{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T16:37:47Z","timestamp":1788453467200,"version":"build-2803163510"},"reference-count":162,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"9","license":[{"start":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T00:00:00Z","timestamp":1758067200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Trans. Vis. Sci. Tech."],"published-print":{"date-parts":[[2025,9,17]]},"DOI":"10.1167\/tvst.14.9.26","type":"journal-article","created":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T12:30:45Z","timestamp":1758112245000},"page":"26","source":"Crossref","is-referenced-by-count":3,"title":["Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease"],"prefix":"10.1167","volume":"14","author":[{"given":"Alexis Ceecee","family":"Britten-Jones","sequence":"first","affiliation":[{"name":"Department of Optometry and Vision Sciences, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia"},{"name":"https:\/\/orcid.org\/0000-0002-1101-2870"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saoud","family":"Al-Khuzaei","sequence":"additional","affiliation":[{"name":"Oxford Eye Hospital, John Radcliffe Hospital, Oxford, UK"},{"name":"Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Oxford, UK"},{"name":"https:\/\/orcid.org\/0000-0002-2779-3202"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Rizzi","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"https:\/\/orcid.org\/0000-0003-4922-397X"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael D.","family":"Crossland","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, UK"},{"name":"https:\/\/orcid.org\/0000-0001-6833-6043"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malgorzata B.","family":"Rozanowska","sequence":"additional","affiliation":[{"name":"School of Optometry and Vision Sciences, Cardiff University, Cardiff, Wales"},{"name":"https:\/\/orcid.org\/0000-0003-2913-8954"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernardo S.","family":"Mendes","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, UK"},{"name":"https:\/\/orcid.org\/0009-0002-0416-6852"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thales A. C.","family":"de Guimaraes","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, UK"},{"name":"Department of Ophthalmology, Faculdade S\u00e3o Leopoldo Mandic, Campinas, S\u00e3o Paulo, Brazil"},{"name":"Centro Universit\u00e1rio de Jaguari\u00fana (UniFAJ), S\u00e3o Paulo, Brazil"},{"name":"Centro Universit\u00e1rio Max-Planck (UniMAX), S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malena","family":"Daich Varela","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, UK"},{"name":"https:\/\/orcid.org\/0000-0003-4960-4510"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dayyanah","family":"Sumodhee","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, UK"},{"name":"https:\/\/orcid.org\/0000-0001-7274-6088"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Woof","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, UK"},{"name":"https:\/\/orcid.org\/0000-0001-7555-329X"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seemi","family":"Khan","sequence":"additional","affiliation":[{"name":"Alkeus Pharmaceuticals, Inc., Davis Square, MA, USA"},{"name":"https:\/\/orcid.org\/0009-0000-0392-3888"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aniz","family":"Girach","sequence":"additional","affiliation":[{"name":"SpliceBio, Barcelona Science Park, Barcelona, Spain"},{"name":"https:\/\/orcid.org\/0000-0003-0641-3028"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"Downes","sequence":"additional","affiliation":[{"name":"Oxford Eye Hospital, John Radcliffe Hospital, Oxford, UK"},{"name":"https:\/\/orcid.org\/0000-0001-7373-2665"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"Cheetham","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"https:\/\/orcid.org\/0000-0001-6429-654X"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Piccolo","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"https:\/\/orcid.org\/0000-0001-5867-5383"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren N.","family":"Ayton","sequence":"additional","affiliation":[{"name":"Department of Optometry and Vision Sciences, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia"},{"name":"https:\/\/orcid.org\/0000-0001-9907-084X"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina Leite","family":"Brand\u00e3o","sequence":"additional","affiliation":[{"name":"Stargardt's Connected, Waltham Cross, UK"},{"name":"https:\/\/orcid.org\/0009-0005-9529-6709"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendrick P. N.","family":"Scholl","sequence":"additional","affiliation":[{"name":"Belite Bio Inc, San Diego, CA, USA"},{"name":"Medical University of Vienna, Department of Clinical Pharmacology, Vienna, Austria"},{"name":"Pallas Kliniken AG, Pallas Klinik Z\u00fcrich, Z\u00fcrich, Switzerland"},{"name":"European Vision Institute, Basel, Switzerland"},{"name":"https:\/\/orcid.org\/0000-0002-7312-0316"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andi","family":"Skilton","sequence":"additional","affiliation":[{"name":"Stargardt's Connected, Waltham Cross, UK"},{"name":"https:\/\/orcid.org\/0000-0002-9573-372X"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhavna","family":"Tailor","sequence":"additional","affiliation":[{"name":"Stargardt's Connected, Waltham Cross, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, UK"},{"name":"https:\/\/orcid.org\/0000-0002-1552-7046"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolas","family":"Pontikos","sequence":"additional","affiliation":[{"name":"University College London Institute of Ophthalmology, London, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, UK"},{"name":"https:\/\/orcid.org\/0000-0003-1782-4711"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of Stargardt's Connected","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"issue":"10","key":"bib1","doi-asserted-by":"publisher","first-page":"1384","DOI":"10.1016\/j.ophtha.2020.04.008","article-title":"Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom","volume":"127","author":"Pontikos","year":"2020","journal-title":"Ophthalmology"},{"issue":"3","key":"bib2","doi-asserted-by":"publisher","first-page":"828","DOI":"10.1002\/ajmg.c.31843","article-title":"Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network","volume":"184","author":"Goetz","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"6","key":"bib3","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1016\/j.oret.2017.03.001","article-title":"The