{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T10:28:30Z","timestamp":1790504910419,"version":"4.1.0"},"reference-count":79,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2018,7,27]],"date-time":"2018-07-27T00:00:00Z","timestamp":1532649600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Here we report novel mutations in ABCA4 with the underlying phenotype in a large French cohort with autosomal recessive Stargardt disease. The DNA samples of 397 index subjects were analyzed in exons and flanking intronic regions of ABCA4 (NM_000350.2) by microarray analysis and direct Sanger sequencing. At the end of the screening, at least two likely pathogenic mutations were found in 302 patients (76.1%) while 95 remained unsolved: 40 (10.1%) with no variants identified, 52 (13.1%) with one heterozygous mutation, and 3 (0.7%) with at least one variant of uncertain significance (VUS). Sixty-three novel variants were identified in the cohort. Three of them were variants of uncertain significance. The other 60 mutations were classified as likely pathogenic or pathogenic, and were identified in 61 patients (15.4%). The majority of those were missense (55%) followed by frameshift and nonsense (30%), intronic (11.7%) variants, and in-frame deletions (3.3%). Only patients with variants never reported in literature were further analyzed herein. Recruited subjects underwent complete ophthalmic examination including best corrected visual acuity, kinetic and static perimetry, color vision test, full-field and multifocal electroretinography, color fundus photography, short-wavelength and near-infrared fundus autofluorescence imaging, and spectral domain optical coherence tomography. Clinical evaluation of each subject confirms the tendency that truncating mutations lead to a more severe phenotype with electroretinogram (ERG) impairment (p = 0.002) and an earlier age of onset (p = 0.037). Our study further expands the mutation spectrum in the exonic and flanking regions of ABCA4 underlying Stargardt disease.<\/jats:p>","DOI":"10.3390\/ijms19082196","type":"journal-article","created":{"date-parts":[[2018,7,27]],"date-time":"2018-07-27T12:20:03Z","timestamp":1532694003000},"page":"2196","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort"],"prefix":"10.3390","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9354-9005","authenticated-orcid":false,"given":"Marco","family":"Nassisi","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"},{"name":"Department of Surgical Sciences, Eye Clinic, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saddek","family":"Mohand-Sa\u00efd","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"},{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC 1423, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire-Marie","family":"Dhaenens","sequence":"additional","affiliation":[{"name":"Univ. Lille, Inserm UMR-S 1172, CHU Lille, Biochemistry and Molecular Biology Department\u2014UF Ge\u0301nopathies, F-59000 Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Boyard","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"D\u00e9montant","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Andrieu","sequence":"additional","affiliation":[{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC 1423, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Antonio","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Condroyer","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Foussard","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"M\u00e9j\u00e9case","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Eandi","sequence":"additional","affiliation":[{"name":"Department of Surgical Sciences, Eye Clinic, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9-Alain","family":"Sahel","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"},{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC 1423, F-75012 Paris, France"},{"name":"Fondation Ophtalmologique Adolphe de Rothschild, F-75019 Paris, France"},{"name":"Acad\u00e9mie des Sciences-Institut de France, F-75006 Paris, France"},{"name":"Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburg, PA 15213, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3510-1712","authenticated-orcid":false,"given":"Christina","family":"Zeitz","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0698-5309","authenticated-orcid":false,"given":"Isabelle","family":"Audo","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, F-75012 Paris, France"},{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC 1423, F-75012 Paris, France"},{"name":"Institute of Ophthalmology, University College of London, London EC1V 9EL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2018,7,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/77004","article-title":"ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy","volume":"25","author":"Molday","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"26684","DOI":"10.1074\/jbc.M804505200","article-title":"Retinopathy in mice induced by disrupted all-trans-retinal clearance","volume":"283","author":"Maeda","year":"2008","journal-title":"J. Biol. Chem."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"4917","DOI":"10.1167\/iovs.09-3581","article-title":"Evaluation of potential therapies for a mouse model of human age-related macular degeneration caused by delayed all-trans-retinal clearance","volume":"50","author":"Maeda","year":"2009","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1076\/opge.24.2.75.13996","article-title":"The gene for Stargardt disease, ABCA4, is a major retinal gene: A mini-review","volume":"24","author":"Koenekoop","year":"2003","journal-title":"Ophthalmic Genet."