{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:58:47Z","timestamp":1791928727613,"version":"4.3.4"},"reference-count":21,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"3","license":[{"start":{"date-parts":[[2020,3,16]],"date-time":"2020-03-16T00:00:00Z","timestamp":1584316800000},"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":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2020,3,16]]},"DOI":"10.1167\/iovs.61.3.10","type":"journal-article","created":{"date-parts":[[2020,3,16]],"date-time":"2020-03-16T10:31:41Z","timestamp":1584354701000},"page":"10","source":"Crossref","is-referenced-by-count":10,"title":["Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy"],"prefix":"10.1167","volume":"61","author":[{"given":"Dan-Dan","family":"Wang","sequence":"first","affiliation":[{"name":"Eye and ENT Hospital, Shanghai Medical College, Fudan University,Shanghai, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China"},{"name":"Key Laboratory of Myopia, Ministry of Health, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng-Juan","family":"Gao","sequence":"additional","affiliation":[{"name":"Eye and ENT Hospital, Shanghai Medical College, Fudan University,Shanghai, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China"},{"name":"Key Laboratory of Myopia, Ministry of Health, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Kang","family":"Li","sequence":"additional","affiliation":[{"name":"BGI-Shenzhen, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Chen","sequence":"additional","affiliation":[{"name":"BGI-Shenzhen, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang-Yuan","family":"Hu","sequence":"additional","affiliation":[{"name":"Eye and ENT Hospital, Shanghai Medical College, Fudan University,Shanghai, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China"},{"name":"Key Laboratory of Myopia, Ministry of Health, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ge-Zhi","family":"Xu","sequence":"additional","affiliation":[{"name":"Eye and ENT Hospital, Shanghai Medical College, Fudan University,Shanghai, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China"},{"name":"Key Laboratory of Myopia, Ministry of Health, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Guo","family":"Zhang","sequence":"additional","affiliation":[{"name":"BGI-Shenzhen, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao-Xiang","family":"Sun","sequence":"additional","affiliation":[{"name":"Sonoma Academy, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng-Hai","family":"Zhang","sequence":"additional","affiliation":[{"name":"Eye and ENT Hospital, Shanghai Medical College, Fudan University,Shanghai, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China"},{"name":"Key Laboratory of Myopia, Ministry of Health, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Xu","sequence":"additional","affiliation":[{"name":"Eye and ENT Hospital, Shanghai Medical College, Fudan University,Shanghai, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China"},{"name":"Key Laboratory of Myopia, Ministry of Health, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guo-Hong","family":"Tian","sequence":"additional","affiliation":[{"name":"Eye and ENT Hospital, Shanghai Medical College, Fudan University,Shanghai, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China"},{"name":"Key Laboratory of Myopia, Ministry of Health, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji-Hong","family":"Wu","sequence":"additional","affiliation":[{"name":"Eye and ENT Hospital, Shanghai Medical College, Fudan University,Shanghai, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China"},{"name":"Key Laboratory of Myopia, Ministry of Health, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1016\/0002-9394(89)90120-7","article-title":"Hereditary macular dystrophy without visible fundus abnormality","volume":"108","author":"Miyake","year":"1989","journal-title":"Am J Ophthalmol"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1136\/bjo.83.7.878b","article-title":"Multifocal electroretinography in patients with occult macular dystrophy","volume":"83","author":"Fujii","year":"1999","journal-title":"Br J Ophthalmol"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1001\/jamaophthalmol.2013.172","article-title":"Multimodal imaging of occult macular dystrophy","volume":"131","author":"Ahn","year":"2013","journal-title":"JAMA Ophthalmol"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"1432","DOI":"10.1016\/j.ophtha.2019.04.032","article-title":"Clinical and genetic characteristics of East Asian patients with occult macular dystrophy (Miyake disease); EAOMD Report