epidemiology of Stargardt disease in the United Kingdom","volume":"1","author":"Spiteri Cornish","year":"2017","journal-title":"Ophthalmol Retina"},{"issue":"4","key":"bib4","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1111\/aos.14996","article-title":"Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry","volume":"100","author":"Runhart","year":"2022","journal-title":"Acta Ophthalmol"},{"issue":"3","key":"bib5","doi-asserted-by":"publisher","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"},{"issue":"100861","key":"bib7","doi-asserted-by":"crossref","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"},{"issue":"10","key":"bib8","doi-asserted-by":"publisher","first-page":"1359","DOI":"10.1136\/bjo.2008.148155","article-title":"Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease","volume":"93","author":"Riveiro-Alvarez","year":"2009","journal-title":"Br J Ophthalmol"},{"issue":"5","key":"bib9","doi-asserted-by":"publisher","first-page":"2710","DOI":"10.1073\/pnas.1913179117","article-title":"Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases","volume":"117","author":"Hanany","year":"2020","journal-title":"Proc Natl Acad Sci USA"},{"issue":"1","key":"bib10","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.ophtha.2023.08.011","article-title":"Study of late-onset Stargardt type 1 disease: characteristics, genetics, and progression","volume":"131","author":"Li","year":"2024","journal-title":"Ophthalmology"},{"key":"bib11","article-title":"The Australian Inherited Retinal Disease Registry and DNA Bank","author":"De Roach","journal-title":"Tasman Med J"},{"issue":"9","key":"bib12","doi-asserted-by":"publisher","first-page":"1314","DOI":"10.1016\/j.ophtha.2017.04.008","article-title":"Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease","volume":"124","author":"Stone","year":"2017","journal-title":"Ophthalmology"},{"key":"bib13","first-page":"25158414211056384","article-title":"The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions","volume":"13","author":"Al-Khuzaei","year":"2021","journal-title":"Ther Adv Ophthalmol"},{"issue":"8","key":"bib14","doi-asserted-by":"publisher","first-page":"1241","DOI":"10.3390\/genes12081241","article-title":"An overview of the genetics of ABCA4 retinopathies, an evolving story","volume":"12","author":"Al-Khuzaei","year":"2021","journal-title":"Genes (Basel)"},{"issue":"11","key":"bib15","doi-asserted-by":"publisher","first-page":"1182","DOI":"10.1016\/j.ophtha.2023.06.010","article-title":"Prognostication in Stargardt disease using fundus autofluorescence: Improving patient care","volume":"130","author":"Daich Varela","year":"2023","journal-title":"Ophthalmology"},{"issue":"6","key":"bib16","doi-asserted-by":"publisher","first-page":"1075","DOI":"10.1016\/j.ajo.2013.01.018","article-title":"A longitudinal study of Stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations","volume":"155","author":"Fujinami","year":"2013","journal-title":"Am J Ophthalmol"},{"issue":"3","key":"bib17","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1136\/bjophthalmol-2018-312064","article-title":"Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8","volume":"103","author":"Fujinami","year":"2019","journal-title":"Br J Ophthalmol"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1016\/j.ajo.2020.06.027","article-title":"Genotype-phenotype correlations in a Spanish cohort of 506 families with biallelic ABCA4 pathogenic variants","volume":"219","author":"Del Pozo-Valero","year":"2020","journal-title":"Am J Ophthalmol"},{"issue":"3","key":"bib19","doi-asserted-by":"publisher","first-page":"694","DOI":"10.1002\/ajmg.c.31838","article-title":"Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: report 1","volume":"184","author":"Liu","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"8","key":"bib20","doi-asserted-by":"publisher","first-page":"2196","DOI":"10.3390\/ijms19082196","article-title":"Expanding the mutation spectrum in ABCA4: Sixty novel disease causing variants and their associated phenotype in a large French Stargardt cohort","volume":"19","author":"Nassisi","year":"2018","journal-title":"Int J Mol Sci"},{"issue":"2","key":"bib21","doi-asserted-by":"publisher","first-page":"100029","DOI":"10.1016\/j.ajoint.2024.100029","article-title":"Genotype-phenotype severity correlation in a multicentric Portuguese cohort of ABCA4-associated retinopathy","volume":"1","author":"Ferreira","year":"2024","journal-title":"AJO International"},{"issue":"8","key":"bib22","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1016\/j.ophtha.2024.01.035","article-title":"A retrospective longitudinal study of 460 patients with ABCA4-associated retinal disease","volume":"131","author":"Fenner","year":"2024","journal-title":"Ophthalmology"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"920","DOI":"10.1001\/jamaophthalmol.2018.2198","article-title":"Visual acuity change over 24 months and its association with foveal phenotype and genotype in individuals with Stargardt disease","volume":"136","author":"Kong","year":"2018","journal-title":"JAMA Ophthalmol"},{"issue":"10","key":"bib24","doi-asserted-by":"publisher","first-page":"1134","DOI":"10.1001\/jamaophthalmol.2019.2885","article-title":"Progression of Stargardt Disease as determined by fundus autofluorescence over a 12-month period: ProgStar report no. 11","volume":"137","author":"Strauss","year":"2019","journal-title":"JAMA Ophthalmol"},{"key":"bib25","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"},{"issue":"2","key":"bib26","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"},{"issue":"2","key":"bib27","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"},{"issue":"3","key":"bib28","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1016\/j.ajhg.2022.01.008","article-title":"Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity","volume":"109","author":"Cornelis","year":"2022","journal-title":"Am J Hum