{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:36:39Z","timestamp":1792787799935,"version":"4.5.0"},"reference-count":15,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T00:00:00Z","timestamp":1693699200000},"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":[[2024,3]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Adult-onset vitelliform macular dystrophy (AVMD) is an inherited maculopathy characterized by metamorphopsias and decrease in visual acuity occurring between the fourth and the sixth decade. It is characterized by an \u2018egg yolk\u2019 macular lesion eventually evolving towards foveal atrophy and fibrosis. It is usually an autosomal dominant inherited disorder with variable penetrance, mainly related to variants in BEST1, PRPH2, IMPG1, and IMPG2 genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case description<\/jats:title>\n                    <jats:p>A 47-year-old woman complaining of \u201cwavy\u201d vision was referred to our clinic. Her past medical history and reported family history did not reveal any ocular disease. Complete ophthalmological evaluation was performed. Funduscopic examination and multimodal imaging revealed a round vitelliform lesion in both eyes, leading to a diagnosis of AVMD. Genetic analysis revealed a novel, likely pathogenetic, heterozygous c.478G\u2009&gt;\u2009T (p.Glu160Ter), (NM_016247) variant in the IMPG2 gene.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Our patient exhibits a novel pathogenetic variant in a gene associated with AVMD. Heterozygous variants in the IMPG2 gene have been reported in multiple individuals with vitelliform macular dystrophy, with an autosomal dominant mode of inheritance. Genetic screening is essential to characterize patients, to predict vision loss in patients with a positive family history and to characterize eligible patients for new potential emerging therapies. Genotype-phenotype correlation studies are needed to have a clearer picture of pathogenetic mechanisms. Our study characterizes the phenotype related to a novel IMPG2 pathogenic variant through multimodal imaging.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11206721231199850","type":"journal-article","created":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T01:57:21Z","timestamp":1693792641000},"page":"NP1-NP4","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel\n                    <i>IMPG2<\/i>\n                    variant causing adult macular vitelliform dystrophy: A case report"],"prefix":"10.1177","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7307-2166","authenticated-orcid":false,"given":"Nicol\u00f2","family":"Ribarich","sequence":"first","affiliation":[{"name":"IRCCS San Raffaele Scientific Institute, Milan, Italy"},{"name":"Universit\u00e0 Vita-Salute San Raffaele, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Chiara","family":"Rivolta","sequence":"additional","affiliation":[{"name":"Universit\u00e0 Vita-Salute San Raffaele, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Sacconi","sequence":"additional","affiliation":[{"name":"IRCCS San Raffaele Scientific Institute, Milan, Italy"},{"name":"Universit\u00e0 Vita-Salute San Raffaele, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Querques","sequence":"additional","affiliation":[{"name":"IRCCS San Raffaele Scientific Institute, Milan, Italy"},{"name":"Universit\u00e0 Vita-Salute San Raffaele, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2023,9,3]]},"reference":[{"key":"bibr1-11206721231199850","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2016.1175645"},{"key":"bibr2-11206721231199850","doi-asserted-by":"publisher","DOI":"10.1097\/ICB.0000000000000824"},{"key":"bibr3-11206721231199850","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2015.02.001"},{"key":"bibr4-11206721231199850","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.87.6.758"},{"key":"bibr5-11206721231199850","first-page":"161","volume":"13","author":"Carnevali A","year":"2018","journal-title":"https:\/\/doi.org\/101080\/1746989920181483722"},{"key":"bibr6-11206721231199850","doi-asserted-by":"publisher","DOI":"10.1016\/j.jfo.2012.04.013"},{"key":"bibr7-11206721231199850","doi-asserted-by":"publisher","DOI":"10.1038\/S41598-017-09629-9"},{"key":"bibr8-11206721231199850","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2014.06.028"},{"key":"bibr9-11206721231199850","doi-asserted-by":"publisher","DOI":"10.3390\/GENES8070170"},{"key":"bibr10-11206721231199850","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24064"},{"key":"bibr11-11206721231199850","unstructured":"Interphotoreceptor Matrix Proteoglycan 1; IMPG1 \u2013 OMIM, https:\/\/www.omim.org\/entry\/602870?search=impg1&highlight=impg1 (accessed 30 March 2023)."},{"key":"bibr12-11206721231199850","unstructured":"Interphotoreceptor Matrix Proteoglycan 2; IMPG2 \u2013 OMIM, https:\/\/www.omim.org\/entry\/607056 (accessed 30 March 2023)."},{"key":"bibr13-11206721231199850","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-021-00835-9"},{"key":"bibr14-11206721231199850","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23158"},{"key":"bibr15-11206721231199850","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721231199850","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11206721231199850","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721231199850","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T19:45:28Z","timestamp":1777405528000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.sagepub.com\/doi\/10.1177\/11206721231199850"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,3]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1177\/11206721231199850"],"URL":"https:\/\/doi.org\/10.1177\/11206721231199850","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"value":"1120-6721","type":"print"},{"value":"1724-6016","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,3]]}}}