},{"key":"ref_5","first-page":"584","article-title":"ABCA4 mutations in Portuguese Stargardt patients: Identification of new mutations and their phenotypic analysis","volume":"15","author":"Ayuso","year":"2009","journal-title":"Mol. Vis."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1086\/302251","article-title":"Genotype\/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease","volume":"64","author":"Lewis","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/ng0198-11","article-title":"Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR","volume":"18","author":"Paloma","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Huang, X., Yuan, L., Xu, H., Zheng, W., Cao, Y., Yi, J., Guo, Y., Yang, Z., Li, Y., and Deng, H. (2018). Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing. Biosci. Rep.","DOI":"10.1042\/BSR20171300"},{"key":"ref_9","first-page":"452068","article-title":"Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa","volume":"2015","author":"Audere","year":"2015","journal-title":"Case Rep. Ophthalmol. Med."},{"key":"ref_10","first-page":"447","article-title":"Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: Evidence of clinical heterogeneity at this locus","volume":"36","author":"Rozet","year":"1999","journal-title":"J. Med. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1883","DOI":"10.1167\/iovs.12-9477","article-title":"Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: Clinical, pathologic, and molecular characterization","volume":"53","author":"Mullins","year":"2012","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1002\/humu.23165","article-title":"In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases","volume":"38","author":"Cornelis","year":"2017","journal-title":"Hum. Mutat."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1086\/303100","article-title":"Simple and complex ABCR: Genetic predisposition to retinal disease","volume":"67","author":"Allikmets","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_14","first-page":"158","article-title":"Novel mutations in of the ABCR gene in Italian patients with Stargardt disease","volume":"24","author":"Passerini","year":"2010","journal-title":"Eye Lond. Engl."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2332","DOI":"10.1016\/j.ophtha.2013.04.002","article-title":"Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: Retrospective analysis in 420 Spanish families","volume":"120","author":"Zernant","year":"2013","journal-title":"Ophthalmology"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1167\/iovs.15-18190","article-title":"Screening of ABCA4 Gene in a Chinese Cohort with Stargardt Disease or Cone-Rod Dystrophy with a Report on 85 Novel Mutations","volume":"57","author":"Jiang","year":"2016","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"13","DOI":"10.3109\/09286586.2012.737890","article-title":"Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: Assessment of 21-year data management","volume":"20","author":"Bocquet","year":"2013","journal-title":"Ophthalmic Epidemiol."},{"key":"ref_18","doi-asserted-by":"crossref","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":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_19","doi-asserted-by":"crossref","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":"ref_20","doi-asserted-by":"crossref","first-page":"5136","DOI":"10.1093\/hmg\/ddt367","article-title":"Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease","volume":"22","author":"Braun","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1002\/humu.22716","article-title":"An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients","volume":"36","author":"Bauwens","year":"2015","journal-title":"Hum. Mutat."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/humu.22717","article-title":"Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant","volume":"36","author":"Bax","year":"2015","journal-title":"Hum. Mutat."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1101\/gr.226621.117","article-title":"ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease","volume":"28","author":"Sangermano","year":"2018","journal-title":"Genome Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1086\/302323","article-title":"The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease","volume":"64","author":"Maugeri","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","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":"ref_26","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1038\/sj.ejhg.5200221","article-title":"Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies","volume":"6","author":"Rozet","year":"1998","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1167\/iovs.16-19936","article-title":"Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients from a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs","volume":"58","author":"Schulz","year":"2017","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"5723","DOI":"10.1167\/iovs.17-22398","article-title":"Novel Complex ABCA4 Alleles in Brazilian Patients with Stargardt Disease: Genotype-Phenotype Correlation","volume":"58","author":"Salles","year":"2017","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_29","doi-asserted-by":"crossref","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":"ref_30","doi-asserted-by":"crossref","first-page":"4458","DOI":"10.1167\/iovs.11-9166","article-title":"Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene","volume":"53","author":"Burke","year":"2012","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.exer.2009.02.001","article-title":"G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull\u2019s eye maculopathy","volume":"89","author":"Cella","year":"2009","journal-title":"Exp. Eye Res."