Genet"},{"issue":"3","key":"bib29","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"},{"issue":"101036","key":"bib30","doi-asserted-by":"crossref","first-page":"101036","DOI":"10.1016\/j.preteyeres.2021.101036","article-title":"Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration","volume":"89","author":"Molday","year":"2022","journal-title":"Prog Retin Eye Res"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"e63524","DOI":"10.7554\/eLife.63524","article-title":"Molecular structures of the eukaryotic retinal importer ABCA4","volume":"10","author":"Liu","year":"2021","journal-title":"Elife"},{"issue":"1","key":"bib32","doi-asserted-by":"publisher","first-page":"5902","DOI":"10.1038\/s41467-021-26161-7","article-title":"Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease","volume":"12","author":"Scortecci","year":"2021","journal-title":"Nat Commun"},{"issue":"20","key":"bib34","doi-asserted-by":"publisher","first-page":"5053","DOI":"10.3390\/ijms20205053","article-title":"Prevalence of ABCA4 deep-intronic variants and related phenotype in an unsolved \u201cone-hit\u201d cohort with Stargardt disease","volume":"20","author":"Nassisi","year":"2019","journal-title":"Int J Mol Sci"},{"issue":"25","key":"bib35","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"},{"issue":"4","key":"bib36","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1016\/j.ajhg.2018.02.008","article-title":"Identification and rescue of splice defects caused by two neighboring deep-intronic ABCA4 mutations underlying Stargardt disease","volume":"102","author":"Albert","year":"2018","journal-title":"Am J Hum Genet"},{"issue":"7","key":"bib37","doi-asserted-by":"publisher","first-page":"1235","DOI":"10.1038\/s41436-020-0787-4","article-title":"Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics","volume":"22","author":"Khan","year":"2020","journal-title":"Genet Med"},{"issue":"8","key":"bib38","doi-asserted-by":"publisher","first-page":"1761","DOI":"10.1038\/s41436-018-0420-y","article-title":"ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants","volume":"21","author":"Bauwens","year":"2019","journal-title":"Genet Med"},{"issue":"4","key":"bib39","doi-asserted-by":"publisher","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"},{"issue":"1","key":"bib40","doi-asserted-by":"publisher","first-page":"185","DOI":"10.3390\/ijms22010185","article-title":"Functional characterization of ABCA4 missense variants linked to Stargardt macular degeneration","volume":"22","author":"Garces","year":"2020","journal-title":"Int J Mol Sci"},{"issue":"7","key":"bib41","first-page":"452","article-title":"Enhancing variant curation guidelines to optimize clinical genetic testing for ABCA4 retinopathies utilizing the ClinGen framework","volume":"65","author":"Lee","year":"2024","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib42","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1155\/2023\/6815504","article-title":"Compendium of clinical variant classification for 2,246 unique ABCA4 variants to clarify variant pathogenicity in Stargardt disease using a modified ACMG\/AMP framework","volume":"2023","author":"Cornelis","year":"2023","journal-title":"Hum Mutat"},{"issue":"1","key":"bib43","doi-asserted-by":"publisher","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":"Invest Ophthalmol Vis Sci"},{"issue":"10","key":"bib44","doi-asserted-by":"publisher","first-page":"1734","DOI":"10.1002\/humu.24088","article-title":"Fitting a naturally scaled point system to the ACMG\/AMP variant classification guidelines","volume":"41","author":"Tavtigian","year":"2020","journal-title":"Hum Mutat"},{"issue":"8","key":"bib46","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"},{"issue":"13","key":"bib47","doi-asserted-by":"publisher","first-page":"5564","DOI":"10.1167\/iovs.18-25579","article-title":"Penetrance of the ABCA4 p.Asn1868Ile allele in Stargardt disease","volume":"59","author":"Allikmets","year":"2018","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"6","key":"bib48","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"},{"issue":"13","key":"bib49","doi-asserted-by":"publisher","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":"Invest Ophthalmol Vis Sci"},{"issue":"9","key":"bib50","doi-asserted-by":"publisher","first-page":"826","DOI":"10.1001\/jamaophthalmol.2023.3188","article-title":"Association between genotype and phenotype severity in ABCA4-associated retinopathy","volume":"141","author":"Bianco","year":"2023","journal-title":"JAMA Ophthalmol"},{"issue":"2","key":"bib51","doi-asserted-by":"publisher","first-page":"100652","DOI":"10.1016\/j.xops.2024.100652","article-title":"Quantification of fundus autofluorescence features in a molecularly characterized cohort of >3500 patients with inherited retinal disease from the United Kingdom","volume":"5","author":"Woof","year":"2025","journal-title":"Ophthalmol Sci"},{"key":"bib52","article-title":"Quantification of optical coherence tomography features in >3500 patients with inherited retinal disease reveals novel genotype-phenotype associations [published online ahead of print July 3, 2025]","author":"Woof","journal-title":"medRxiv Preprint"},{"issue":"11","key":"bib53","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"},{"issue":"10","key":"bib54","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"},{"issue":"6","key":"bib55","doi-asserted-by":"publisher","first-page":"735","DOI":"10.1038\/ejhg.2017.13","article-title":"Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent","volume":"25","author":"Lee","year":"2017","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"bib56","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1038\/sj.ejhg.5200784","article-title":"The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe","volume":"10","author":"Maugeri","year":"2002","journal-title":"Eur J Hum Genet"},{"issue":"12","key":"bib57","doi-asserted-by":"publisher","first-page":"1712","DOI":"10.1016\/j.ophtha.2019.07.010","article-title":"Highly variable disease courses in siblings with Stargardt disease","volume":"126","author":"Valkenburg","year":"2019","journal-title":"Ophthalmology"},{"issue":"10","key":"bib58","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1001\/jamaophthalmol.2020.2990","article-title":"Association of sex with frequent and mild ABCA4 alleles in Stargardt disease","volume":"138","author":"Runhart","year":"2020","journal-title":"JAMA