{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T06:05:36Z","timestamp":1779084336680,"version":"3.51.4"},"reference-count":19,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2014,2,24]],"date-time":"2014-02-24T00:00:00Z","timestamp":1393200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>To report the phenotype of homozygous ABCA4 c.1937+1G&gt;A splice-site variant associated with Stargardt disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Two siblings, a 10-year-old boy and a 32-year-old woman, born from consanguineous parents, presented with central vision loss and macular pigmentary atrophic changes suggestive of Stargardt disease. After genetic counselling, ABCA4 gene analysis was performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The 2 siblings affected were shown to be homozygous for the c.1937+1G&gt;A splice junction variant of the ABCA4 gene. Both parents were heterozygous for the same mutation; they were asymptomatic and the fundus examination revealed a normal appearance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Thus far, ABCA4 c.1937+1G&gt;A splice-site variant was shown to cause retinitis pigmentosa when in hemizygosity and Stargardt disease when present on one allele. In this family two sibs homozygous for the ABCA4 c.1937+1G&gt;A splice-site variant have a less severe phenotype of Stargardt disease. This observation provides useful information for the diagnosis and counseling of patients with this ABCA4 variant.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.5301\/ejo.5000458","type":"journal-article","created":{"date-parts":[[2014,5,9]],"date-time":"2014-05-09T08:51:26Z","timestamp":1399625486000},"page":"814-817","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Homozygous c.1937+1G&gt;A Splice-Site Variant of the\n                    <i>ABCA4<\/i>\n                    gene is Associated with Stargardt Disease"],"prefix":"10.1177","volume":"24","author":[{"given":"Chiara M.","family":"Eandi","sequence":"first","affiliation":[{"name":"Department of Surgical Sciences, Eye Clinic, University of Torino, Torino - Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico M.","family":"Grignolo","sequence":"additional","affiliation":[{"name":"Department of Surgical Sciences, Eye Clinic, University of Torino, Torino - Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Passerini","sequence":"additional","affiliation":[{"name":"Department of Genetic Diagnosis, Azienda Ospedaliera-Universitaria Careggi, Firenze - Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristiana","family":"Marchese","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Azienda Ospedaliera Ordine Mauriziano, Torino - Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,2,24]]},"reference":[{"key":"bibr1-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0508"},{"key":"bibr2-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1038\/ng0397-236"},{"key":"bibr3-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1012354"},{"key":"bibr4-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80602-9"},{"key":"bibr5-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.3.355"},{"key":"bibr6-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5333.1805"},{"key":"bibr7-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq284"},{"key":"bibr8-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.11-8182"},{"key":"bibr9-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1159\/000086073"},{"key":"bibr10-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2009.35"},{"key":"bibr11-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1133"},{"key":"bibr12-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2008.145193"},{"key":"bibr13-ejo.5000458","first-page":"2819","volume":"43","author":"Fukui T","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bibr14-ejo.5000458","first-page":"584","volume":"15","author":"Maia-Lopes S","year":"2009","journal-title":"Mol Vis"},{"key":"bibr15-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.05-0504"},{"key":"bibr16-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2011.643441"},{"key":"bibr17-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10263"},{"key":"bibr18-ejo.5000458","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-8"},{"key":"bibr19-ejo.5000458","first-page":"447","volume":"36","author":"Rozet JM","year":"1999","journal-title":"J Med Genet"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.5301\/ejo.5000458","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.5301\/ejo.5000458","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.5301\/ejo.5000458","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T19:37:54Z","timestamp":1777405074000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.5301\/ejo.5000458"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,24]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.5301\/ejo.5000458"],"URL":"https:\/\/doi.org\/10.5301\/ejo.5000458","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"value":"1120-6721","type":"print"},{"value":"1724-6016","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,24]]}}}