{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:04:33Z","timestamp":1790697873213,"version":"4.1.0"},"reference-count":10,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T00:00:00Z","timestamp":1778457600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["K23 NS118045"],"award-info":[{"award-number":["K23 NS118045"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"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 atypical peripapillary retinal changes and neuroimaging findings in a patient with Gordon Holmes syndrome associated with compound heterozygous\n                    <jats:italic toggle=\"yes\">PNPLA6<\/jats:italic>\n                    variants, expanding the ophthalmic phenotype of this rare disorder.\n                    <jats:bold>Methods:<\/jats:bold>\n                    A single case was reviewed.\n                    <jats:bold>Results:<\/jats:bold>\n                    A 31-year-old woman with Gordon Holmes syndrome was referred for ophthalmic evaluation. Fundus autofluorescence imaging demonstrated atrophic peripapillary retinal pigment epithelial changes without central chorioretinal atrophy, distinguishing it from the phenotype typically seen in Boucher\u2013Neuh\u00e4user syndrome. Magnetic resonance imaging (MRI) of the brain revealed cerebellar atrophy and marked bilateral T2 hyperintensities in the basis pontis. Over 8 years of follow-up, visual acuity remained stable, with mild progression of pigment epithelial changes.\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    Gordon Holmes syndrome may present with atypical peripapillary retinal changes and mild pigmentary retinopathy without clinically significant visual loss. These previously unrecognized retinal findings, along with atypical MRI features, broaden the ophthalmologic and neuroimaging spectrum of\n                    <jats:italic toggle=\"yes\">PNPLA6<\/jats:italic>\n                    -related disorders. Recognition of these manifestations may help ophthalmologists diagnose such rare neurodegenerative conditions.\n                  <\/jats:p>","DOI":"10.1177\/24741264261442895","type":"journal-article","created":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T06:38:14Z","timestamp":1778567894000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Retinal Pigment Epithelial Changes in Gordon Holmes Syndrome"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1281-156X","authenticated-orcid":false,"given":"Edward S.","family":"Lu","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3636-6149","authenticated-orcid":false,"given":"Lindsay Klofas","family":"Kozek","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9774-1491","authenticated-orcid":false,"given":"Luis","family":"Martinez-Velazquez","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher D.","family":"Stephen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dean","family":"Eliott","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,5,11]]},"reference":[{"key":"e_1_3_2_2_2","unstructured":"Synofzik M Hufnagel RB Z\u00fcchner S. PNPLA6 disorders. In: Adam MP Feldman J Mirzaa GM Pagon RA Wallace SE Amemiya A eds. GeneReviews\u00ae. University of Washington; 1993. Accessed December 18 2024. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK247161\/"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt326"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7516-3"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2023.2254830"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102856"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0002-9394(14)72612-1"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2020.108327"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.4103\/aomd.aomd_41_24"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awae055"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","unstructured":"Ono T Taketomi Y Higashi T et al. PNPLA6 regulates retinal homeostasis by choline through phospholipid turnover. Nat Commun. 2025;16(1):2221. doi:10.1038\/s41467-025-57402-8","DOI":"10.1038\/s41467-025-57402-8"}],"container-title":["Journal of VitreoRetinal Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264261442895","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/24741264261442895","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264261442895","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:24:41Z","timestamp":1790695481000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/24741264261442895"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,11]]},"references-count":10,"alternative-id":["10.1177\/24741264261442895"],"URL":"https:\/\/doi.org\/10.1177\/24741264261442895","relation":{},"ISSN":["2474-1264","2474-1272"],"issn-type":[{"value":"2474-1264","type":"print"},{"value":"2474-1272","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,11]]},"article-number":"24741264261442895"}}