Ophthalmol"},{"issue":"6","key":"bib59","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1001\/jamaophthalmol.2021.0460","article-title":"Reevaluating the association of sex with ABCA4 alleles in patients with Stargardt disease","volume":"139","author":"Lee","year":"2021","journal-title":"JAMA Ophthalmol"},{"issue":"3","key":"bib60","doi-asserted-by":"publisher","first-page":"e1010129","DOI":"10.1371\/journal.pgen.1010129","article-title":"Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt\/ABCA4 disease","volume":"18","author":"Zernant","year":"2022","journal-title":"PLoS Genet"},{"issue":"39","key":"bib61","doi-asserted-by":"publisher","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"},{"issue":"8","key":"bib62","doi-asserted-by":"publisher","first-page":"1659","DOI":"10.3390\/genes14081659","article-title":"A splicing variant in RDH8 is associated with autosomal recessive Stargardt macular dystrophy","volume":"14","author":"Zampatti","year":"2023","journal-title":"Genes (Basel)"},{"issue":"3","key":"bib63","doi-asserted-by":"publisher","first-page":"1910","DOI":"10.1167\/iovs.14-13867","article-title":"Light damage in Abca4 and Rpe65rd12 mice","volume":"55","author":"Wu","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"7","key":"bib64","first-page":"1506","article-title":"Inactivation of zebrafish abca4 orthologs to generate a Stargardt disease model","volume":"61","author":"Collery","year":"2020","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"7","key":"bib65","first-page":"40","article-title":"Zebrafish models of Stargardt disease reveal RPE and cone photoreceptor defects that suggest mechanisms of disease","volume":"63","author":"Jensen","year":"2022","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"16","key":"bib66","doi-asserted-by":"publisher","first-page":"8859","DOI":"10.3390\/ijms25168859","article-title":"Emerging therapeutic approaches and genetic insights in Stargardt disease: A comprehensive review","volume":"25","author":"Ghenciu","year":"2024","journal-title":"Int J Mol Sci"},{"key":"bib67","doi-asserted-by":"publisher","first-page":"96","DOI":"10.12688\/openreseurope.13872.1","article-title":"The STArgardt Remofuscin Treatment Trial (STARTT): design and baseline characteristics of enrolled Stargardt patients","volume":"1","author":"Dhooge","year":"2021","journal-title":"Open Res Eur"},{"issue":"7","key":"bib68","first-page":"6097","article-title":"Safety and expression following subretinal administration of AAV.ABCA4.intein vectors in the non-human primate retina","volume":"65","author":"Leroy","year":"2024","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"7","key":"bib69","first-page":"6089","article-title":"Preclinical safety and efficacy of intein-based dual-AAV gene therapy for Stargardt disease","volume":"65","author":"Favre","year":"2024","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"3","key":"bib70","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1089\/nat.2024.0008","article-title":"Antisense oligonucleotide-based rescue of complex intronic splicing defects in ABCA4","volume":"34","author":"Corradi","year":"2024","journal-title":"Nucleic Acid Ther"},{"issue":"6","key":"bib71","doi-asserted-by":"publisher","first-page":"452","DOI":"10.3390\/genes10060452","article-title":"Antisense oligonucleotide screening to optimize the rescue of the splicing defect caused by the recurrent deep-intronic ABCA4 variant c.4539+2001G>A in Stargardt disease","volume":"10","author":"Garanto","year":"2019","journal-title":"Genes (Basel)"},{"issue":"8","key":"bib72","doi-asserted-by":"publisher","first-page":"1179","DOI":"10.3390\/biom11081179","article-title":"Therapy approaches for Stargardt disease","volume":"11","author":"Piotter","year":"2021","journal-title":"Biomolecules"},{"key":"bib73","article-title":"High-efficiency base editing for Stargardt disease in mice, non-human primates, and human retina tissue [published online ahead of print April 27, 2023]","author":"Muller","journal-title":"bioRxiv Preprint"},{"issue":"4","key":"bib74","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1080\/13816810.2018.1484931","article-title":"Investigation of the effect of dietary docosahexaenoic acid (DHA) supplementation on macular function in subjects with autosomal recessive Stargardt macular dystrophy","volume":"39","author":"MacDonald","year":"2018","journal-title":"Ophthalmic Genet"},{"issue":"3","key":"bib75","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1136\/bjophthalmol-2020-317712","article-title":"Randomised study evaluating the pharmacodynamics of emixustat hydrochloride in subjects with macular atrophy secondary to Stargardt disease","volume":"106","author":"Kubota","year":"2022","journal-title":"Br J Ophthalmol"},{"issue":"9967","key":"bib76","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1016\/S0140-6736(14)61376-3","article-title":"Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1\/2 studies","volume":"385","author":"Schwartz","year":"2015","journal-title":"Lancet"},{"issue":"6","key":"bib77","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1136\/bjophthalmol-2020-316225","article-title":"Long-term safety and tolerability of subretinal transplantation of embryonic stem cell-derived retinal pigment epithelium in Asian Stargardt disease patients","volume":"105","author":"Sung","year":"2021","journal-title":"Br J Ophthalmol"},{"issue":"2","key":"bib78","first-page":"10","article-title":"Stem Cell Ophthalmology Treatment Study (SCOTS): bone marrow-derived stem cells in the treatment of Stargardt Disease","volume":"8","author":"Weiss","year":"2021","journal-title":"Medicines (Basel)"},{"issue":"10","key":"bib79","doi-asserted-by":"publisher","first-page":"2461","DOI":"10.3390\/nu11102461","article-title":"Antioxidant saffron and central retinal function in ABCA4-related Stargardt macular dystrophy","volume":"11","author":"Piccardi","year":"2019","journal-title":"Nutrients"},{"issue":"100400","key":"bib80","doi-asserted-by":"crossref","first-page":"100400","DOI":"10.1016\/j.phanu.2024.100400","article-title":"Eicosapentaenoic acid-rich omega-3 fatty acids supplementation may improve vision in dry age-related macular degeneration or Stargardt disease, as shown in MADEOS, a prospective, randomized, multicentre, double-blind, placebo-controlled pilot