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"194","DOI":"10.2174\/1566523217666171116170040","article-title":"The Role of Gene Therapy in the Treatment of Retinal Diseases: A Review","volume":"17","author":"Campa","year":"2017","journal-title":"Curr. Gene Ther."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1007\/s00417-017-3619-8","article-title":"Novel therapeutics for Stargardt disease","volume":"255","author":"Lu","year":"2017","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_34","first-page":"1179","article-title":"An analysis of allelic variation in the ABCA4 gene","volume":"42","author":"Webster","year":"2001","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1126\/science.277.5333.1805","article-title":"Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration","volume":"277","author":"Allikmets","year":"1997","journal-title":"Science"},{"key":"ref_36","first-page":"2841","article-title":"Outcome of ABCA4 microarray screening in routine clinical practice","volume":"15","author":"Ernest","year":"2009","journal-title":"Mol. Vis."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Jimenez-Rolando, B., Noval, S., Rosa-Perez, I., Mata Diaz, E., Del Pozo, A., Iba\u00f1ez, C., Silla, J.C., Monta\u00f1o, V.E.F., Martin-Arenas, R., and Vallespin, E. (2017). Next generation sequencing in the diagnosis of Stargardt\u2019s disease. Arch. Soc. Espanola Oftalmol.","DOI":"10.1016\/j.oftale.2017.06.004"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/j.ajo.2013.05.003","article-title":"Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function","volume":"156","author":"Fujinami","year":"2013","journal-title":"Am. J. Ophthalmol."},{"key":"ref_39","first-page":"244","article-title":"ABCR gene analysis in familial exudative age-related macular degeneration","volume":"41","author":"Souied","year":"2000","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1086\/303090","article-title":"A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration","volume":"67","author":"Rivera","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1016\/j.ophtha.2016.01.053","article-title":"Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T\u2192C Mutation in Stargardt Disease","volume":"123","author":"Sangermano","year":"2016","journal-title":"Ophthalmology"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1006\/exer.2001.1093","article-title":"Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene","volume":"73","author":"Birch","year":"2001","journal-title":"Exp. Eye Res."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1159\/000086073","article-title":"Genotype-phenotype correlation in Italian families with Stargardt disease","volume":"37","author":"Simonelli","year":"2005","journal-title":"Ophthalmic Res."},{"key":"ref_44","first-page":"2229","article-title":"Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration","volume":"42","author":"Briggs","year":"2001","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1007\/s00417-004-1079-4","article-title":"The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene","volume":"243","author":"Klevering","year":"2005","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_46","doi-asserted-by":"crossref","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":"ref_47","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1373\/clinchem.2004.033241","article-title":"Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations","volume":"50","author":"Stenirri","year":"2004","journal-title":"Clin. Chem."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/humu.10263","article-title":"Genotyping microarray (gene chip) for the ABCR (ABCA4) gene","volume":"22","author":"Jaakson","year":"2003","journal-title":"Hum. Mutat."},{"key":"ref_49","first-page":"16","article-title":"An analysis of ABCR mutations in British patients with recessive retinal dystrophies","volume":"41","author":"Papaioannou","year":"2000","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"4409","DOI":"10.1167\/iovs.11-8201","article-title":"Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: Implications for gene therapy","volume":"53","author":"Testa","year":"2012","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1111\/aos.13273","article-title":"The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level","volume":"95","author":"Aukrust","year":"2017","journal-title":"Acta Ophthalmol. (Copenh.)"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"8181","DOI":"10.1167\/iovs.13-12104","article-title":"A longitudinal study of Stargardt disease: Quantitative assessment of fundus autofluorescence, progression, and genotype correlations","volume":"54","author":"Fujinami","year":"2013","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1001\/archopht.119.3.359","article-title":"Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus","volume":"119","author":"Lois","year":"2001","journal-title":"Arch. Ophthalmol."