","article-title":"Reproducibility of measurements of retinal structural parameters using optical coherence tomography in Stargardt disease","volume":"8","author":"Kong","year":"2019","journal-title":"Transl Vis Sci Technol"},{"key":"bib42","doi-asserted-by":"publisher","first-page":"OCT247","DOI":"10.1167\/iovs.15-18751","article-title":"En face spectral-domain optical coherence tomography for the monitoring of lesion area progression in Stargardt disease","volume":"57","author":"Melillo","year":"2016","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib43","doi-asserted-by":"publisher","first-page":"3248","DOI":"10.1177\/1120672121990579","article-title":"Outer nuclear layer relevance in visual function correlated to quantitative enface OCT parameters in Stargardt disease","volume":"31","author":"Mucciolo","year":"2021","journal-title":"Eur J Ophthalmol"},{"key":"bib44","doi-asserted-by":"publisher","first-page":"1669","DOI":"10.1007\/s00417-015-3254-1","article-title":"En face OCT in Stargardt disease","volume":"254","author":"Sodi","year":"2016","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"bib45","first-page":"435","article-title":"The progression of Stargardt disease as determined by spectral-domain optical coherence tomography over a 24-month period (ProgStar Report No. 18)","volume":"67","author":"Strauss","year":"2024","journal-title":"Ophthalmic Res"},{"key":"bib46","doi-asserted-by":"publisher","first-page":"2718","DOI":"10.1038\/s41433-024-03104-2","article-title":"The central retinal thickness and its related genotype in ABCA4-related retinopathy","volume":"38","author":"Wang","year":"2024","journal-title":"Eye (Lond)"},{"key":"bib47","doi-asserted-by":"publisher","first-page":"e155373","DOI":"10.1172\/jci.insight.155373","article-title":"Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates","volume":"7","author":"Pfau","year":"2022","journal-title":"JCI Insight"},{"key":"bib48","doi-asserted-by":"publisher","first-page":"9581","DOI":"10.1167\/iovs.11-8554","article-title":"Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP)","volume":"52","author":"Lazow","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib49","doi-asserted-by":"publisher","first-page":"2328","DOI":"10.1167\/iovs.08-2936","article-title":"Thickness of receptor and post-receptor retinal layers in patients with retinitis pigmentosa measured with frequency-domain optical coherence tomography","volume":"50","author":"Hood","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib50","doi-asserted-by":"publisher","first-page":"e1007873","DOI":"10.1371\/journal.pgen.1007873","article-title":"An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease","volume":"15","author":"Makelainen","year":"2019","journal-title":"PLoS Genet"},{"key":"bib51","doi-asserted-by":"publisher","first-page":"2812","DOI":"10.1167\/iovs.12-11490","article-title":"Quantitative fundus autofluorescence in mice: correlation with HPLC quantitation of RPE lipofuscin and measurement of retina outer nuclear layer thickness","volume":"54","author":"Sparrow","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib52","doi-asserted-by":"publisher","first-page":"16576","DOI":"10.1038\/s41598-020-73645-5","article-title":"Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease","volume":"10","author":"Whitmore","year":"2020","journal-title":"Sci Rep"},{"key":"bib53","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1001\/archophthalmol.2011.332","article-title":"Centrifugal expansion of fundus autofluorescence patterns in Stargardt disease over time","volume":"130","author":"Cukras","year":"2012","journal-title":"Arch Ophthalmol"},{"key":"bib54","doi-asserted-by":"publisher","first-page":"5029","DOI":"10.1167\/iovs.15-16763","article-title":"Flecks in recessive Stargardt disease: short-wavelength autofluorescence, near-infrared autofluorescence, and optical coherence tomography","volume":"56","author":"Sparrow","year":"2015","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib55","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1001\/jamaophthalmol.2017.1121","article-title":"Incidence of atrophic lesions in Stargardt disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 5","volume":"135","author":"Strauss","year":"2017","journal-title":"JAMA Ophthalmol"},{"key":"bib56","doi-asserted-by":"publisher","first-page":"8479","DOI":"10.1167\/iovs.11-8182","article-title":"Analysis of the ABCA4 gene by next-generation sequencing","volume":"52","author":"Zernant","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib57","doi-asserted-by":"publisher","first-page":"6797","DOI":"10.1093\/hmg\/ddu396","article-title":"Analysis of the ABCA4 genomic locus in Stargardt disease","volume":"23","author":"Zernant","year":"2014","journal-title":"Hum Mol Genet"},{"key":"bib58","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1101\/gr.097857.109","article-title":"Detection of nonneutral substitution rates on mammalian phylogenies","volume":"20","author":"Pollard","year":"2010","journal-title":"Genome Res"},{"key":"bib59","doi-asserted-by":"publisher","first-page":"1581","DOI":"10.1038\/ng.3703","article-title":"M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity","volume":"48","author":"Jagadeesh","year":"2016","journal-title":"Nat