study","volume":"29","author":"Prokopiou","year":"2024","journal-title":"PharmaNutrition"},{"issue":"2","key":"bib82","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1080\/13816810.2020.1855663","article-title":"Living with Stargardt disease: insights from patients and their parents","volume":"42","author":"Roborel de","year":"2021","journal-title":"Ophthalmic Genet"},{"issue":"3","key":"bib83","doi-asserted-by":"publisher","first-page":"101820","DOI":"10.1016\/j.dhjo.2025.101820","article-title":"Navigating a hidden disability: Lived experiences and challenges of adults with early stage inherited retinal diseases","volume":"18","author":"Bakir","year":"2025","journal-title":"Disabil Health J"},{"issue":"6","key":"bib84","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1111\/opo.12647","article-title":"The association between visual impairment and fatigue: a systematic review and meta-analysis of observational studies","volume":"39","author":"Schakel","year":"2019","journal-title":"Ophthalmic Physiol Opt"},{"key":"bib85","author":"Stargardt's Connected Toolkit"},{"issue":"2","key":"bib86","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1016\/j.ophtha.2015.07.009","article-title":"High prevalence of untreated depression in patients accessing low-vision services","volume":"123","author":"Nollett","year":"2016","journal-title":"Ophthalmology"},{"key":"bib87","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.mhpa.2017.09.001","article-title":"Physical activity and symptoms of anxiety and depression in adults with and without visual impairments: The HUNT Study","volume":"13","author":"Brunes","year":"2017","journal-title":"Ment Health Phys Act"},{"issue":"2","key":"bib88","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1111\/opo.12784","article-title":"The development of posttraumatic stress disorder in individuals with visual impairment: a systematic search and review","volume":"41","author":"van der Ham","year":"2021","journal-title":"Ophthalmic Physiol Opt"},{"issue":"6","key":"bib89","doi-asserted-by":"publisher","first-page":"3613","DOI":"10.1167\/iovs.10-7127","article-title":"The impact of vision impairment on vision-specific quality of life in Germany","volume":"52","author":"Finger","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"4","key":"bib90","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1080\/14733145.2012.663776","article-title":"Emotional support and counselling for people with visual impairment: Quantitative findings from a mixed methods pilot study","volume":"12","author":"Barr","year":"2012","journal-title":"Couns Psychother Res"},{"issue":"1","key":"bib91","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1177\/0264619612465168","article-title":"Exploring the role of an emotional support and counselling service for people with visual impairments","volume":"31","author":"Hodge","year":"2013","journal-title":"Br J Vis Impair"},{"issue":"10","key":"bib92","doi-asserted-by":"publisher","first-page":"1557","DOI":"10.1111\/j.1532-5415.2006.00881.x","article-title":"Age-related macular degeneration: self-management and reduction of depressive symptoms in a randomized, controlled study","volume":"54","author":"Brody","year":"2006","journal-title":"J Am Geriatr Soc"},{"issue":"1","key":"bib93","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1001\/archopht.123.1.46","article-title":"Self-management of age-related macular degeneration at the 6-month follow-up: a randomized controlled trial","volume":"123","author":"Brody","year":"2005","journal-title":"Arch Ophthalmol"},{"issue":"8","key":"bib94","doi-asserted-by":"publisher","first-page":"1649","DOI":"10.1016\/j.ophtha.2013.01.022","article-title":"Improving function in age-related macular degeneration: a randomized clinical trial","volume":"120","author":"Rovner","year":"2013","journal-title":"Ophthalmology"},{"issue":"6","key":"bib95","doi-asserted-by":"publisher","first-page":"1150","DOI":"10.1016\/j.pec.2019.01.014","article-title":"Effectiveness of the \u201cliving successfully with low vision\u201d self-management program: results from a randomized controlled trial in Singaporeans with low vision","volume":"102","author":"Tey","year":"2019","journal-title":"Patient Educ Couns"},{"issue":"2","key":"bib96","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1016\/j.pec.2014.11.008","article-title":"A randomised controlled trial of a self-management programme for low vision implemented in low vision rehabilitation services","volume":"98","author":"Rees","year":"2015","journal-title":"Patient Educ Couns"},{"issue":"10","key":"bib97","doi-asserted-by":"publisher","first-page":"1596","DOI":"10.1177\/0269215519858714","article-title":"\u201cCannot see? Use your strengths!\u201d A randomized controlled trial of strengths intervention for improving self-esteem among visually impaired individuals","volume":"33","author":"Matsuguma","year":"2019","journal-title":"Clin Rehabil"},{"issue":"16","key":"bib98","doi-asserted-by":"publisher","first-page":"1353","DOI":"10.1080\/09638280802572999","article-title":"Vision self-management for older adults: a pilot study","volume":"31","author":"Packer","year":"2009","journal-title":"Disabil Rehabil"},{"issue":"2","key":"bib99","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1136\/bjo.2008.147538","article-title":"Vision self-management for older adults: a randomised controlled trial","volume":"94","author":"Girdler","year":"2010","journal-title":"Br J Ophthalmol"},{"key":"bib100","doi-asserted-by":"crossref","first-page":"h6127","DOI":"10.1136\/bmj.h6127","article-title":"Stepped care for depression and anxiety in visually impaired older adults: multicentre randomised controlled trial","volume":"351","author":"van der Aa","year":"2015","journal-title":"BMJ"},{"issue":"9","key":"bib101","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1177\/0145482X0610000905","article-title":"Psychosocial intervention for age-related macular degeneration: a pilot project","volume":"100","author":"Wahl","year":"2006","journal-title":"J Vis Impair Blind"},{"issue":"7","key":"bib103","doi-asserted-by":"publisher","first-page":"e059970","DOI":"10.1136\/bmjopen-2021-059970","article-title":"\u201cIt was like being hit with a brick\u201d: a qualitative study on the effect of clinicians\u2019 delivery of a diagnosis of eye disease for patients in primary and secondary