{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T03:38:58Z","timestamp":1790566738791,"version":"4.1.0"},"reference-count":8,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T00:00:00Z","timestamp":1739318400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T00:00:00Z","timestamp":1739318400000},"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":[[2025,5]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Torpedo maculopathy (TM) is a rare, typically benign and congenital anomaly of the retinal pigment epithelium (RPE) characterized by a torpedo-shaped lesion in the macula. DeSanto-Shinawi syndrome (DESS) is an equally rare genetic disorder caused by mutations in the WAC gene, presenting with intellectual disability, dysmorphic features, and growth retardation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case description<\/jats:title>\n                    <jats:p>This report illustrates the case of monolateral TM in a patient with DESS. The genetic and phenotypic characteristic were described and correlated with retinal features, assessed by means of retinography, spectral domain OCT (SD-OCT) and fluorescein angiography (FA).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case report discusses the unusual co-occurrence of TM in a patient diagnosed with DESS, contributing to the sparse literature on this association and expanding the phenotypic spectrum of both conditions.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11206721251313840","type":"journal-article","created":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T05:49:51Z","timestamp":1739339391000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Torpedo maculopathy in a patient with DeSanto-Shinawi syndrome"],"prefix":"10.1177","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0449-969X","authenticated-orcid":false,"given":"Sergio","family":"Petroni","sequence":"first","affiliation":[{"name":"Bambino Ges\u00f9 Children's Hospital, IRCCS"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gino","family":"Catena","sequence":"additional","affiliation":[{"name":"Bambino Ges\u00f9 Children's Hospital, IRCCS"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Iarossi","sequence":"additional","affiliation":[{"name":"Bambino Ges\u00f9 Children's Hospital, IRCCS"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Federici","sequence":"additional","affiliation":[{"name":"Bambino Ges\u00f9 Children's Hospital, IRCCS"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetano","family":"Zinzanella","sequence":"additional","affiliation":[{"name":"Bambino Ges\u00f9 Children's Hospital, IRCCS"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo Maria","family":"De Sanctis","sequence":"additional","affiliation":[{"name":"Bambino Ges\u00f9 Children's Hospital, IRCCS"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Valente","sequence":"additional","affiliation":[{"name":"Bambino Ges\u00f9 Children's Hospital, IRCCS"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3200-3260","authenticated-orcid":false,"given":"Luca","family":"Buzzonetti","sequence":"additional","affiliation":[{"name":"Bambino Ges\u00f9 Children's Hospital, IRCCS"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,2,12]]},"reference":[{"key":"e_1_3_2_2_2","first-page":"1358","article-title":"Solitary hypopigmented nevus of the retinal pigment epithelium in the macula","volume":"110","author":"Roseman RL","unstructured":"Roseman RL, Gass JD. Solitary hypopigmented nevus of the retinal pigment epithelium in the macula. Arch Ophthalmol 1992 Oct; 110: 1358\u20131359.","journal-title":"Arch Ophthalmol"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2010.29"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-014-9472-8"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1159\/000498835"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41433-021-01714-8"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103069"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.279"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62571"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721251313840","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11206721251313840","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721251313840","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T19:47:13Z","timestamp":1777405633000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/11206721251313840"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,12]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1177\/11206721251313840"],"URL":"https:\/\/doi.org\/10.1177\/11206721251313840","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"value":"1120-6721","type":"print"},{"value":"1724-6016","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,12]]}}}