Genet"},{"key":"bib60","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: an ensemble method for predicting the pathogenicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am J Hum Genet"},{"key":"bib61","doi-asserted-by":"publisher","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":"bib62","doi-asserted-by":"publisher","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"bib63","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1038\/ng.3477","article-title":"A spectral approach integrating functional genomic annotations for coding and noncoding variants","volume":"48","author":"Ionita-Laza","year":"2016","journal-title":"Nat Genet"},{"key":"bib64","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"key":"bib65","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1186\/s13059-022-02664-4","article-title":"Predicting RNA splicing from DNA sequence using Pangolin","volume":"23","author":"Zeng","year":"2022","journal-title":"Genome Biol"},{"key":"bib66","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"bib67","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1016\/j.exer.2009.02.001","article-title":"G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy","volume":"89","author":"Cella","year":"2009","journal-title":"Exp Eye Res"},{"key":"bib68","doi-asserted-by":"publisher","first-page":"1293","DOI":"10.1093\/hmg\/ddab122","article-title":"Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease","volume":"30","author":"Lee","year":"2021","journal-title":"Hum Mol Genet"},{"key":"bib69","doi-asserted-by":"publisher","first-page":"1751","DOI":"10.1038\/s41436-018-0414-9","article-title":"Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides","volume":"21","author":"Sangermano","year":"2019","journal-title":"Genet Med"},{"key":"bib70","doi-asserted-by":"publisher","first-page":"8134","DOI":"10.1167\/iovs.14-14848","article-title":"Correlations among near-infrared and short-wavelength autofluorescence and spectral-domain optical coherence tomography in recessive Stargardt disease","volume":"55","author":"Duncker","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib71","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1016\/j.ajo.2008.12.023","article-title":"Lipofuscin- and melanin-related fundus autofluorescence in patients with ABCA4-associated retinal dystrophies","volume":"147","author":"Kellner","year":"2009","journal-title":"Am J Ophthalmol"},{"key":"bib72","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1167\/tvst.11.1.36","article-title":"Comparisons among optical coherence tomography and fundus autofluorescence modalities as measurements of atrophy in ABCA4-associated disease","volume":"11","author":"Parmann","year":"2022","journal-title":"Transl Vis Sci Technol"},{"key":"bib73","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1167\/tvst.8.6.46","article-title":"Functional relevance and structural correlates of near infrared and short wavelength fundus autofluorescence imaging in ABCA4-related retinopathy","volume":"8","author":"Muller","year":"2019","journal-title":"Transl Vis Sci Technol"},{"key":"bib74","doi-asserted-by":"publisher","first-page":"735","DOI":"10.1016\/j.ophtha.2017.11.020","article-title":"Early patterns of macular degeneration in ABCA4-associated retinopathy","volume":"125","author":"Khan","year":"2018","journal-title":"Ophthalmology"},{"key":"bib75","doi-asserted-by":"publisher","first-page":"6139","DOI":"10.1167\/iovs.14-15126","article-title":"The external limiting membrane in early-onset Stargardt disease","volume":"55","author":"Lee","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib76","doi-asserted-by":"publisher","first-page":"7904","DOI":"10.1167\/iovs.14-14907","article-title":"The cellular origins of the outer retinal bands in optical coherence tomography images","volume":"55","author":"Jonnal","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib77","doi-asserted-by":"publisher","first-page":"2214","DOI":"10.1097\/IAE.0000000000001841","article-title":"Hyperreflective deposition in the background of advanced Stargardt disease","volume":"38","author":"Ciccone","year":"2018","journal-title":"Retina"},{"key":"bib78","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1167\/tvst.11.2.36","article-title":"Abnormal appearance of the area centralis in labrador retrievers with an ABCA4 loss-of-function mutation","volume":"11","author":"Ekesten","year":"2022","journal-title":"Transl Vis Sci Technol"},{"key":"bib79","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1093\/hmg\/ddx400","article-title":"Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration","volume":"27","author":"Molday","year":"2018","journal-title":"Hum Mol Genet"},{"key":"bib80","doi-asserted-by":"publisher","first-page":"3220","DOI":"10.1093\/hmg\/ddv073","article-title":"Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations","volume":"24","author":"Zhang","year":"2015","journal-title":"Hum Mol Genet"},{"key":"bib81","doi-asserted-by":"publisher","first-page":"150","DOI":"10.3109\/13816810.2014.958861","article-title":"Retinal histopathology in eyes from a patient with Stargardt disease caused by compound heterozygous ABCA4 mutations","volume":"37","author":"Bonilha","year":"2016","journal-title":"Ophthalmic