care","volume":"12","author":"Ferrey","year":"2022","journal-title":"BMJ Open"},{"key":"bib104","article-title":"A systematic review and meta-analysis of psychological interventions for persons with hearing or vision impairment: research gaps and call to action [published online ahead of print October 21, 2024]","author":"Hardt","journal-title":"Clin Psychol (New York)"},{"issue":"100557","key":"bib105","doi-asserted-by":"crossref","first-page":"100557","DOI":"10.1016\/j.invent.2022.100557","article-title":"The \u201cIn It Together\u201d digital intervention to treat distress among older adults with sensory loss and their spouses: Study protocol for a randomized controlled trial study","volume":"29","author":"\u00d8verup","year":"2022","journal-title":"Internet Interv"},{"issue":"1","key":"bib106","doi-asserted-by":"publisher","first-page":"966","DOI":"10.1186\/s13063-021-05935-w","article-title":"E-nergEYEze, a vision-specific eHealth intervention based on cognitive behavioral therapy and self-management to reduce fatigue in adults with visual impairment: study protocol for a randomized controlled trial","volume":"22","author":"Veldman","year":"2021","journal-title":"Trials"},{"issue":"3","key":"bib107","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/gerona\/glz148","article-title":"Self-reported vision impairment and subjective well-being in older adults: A longitudinal mediation analysis","volume":"75","author":"Xiang","year":"2020","journal-title":"J Gerontol A Biol Sci Med Sci"},{"issue":"4","key":"bib108","doi-asserted-by":"publisher","first-page":"1476","DOI":"10.1167\/iovs.06-0610","article-title":"The effectiveness of low-vision rehabilitation on participation in daily living and quality of life","volume":"48","author":"Lamoureux","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"4","key":"bib109","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1016\/j.survophthal.2019.01.010","article-title":"Interventions to improve functioning, participation, and quality of life in children with visual impairment: a systematic review","volume":"64","author":"Elsman","year":"2019","journal-title":"Surv Ophthalmol"},{"issue":"8","key":"bib111","doi-asserted-by":"publisher","first-page":"836","DOI":"10.1097\/OPX.0b013e31829d99ae","article-title":"Evaluation of an emotional support service for the visually impaired","volume":"90","author":"Latham","year":"2013","journal-title":"Optom Vis Sci"},{"key":"bib113","first-page":"026461962097215","article-title":"Examining peer support arrangements for students with visual impairment [published online ahead of print November 26, 2020]","author":"Tuttle","journal-title":"Br J Vis Impair"},{"issue":"9","key":"bib114","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1097\/OPX.0000000000001261","article-title":"How people with low vision achieve magnification in digital reading","volume":"95","author":"Granquist","year":"2018","journal-title":"Optom Vis Sci"},{"issue":"5","key":"bib115","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1111\/opo.12136","article-title":"Smartphone, tablet computer and e-reader use by people with vision impairment","volume":"34","author":"Crossland","year":"2014","journal-title":"Ophthalmic Physiol Opt"},{"issue":"6","key":"bib116","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1111\/cxo.12996","article-title":"How 16,000 people used a smartphone magnifier app in their daily lives","volume":"103","author":"Luo","year":"2020","journal-title":"Clin Exp Optom"},{"issue":"5","key":"bib117","doi-asserted-by":"publisher","first-page":"e26283","DOI":"10.2196\/26283","article-title":"Influence of COVID-19 lockdowns on the usage of a vision assistance app among global users with visual impairment: Big data analytics study","volume":"23","author":"Luo","year":"2021","journal-title":"J Med Internet Res"},{"issue":"9","key":"bib118","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1097\/OPX.0000000000001269","article-title":"Effectiveness of the apple iPad as a spot-reading magnifier","volume":"95","author":"Wittich","year":"2018","journal-title":"Optom Vis Sci"},{"issue":"9","key":"bib119","doi-asserted-by":"publisher","first-page":"694","DOI":"10.1097\/OPX.0000000000001278","article-title":"Low vision enhancement with head-mounted video display systems: Are we there yet?: Are we there yet?","volume":"95","author":"Deemer","year":"2018","journal-title":"Optom Vis Sci"},{"issue":"1","key":"bib120","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1097\/00006324-199201000-00005","article-title":"Obstacles encountered in the development of the low vision enhancement system","volume":"69","author":"Massof","year":"1992","journal-title":"Optom Vis Sci"},{"issue":"4","key":"bib121","doi-asserted-by":"publisher","first-page":"680","DOI":"10.1111\/opo.13117","article-title":"Are wearable electronic vision enhancement systems (wEVES) beneficial for people with age-related macular degeneration? A scoping review","volume":"43","author":"Miller","year":"2023","journal-title":"Ophthalmic Physiol Opt"},{"issue":"6","key":"bib122","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1111\/opo.12646","article-title":"Benefit of an electronic head-mounted low vision aid","volume":"39","author":"Crossland","year":"2019","journal-title":"Ophthalmic Physiol Opt"},{"issue":"12","key":"bib123","first-page":"764","article-title":"Veterans Affairs Multicenter Low Vision Enhancement System (LVES) study: clinical results. Report 1: effects of manual-focus LVES on visual acuity and contrast sensitivity","volume":"71","author":"Ballinger","year":"2000","journal-title":"Optometry"},{"issue":"1","key":"bib124","doi-asserted-by":"publisher","first-page":"57","DOI":"10.22599\/bioj.345","article-title":"Assessment of the impact of a head-mounted augmented reality low vision aid on vision and quality of life in children and young people with visual impairment","volume":"20","author":"Cottingham","year":"2024","journal-title":"Br Ir Orthopt J"},{"issue":"9","key":"bib125","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1097\/OPX.0000000000001262","article-title":"The effect of a head-mounted low vision device on visual function","volume":"95","author":"Wittich","year":"2018","journal-title":"Optom Vis Sci"},{"key":"bib126","doi-asserted-by":"publisher","first-page":"271","DOI":"10.2147\/OPTO.S434404","article-title":"At-home