},{"key":"ref_54","doi-asserted-by":"crossref","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":"ref_55","doi-asserted-by":"crossref","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":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"4739","DOI":"10.1167\/iovs.05-0805","article-title":"ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina","volume":"46","author":"Cideciyan","year":"2005","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1136\/bjophthalmol-2014-306237","article-title":"Morpho-functional correlation of fundus autofluorescence in Stargardt disease","volume":"99","author":"Parodi","year":"2015","journal-title":"Br. J. Ophthalmol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.exer.2015.11.011","article-title":"Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe","volume":"145","author":"Ambroziak","year":"2016","journal-title":"Exp. Eye Res."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/gim.2014.174","article-title":"Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions","volume":"17","author":"Zaneveld","year":"2015","journal-title":"Genet. Med."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1016\/j.exer.2010.07.018","article-title":"Loss of peripapillary sparing in non-group I Stargardt disease","volume":"91","author":"Burke","year":"2010","journal-title":"Exp. Eye Res."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"39600","DOI":"10.1074\/jbc.M304236200","article-title":"Functional interaction between the two halves of the photoreceptor-specific ATP binding cassette protein ABCR (ABCA4). Evidence for a non-exchangeable ADP in the first nucleotide binding domain","volume":"278","author":"Ahn","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"3687","DOI":"10.1167\/iovs.09-4766","article-title":"Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients","volume":"51","author":"Audo","year":"2010","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/humu.10212","article-title":"Human Gene Mutation Database (HGMD): 2003 update","volume":"21","author":"Stenson","year":"2003","journal-title":"Hum. Mutat."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/humu.21438","article-title":"LOVD v.2.0: The next generation in gene variant databases","volume":"32","author":"Fokkema","year":"2011","journal-title":"Hum. Mutat."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"W452","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: Predicting effects of amino acid substitutions on proteins","volume":"40","author":"Sim","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: Mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J. Comput. Biol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in Genie","volume":"4","author":"Reese","year":"1997","journal-title":"J. Comput. Biol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: An online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"ref_71","doi-asserted-by":"crossref","unstructured":"Casper, J., Zweig, A.S., Villarreal, C., Tyner, C., Speir, M.L., Rosenbloom, K.R., Raney, B.J., Lee, C.M., Lee, B.T., and Karolchik, D. (2017). The UCSC Genome Browser database: 2018 update. Nucleic Acids Res.","DOI":"10.1093\/nar\/gkx1020"},{"key":"ref_72","first-page":"656","article-title":"BLAT\u2014The BLAST-like alignment tool","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","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":"Genet. Med."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s10633-008-9155-4","article-title":"ISCEV Standard for full-field clinical electroretinography (2008 update)","volume":"118","author":"Marmor","year":"2009","journal-title":"Doc. Ophthalmol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10633-007-9089-2","article-title":"ISCEV guidelines for clinical multifocal electroretinography (2007 edition)","volume":"116","author":"Hood","year":"2008","journal-title":"Doc. Ophthalmol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"7640","DOI":"10.1167\/iovs.11-7457","article-title":"Semiautomated image processing method for identification and quantification of geographic atrophy in age-related macular degeneration","volume":"52","author":"Brinkmann","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1136\/bjophthalmol-2015-307035","article-title":"Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography","volume":"100","author":"Strauss","year":"2016","journal-title":"Br. J. Ophthalmol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1167\/tvst.5.5.10","article-title":"Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial","volume":"5","author":"Parker","year":"2016","journal-title":"Transl. Vis. Sci. Technol."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s00439-015-1605-y","article-title":"Complex inheritance of ABCA4 disease: Four mutations in a family with multiple macular phenotypes","volume":"135","author":"Lee","year":"2016","journal-title":"Hum. Genet."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/19\/8\/2196\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T15:14:47Z","timestamp":1760195687000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/19\/8\/2196"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,27]]},"references-count":79,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2018,8]]}},"alternative-id":["ijms19082196"],"URL":"https:\/\/doi.org\/10.3390\/ijms19082196","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,27]]}}}