Genet"},{"key":"bib82","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1016\/S0161-6420(80)35106-3","article-title":"Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study","volume":"87","author":"Eagle","year":"1980","journal-title":"Ophthalmology"},{"key":"bib83","doi-asserted-by":"publisher","first-page":"e5215","DOI":"10.7717\/peerj.5215","article-title":"Ultrastructural alterations in the retinal pigment epithelium and photoreceptors of a Stargardt patient and three Stargardt mouse models: indication for the central role of RPE melanin in oxidative stress","volume":"6","author":"Taubitz","year":"2018","journal-title":"PeerJ"},{"key":"bib84","doi-asserted-by":"publisher","first-page":"1877","DOI":"10.1097\/IAE.0b013e31829234e6","article-title":"Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients","volume":"33","author":"Lima","year":"2013","journal-title":"Retina"},{"key":"bib85","doi-asserted-by":"publisher","first-page":"950","DOI":"10.1167\/iovs.12-10707","article-title":"High-resolution images of retinal structure in patients with choroideremia","volume":"54","author":"Syed","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib86","doi-asserted-by":"publisher","first-page":"e110592","DOI":"10.1371\/journal.pone.0110592","article-title":"Changes in outer retinal microstructures during six month period in eyes with acute zonal occult outer retinopathy-complex","volume":"9","author":"Matsui","year":"2014","journal-title":"PLoS One"},{"key":"bib87","doi-asserted-by":"publisher","first-page":"4662","DOI":"10.1167\/iovs.15-16955","article-title":"Objective analysis of hyperreflective outer retinal bands imaged by optical coherence tomography in patients with Stargardt disease","volume":"56","author":"Park","year":"2015","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib88","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1167\/tvst.8.2.16","article-title":"A workshop on measuring the progression of atrophy secondary to Stargardt disease in the ProgStar studies: findings and lessons learned","volume":"8","author":"Ervin","year":"2019","journal-title":"Transl Vis Sci Technol"},{"key":"bib89","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/j.ajo.2023.02.003","article-title":"Progression of Stargardt disease as determined by fundus autofluorescence over a 24-month period (ProgStar Report No. 17)","volume":"250","author":"Strauss","year":"2023","journal-title":"Am J Ophthalmol"},{"key":"bib90","doi-asserted-by":"publisher","first-page":"1232","DOI":"10.1001\/jamaophthalmol.2017.4152","article-title":"Progression of Stargardt disease as determined by fundus autofluorescence in the retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9)","volume":"135","author":"Strauss","year":"2017","journal-title":"JAMA Ophthalmol"},{"key":"bib91","doi-asserted-by":"publisher","first-page":"5946","DOI":"10.1167\/iovs.15-17698","article-title":"Predicting progression of ABCA4-associated retinal degenerations based on longitudinal measurements of the leading disease front","volume":"56","author":"Cideciyan","year":"2015","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib92","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":"bib93","doi-asserted-by":"publisher","first-page":"1307","DOI":"10.1364\/BOE.485371","article-title":"Evolution of adaptive optics retinal imaging [Invited]","volume":"14","author":"Williams","year":"2023","journal-title":"Biomed Opt Express"},{"key":"bib94","doi-asserted-by":"publisher","first-page":"1545","DOI":"10.3390\/diagnostics14141545","article-title":"The surviving, not thriving, photoreceptors in patients with ABCA4 Stargardt disease","volume":"14","author":"De Bruyn","year":"2024","journal-title":"Diagnostics (Basel)"},{"key":"bib95","doi-asserted-by":"publisher","first-page":"1198","DOI":"10.1001\/jamaophthalmol.2015.2443","article-title":"Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy","volume":"133","author":"Song","year":"2015","journal-title":"JAMA Ophthalmol"},{"key":"bib96","doi-asserted-by":"publisher","first-page":"709","DOI":"10.3109\/02713683.2013.784792","article-title":"Adaptive optics retinal imaging\u2014clinical opportunities and challenges","volume":"38","author":"Carroll","year":"2013","journal-title":"Curr Eye Res"},{"key":"bib97","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1002\/humu.22626","article-title":"Genetic and clinical analysis of ABCA4-associated disease in African American patients","volume":"35","author":"Zernant","year":"2014","journal-title":"Hum Mutat"},{"volume-title":"The Hereditary Dystrophies of the Posterior Pole of the Eye","year":"1971","author":"Deutman","key":"bib3"}],"container-title":["Translational Vision Science &amp; Technology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/tvst.arvojournals.org\/article.aspx?articleid=2811276","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T14:30:52Z","timestamp":1766500252000},"score":1,"resource":{"primary":{"URL":"https:\/\/tvst.arvojournals.org\/article.aspx?articleid=2811276"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,23]]},"references-count":97,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2025,12,1]]}},"URL":"https:\/\/doi.org\/10.1167\/tvst.14.12.23","relation":{},"ISSN":["2164-2591"],"issn-type":[{"type":"print","value":"2164-2591"}],"subject":[],"published":{"date-parts":[[2025,12,23]]}}}