trial of four different head-mounted displays in visual rehabilitation of people with Stargardt disease","volume":"15","author":"Schmidt","year":"2023","journal-title":"Clin Optom (Auckl)"},{"issue":"1","key":"bib127","doi-asserted-by":"publisher","first-page":"10752","DOI":"10.1038\/s41598-022-14489-z","article-title":"Clinical performance of a smartphone-based low vision aid","volume":"12","author":"Yeo","year":"2022","journal-title":"Sci Rep"},{"issue":"2","key":"bib128","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1111\/opo.12778","article-title":"Design considerations for the ideal low vision aid: insights from de-brief interviews following a real-world recording study","volume":"41","author":"Golubova","year":"2021","journal-title":"Ophthalmic Physiol Opt"},{"issue":"19","key":"bib129","doi-asserted-by":"publisher","first-page":"4476","DOI":"10.1080\/09638288.2023.2278179","article-title":"\u201cI'm like something out of Star Wars\u201d: a qualitative investigation of the views of people with age-related macular degeneration regarding wearable electronic vision enhancement systems","volume":"46","author":"Miller","year":"2024","journal-title":"Disabil Rehabil"},{"issue":"17","key":"bib130","doi-asserted-by":"publisher","first-page":"2472","DOI":"10.1080\/09638288.2019.1704892","article-title":"Factors related to the use of a head-mounted display for individuals with low vision","volume":"43","author":"Lorenzini","year":"2021","journal-title":"Disabil Rehabil"},{"issue":"5","key":"bib131","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1111\/opo.13329","article-title":"Performance on clinical outcomes, activities of daily living and user experience on head-mounted displays for people with vision impairment","volume":"44","author":"van der Aa","year":"2024","journal-title":"Ophthalmic Physiol Opt"},{"key":"bib132","first-page":"197","article-title":"Scene text access: A comparison of mobile OCR modalities for blind users","volume":"2019","author":"Neat","year":"2019","journal-title":"IUI"},{"issue":"4","key":"bib133","doi-asserted-by":"publisher","first-page":"e986","DOI":"10.1111\/aos.15001","article-title":"Artificial vision: the effectiveness of the OrCam in patients with advanced inherited retinal dystrophies","volume":"100","author":"Nguyen","year":"2022","journal-title":"Acta Ophthalmol"},{"issue":"4","key":"bib134","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1177\/0145482X211027492","article-title":"Evaluation and comparison of artificial intelligence vision aids: Orcam MyEye 1 and Seeing AI","volume":"115","author":"Granquist","year":"2021","journal-title":"J Vis Impair Blind"},{"issue":"7","key":"bib136","doi-asserted-by":"publisher","first-page":"254","DOI":"10.3390\/fi16070254","article-title":"Human\u2013AI collaboration for remote sighted assistance: perspectives from the LLM era","volume":"16","author":"Yu","year":"2024","journal-title":"Future Internet"},{"issue":"2","key":"bib137","doi-asserted-by":"publisher","first-page":"fcaa117","DOI":"10.1093\/braincomms\/fcaa117","article-title":"Effect of smoking on macular function and retinal structure in retinitis pigmentosa","volume":"2","author":"Oishi","year":"2020","journal-title":"Brain Commun"},{"issue":"1","key":"bib138","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1186\/s12886-016-0187-3","article-title":"Dietary profile of patients with Stargardt's disease and retinitis pigmentosa: is there a role for a nutritional approach?","volume":"16","author":"Sofi","year":"2016","journal-title":"BMC Ophthalmol"},{"issue":"11","key":"bib139","doi-asserted-by":"publisher","first-page":"1640","DOI":"10.1016\/j.ophtha.2017.04.026","article-title":"Visual acuity change over 12 months in the prospective progression of atrophy secondary to Stargardt disease (ProgStar) study: ProgStar report number 6","volume":"124","author":"Kong","year":"2017","journal-title":"Ophthalmology"},{"issue":"9","key":"bib140","doi-asserted-by":"publisher","first-page":"3821","DOI":"10.1167\/iovs.07-1470","article-title":"Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following vitamin A supplementation","volume":"49","author":"Radu","year":"2008","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"16","key":"bib141","doi-asserted-by":"publisher","first-page":"5928","DOI":"10.1073\/pnas.0308302101","article-title":"Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration","volume":"101","author":"Radu","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"issue":"12","key":"bib142","doi-asserted-by":"publisher","first-page":"2111","DOI":"10.3390\/antiox12122111","article-title":"Lipofuscin, its origin, properties, and contribution to retinal fluorescence as a potential biomarker of oxidative damage to the retina","volume":"12","author":"R\u00f3zanowska","year":"2023","journal-title":"Antioxidants (Basel)"},{"issue":"5","key":"bib143","doi-asserted-by":"publisher","first-page":"964","DOI":"10.1016\/j.ajo.2015.02.004","article-title":"The effect of light deprivation in patients with Stargardt disease","volume":"159","author":"Teussink","year":"2015","journal-title":"Am J Ophthalmol"},{"issue":"7","key":"bib145","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1111\/ceo.14110","article-title":"VENTURE Study Consortium. Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics","volume":"50","author":"Britten-Jones","year":"2022","journal-title":"Clin Experiment Ophthalmol"},{"issue":"1","key":"bib146","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1186\/s13023-020-01591-6","article-title":"Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT","volume":"15","author":"Marques","year":"2020","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"bib147","doi-asserted-by":"publisher","first-page":"100098","DOI":"10.1016\/j.apjo.2024.100098","article-title":"Practice patterns and challenges in managing inherited retinal diseases across Asia-Pacific: A survey from the APIED network","volume":"13","author":"Wong","year":"2024","journal-title":"Asia Pac J Ophthalmol (Phila)"},{"issue":"3","key":"bib148","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1002\/ajmg.c.31825","article-title":"Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation","volume":"184","author":"Mansfield","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"5","key":"bib149","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1001\/jamaophthalmol.2024.0660","article-title":"Representation