{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:04:32Z","timestamp":1790697872832,"version":"4.1.0"},"reference-count":7,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T00:00:00Z","timestamp":1778803200000},"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":["Journal of VitreoRetinal Diseases"],"abstract":"<jats:p>\n                    <jats:bold>Purpose:<\/jats:bold>\n                    To describe a previously unreported association between sclerochoroidal calcification and hepatocyte nuclear factor-1\u03b2 deficiency syndrome.\n                    <jats:bold>Methods:<\/jats:bold>\n                    A single case was reviewed.\n                    <jats:bold>Results:<\/jats:bold>\n                    A 66-year-old man with a history of diabetes mellitus, chronic kidney disease, renal cysts, and prior prostate cancer was found to have bilateral superotemporal placoid sclerochoroidal lesions during routine follow-up. Fundus autofluorescence demonstrated corresponding hyperautofluorescent foci, and optical coherence tomography revealed hyperreflective scleral elevations with posterior shadowing and focal ellipsoid zone disruption. Previous genetic testing identified a pathogenic hepatocyte nuclear factor-1\u03b2 stop codon variant. The lesions remained stable over 2 years, without evidence of choroidal neovascularization.\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    This case broadens the spectrum of systemic associations with bilateral sclerochoroidal calcification and suggests hepatocyte nuclear factor-1\u03b2 deficiency syndrome as a potential underlying etiology in patients presenting with bilateral sclerochoroidal calcification and concurrent renal or metabolic abnormalities.\n                  <\/jats:p>","DOI":"10.1177\/24741264261445188","type":"journal-article","created":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T01:32:13Z","timestamp":1778895133000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Sclerochoroidal Calcification in Hepatocyte Nuclear Factor-1\u03b2 Deficiency Syndrome: A Novel Association"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8226-5672","authenticated-orcid":false,"given":"John","family":"Placide","sequence":"first","affiliation":[{"name":"Casey Eye Institute, Oregon Health &amp; Science University, Portland, OR, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brandon","family":"Kennedy","sequence":"additional","affiliation":[{"name":"Casey Eye Institute, Oregon Health &amp; Science University, Portland, OR, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aristomenis","family":"Thanos","sequence":"additional","affiliation":[{"name":"Devers Eye Institute, Legacy Health System, Portland, OR, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,5,15]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.63.3.177"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.2147\/OPTH.S399058"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2014.232"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1159\/000398819"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ekir.2019.05.019"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1200853109"},{"key":"e_1_3_2_8_2","volume-title":"GeneReviews\u00ae","author":"Mitchel MW","unstructured":"Mitchel MW, Moreno-De-Luca D, Myers SM, et al. 17q12 recurrent deletion syndrome. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. GeneReviews\u00ae [Internet]. University of Washington; 1993-2026."}],"container-title":["Journal of VitreoRetinal Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264261445188","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/24741264261445188","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264261445188","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:24:39Z","timestamp":1790695479000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/24741264261445188"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,15]]},"references-count":7,"alternative-id":["10.1177\/24741264261445188"],"URL":"https:\/\/doi.org\/10.1177\/24741264261445188","relation":{},"ISSN":["2474-1264","2474-1272"],"issn-type":[{"value":"2474-1264","type":"print"},{"value":"2474-1272","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,15]]},"article-number":"24741264261445188"}}