{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T20:33:02Z","timestamp":1777581182292,"version":"3.51.4"},"reference-count":10,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2021,4,19]],"date-time":"2021-04-19T00:00:00Z","timestamp":1618790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002878","name":"Consejer\u00eda de Econom\u00eda, Innovaci\u00f3n, Ciencia y Empleo, Junta de Andaluc\u00eda","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002878","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010566","name":"Consejer\u00eda de Salud, Junta de Andaluc\u00eda","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010566","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fundaci\u00f3n Isabel Gemio\/Fundaci\u00f3n Cajasol"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>\n                      To describe the clinical and genetic characteristics (novel mutation in\n                      <jats:italic>BEST1<\/jats:italic>\n                      gene) of a Spanish patient with autosomal recessive bestrophinopathy (ARB).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>The detailed ophthalmological examination included best corrected visual acuity (BCVA), color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. A next-generation sequencing (NGS) strategy was applied to the index patient, and then sequenced in an Illumina NextSeq500 system.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      A 55-year-old male presented with a BCVA of 20\/25 in the right eye and 20\/20 in the left eye. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence results were consistent with pattern dystrophy. A homozygous frameshift mutation in\n                      <jats:italic>BEST1<\/jats:italic>\n                      (c.341_342del; p.(Leu114Glnfs*57)) was identified as the cause of the disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>ARB is a genetic disease that leads to irreversible visual loss. In this report we found a novel mutation responsible for this disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11206721211010615","type":"journal-article","created":{"date-parts":[[2021,4,19]],"date-time":"2021-04-19T05:01:06Z","timestamp":1618808466000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel\n                    <i>BEST1<\/i>\n                    mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient"],"prefix":"10.1177","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1958-5072","authenticated-orcid":false,"given":"Marina","family":"Soto-Sierra","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Morillo-S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Mart\u00edn-S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville, University Hospital Virgen del Roc\u00edo\/CSIC\/University of Seville, Seville, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"Ramos-Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology, University Hospital Virgen Macarena, Seville, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mireia","family":"L\u00f3pez-Dom\u00ednguez","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz","family":"Ponte-Zu\u00f1iga","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain"},{"name":"Retics Oftared, Institute Carlos III, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillermo","family":"Anti\u00f1olo","sequence":"additional","affiliation":[{"name":"Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville, University Hospital Virgen del Roc\u00edo\/CSIC\/University of Seville, Seville, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Seville, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrique","family":"Rodr\u00edguez-de-la-R\u00faa","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain"},{"name":"Retics Oftared, Institute Carlos III, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,4,19]]},"reference":[{"key":"e_1_3_2_2_2","first-page":"347","article-title":"Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium","volume":"21","author":"Marmorstein AD","year":"2015","unstructured":"Marmorstein AD, Kinnick TR, Stanton JB, et al. Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium. 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