of women among individuals with mild variants in ABCA4-associated retinopathy: A meta-analysis: A meta-analysis","volume":"142","author":"Cornelis","year":"2024","journal-title":"JAMA Ophthalmol"},{"issue":"1","key":"bib150","doi-asserted-by":"publisher","first-page":"5403","DOI":"10.1038\/s41598-024-56121-2","article-title":"Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey","volume":"14","author":"Britten-Jones","year":"2024","journal-title":"Sci Rep"},{"issue":"11","key":"bib151","doi-asserted-by":"publisher","first-page":"1209","DOI":"10.1038\/ejhg.2013.19","article-title":"Understanding the impact of genetic testing for inherited retinal dystrophy","volume":"21","author":"Combs","year":"2013","journal-title":"Eur J Hum Genet"},{"issue":"8","key":"bib152","doi-asserted-by":"publisher","first-page":"100160","DOI":"10.1016\/j.labinv.2023.100160","article-title":"Haplotyping using long-range PCR and nanopore sequencing to phase variants: lessons learned from the ABCA4 locus","volume":"103","author":"McClinton","year":"2023","journal-title":"Lab Invest"},{"key":"bib154","doi-asserted-by":"publisher","first-page":"2217","DOI":"10.2147\/OPTH.S465930","article-title":"The landscape of genomic services for inherited retinal degenerations (IRDs) across Europe","volume":"18","author":"Paudel","year":"2024","journal-title":"Clin Ophthalmol"},{"issue":"6","key":"bib155","doi-asserted-by":"publisher","first-page":"993","DOI":"10.1038\/s41433-019-0704-8","article-title":"The integration of genomics into clinical ophthalmic services in the UK","volume":"34","author":"Black","year":"2020","journal-title":"Eye (Lond)"},{"issue":"4","key":"bib156","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1001\/jamaophthalmol.2021.0004","article-title":"Association of no-cost genetic testing program implementation and patient characteristics with access to genetic testing for inherited retinal degenerations","volume":"139","author":"Zhao","year":"2021","journal-title":"JAMA Ophthalmol"},{"issue":"1","key":"bib157","doi-asserted-by":"crossref","first-page":"100287","DOI":"10.1016\/j.gimo.2023.100287","article-title":"P259: The impact of no-cost testing programs for inherited retinal degeneration on post-testing follow-up genetic services","author":"O'Connell","year":"2023","journal-title":"Genetics in Medicine Open"},{"issue":"8","key":"bib158","doi-asserted-by":"publisher","first-page":"888","DOI":"10.3390\/genes16080888","article-title":"Panel-based genetic testing in a consecutive series of individuals with inherited retinal diseases in Australia: identifying predictors of a diagnosis","volume":"16","author":"Britten-Jones","year":"2025","journal-title":"Genes (Basel)"},{"issue":"1","key":"bib159","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1159\/000537818","article-title":"Genetic testing experiences of people living with inherited retinal degenerations: results of a global survey","volume":"67","author":"Paudel","year":"2024","journal-title":"Ophthalmic Res"},{"key":"bib160","article-title":"Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI [published online ahead of print June 26, 2025]","author":"Wong","journal-title":"Br J Ophthalmol"},{"issue":"3","key":"bib161","doi-asserted-by":"publisher","first-page":"e071043","DOI":"10.1136\/bmjopen-2022-071043","article-title":"Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)","volume":"13","author":"Nguyen","year":"2023","journal-title":"BMJ Open"},{"issue":"6","key":"bib162","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1038\/s42256-025-01040-8","article-title":"Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene","volume":"7","author":"Pontikos","year":"2025","journal-title":"Nat Mach Intell"},{"key":"bib6","first-page":"135","article-title":"Retinal dystrophies and degenerations","volume-title":"Retinal Dystrophies and Degenerations","author":"Blacharski","year":"1988"},{"key":"bib33","first-page":"1486","article-title":"Detection rate pathogenic mutations ABCA4 using direct sequencing: clinical research implications","volume-title":"Arch Ophthalmol","author":"Downes","year":"2012"},{"key":"bib45","article-title":"Sequence Variant Interpretation","author":"Clinical Genome Resource"},{"key":"bib81","author":"Eye Clinic Liaison Officer (ECLO) service UK Evaluation Report. RNIB"},{"key":"bib102","author":"ASEAN Journal of Psychiatry and Mental Health"},{"key":"bib110","volume-title":"Fragmented Vision: Survey of Low Vision Services in the UK","author":"Ryan","year":"1999"},{"key":"bib112","volume-title":"Co-Designing a Peer Support Platform for People with Low Vision & Blindness","author":"McCosker","year":"2020"},{"key":"bib135","first-page":"1","article-title":"Investigating use cases of AI-powered scene description applications for blind and low vision people","volume-title":"Proceedings of the CHI Conference on Human Factors in Computing Systems","author":"Gonzalez Penuela","year":"2024"},{"key":"bib144","article-title":"Can blocking light below 460 Nm protect the retina from light-induced injury in mouse models of Stargardt's disease? Presented at the ARVO Annual Meeting","volume-title":"Invest Ophthalmol Vis Sci","author":"Rozanowska","year":"2025"},{"key":"bib153","first-page":"550","article-title":"Current management of inherited retinal degeneration patients in Europe: results of a 2-year follow-up multinational survey by the European vision institute clinical research network - EVICR","volume-title":"Net. Ophthalmic Res","author":"Lorenz","year":"2023"}],"container-title":["Translational Vision Science & Technology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/tvst.arvojournals.org\/article.aspx?articleid=2810840","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T12:30:50Z","timestamp":1758112250000},"score":1,"resource":{"primary":{"URL":"https:\/\/tvst.arvojournals.org\/article.aspx?articleid=2810840"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,17]]},"references-count":162,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9,2]]}},"URL":"https:\/\/doi.org\/10.1167\/tvst.14.9.26","relation":{},"ISSN":["2164-2591"],"issn-type":[{"value":"2164-2591","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9,17]]}}}