No.1","volume":"26","author":"Fujinami","year":"2019","journal-title":"Ophthalmology"},{"key":"bib5","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1016\/j.ajhg.2010.08.009","article-title":"Dominant mutations in RP1L1 are responsible for occult macular dystrophy","volume":"87","author":"Akahori","year":"2010","journal-title":"Am J Hum Genet"},{"key":"bib6","first-page":"129","article-title":"Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene","volume":"9","author":"Bowne","year":"2003","journal-title":"Mol Vis"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"9748","DOI":"10.1523\/JNEUROSCI.5854-08.2009","article-title":"Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa","volume":"29","author":"Yamashita","year":"2009","journal-title":"J Neurosci"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1007\/s10384-015-0371-7","article-title":"Occult macular dystrophy","volume":"59","author":"Miyake","year":"2015","journal-title":"Jpn J Ophthalmol"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1038\/sj.ejhg.5200942","article-title":"Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations","volume":"11","author":"Conte","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"3041","DOI":"10.1167\/iovs.18-24033","article-title":"Phenotype variations caused by mutations in the RP1L1 gene in a large mainly German cohort","volume":"59","author":"Zobor","year":"2018","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1002\/humu.22264","article-title":"RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy","volume":"34","author":"Davidson","year":"2013","journal-title":"Hum Mutat"},{"key":"bib12","doi-asserted-by":"publisher","first-page":"4837","DOI":"10.1167\/iovs.16-19670","article-title":"Novel RP1L1 variants and genotype-photoreceptor microstructural phenotype associations in cohort of Japanese patients with occult macular dystrophy","volume":"57","author":"Fujinami","year":"2016","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib13","doi-asserted-by":"crossref","first-page":"545243","DOI":"10.1155\/2015\/545243","article-title":"Cone dystrophy in patient with homozygous RP1L1 mutation","volume":"2015","author":"Kikuchi","year":"2015","journal-title":"Biomed Res Int"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"127","DOI":"10.3109\/13816810.2016.1151898","article-title":"Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy","volume":"38","author":"Liu","year":"2017","journal-title":"Ophthalmic Genet"},{"issue":"suppl 1","key":"bib15","doi-asserted-by":"publisher","first-page":"S65","DOI":"10.1097\/ICB.0000000000000406","article-title":"Occult macular dystrophy with mutations in the RP1L1 and KCNV2 genes","volume":"11","author":"Agange","year":"2017","journal-title":"Retin Cases Brief Rep"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1097\/ICB.0000000000000548","article-title":"Clinical features in a case of occult macular dystrophy with RP1L1 mutation","volume":"13","author":"Fu","year":"2019","journal-title":"Retin Cases Brief Rep"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"107","DOI":"10.3389\/fgene.2017.00107","article-title":"Next-generation sequencing-aided rapid molecular diagnosis of occult macular dystrophy in a Chinese family","volume":"8","author":"Qi","year":"2017","journal-title":"Front Genet"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"976","DOI":"10.4161\/cc.5.9.2715","article-title":"Common and divergent roles for members of the mouse DCX superfamily","volume":"5","author":"Coquelle","year":"2006","journal-title":"Cell Cycle"},{"key":"bib19","first-page":"1031","article-title":"A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms","volume":"18","author":"Kabuto","year":"2012","journal-title":"Mol Vis"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"6020","DOI":"10.1167\/iovs.17-21969","article-title":"Parafoveal photoreceptor abnormalities in asymptomatic patients with RP1L1 mutations in families with occult macular dystrophy","volume":"58","author":"Kato","year":"2017","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1001\/archophthalmol.2011.96","article-title":"Fundus autofluorescence in autosomal dominant occult macular dystrophy","volume":"129","author":"Fujinami","year":"2011","journal-title":"Arch Ophthalmol"}],"container-title":["Investigative Opthalmology &amp; Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2763122","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:13Z","timestamp":1791927073000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2763122"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,16]]},"references-count":21,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,3,9]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.61.3.10","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2020,3,16]]}}}