{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T20:41:39Z","timestamp":1777581699765,"version":"3.51.4"},"reference-count":6,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2024,4,13]],"date-time":"2024-04-13T00:00:00Z","timestamp":1712966400000},"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":[[2024,7]]},"abstract":"\n Introduction<\/jats:title>\n Spastic paraplegia (SPG) is a heterogenous group of neurodegenerative disorders, that may include ocular involvement. Here we report the clinical data of a patient with late-onset Kjellin syndrome, a peculiar form of hereditary SPG with macular dystrophy.<\/jats:p>\n <\/jats:sec>\n \n Materials and Methods<\/jats:title>\n Clinical, functional and multimodal retinal imaging data were collected. Genetic testing was performed by Whole Exome Sequencing (WES).<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n A 52-year-old female patient with SPG of unknown origin was referred for a progressive visual acuity loss. Multimodal fundus imaging revealed a peculiar macular dystrophy. Given the specific association of macular dystrophy and SPG, a Kjellin syndrome was suspected and genetic testing performed. WES revealed biallelic pathogenic variants in SPG11, co-segregating with disease in the family.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n Careful ophthalmological examination prompted the diagnosis and guided molecular testing. This case underlines the importance of a neuro-ophthalmologic assessment in patients with SPG.<\/jats:p>\n <\/jats:sec>","DOI":"10.1177\/11206721241247418","type":"journal-article","created":{"date-parts":[[2024,4,13]],"date-time":"2024-04-13T04:31:40Z","timestamp":1712982700000},"page":"NP44-NP46","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination"],"prefix":"10.1177","volume":"34","author":[{"given":"Vincent","family":"Brock","sequence":"first","affiliation":[{"name":"Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Wissocq","sequence":"additional","affiliation":[{"name":"Service de Toxicologie et G\u00e9nopathies, CHU de Lille, Lille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Geoffre","sequence":"additional","affiliation":[{"name":"Service de Toxicologie et G\u00e9nopathies, CHU de Lille, Lille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Marks","sequence":"additional","affiliation":[{"name":"Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Canel","sequence":"additional","affiliation":[{"name":"Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Huin","sequence":"additional","affiliation":[{"name":"Service de Toxicologie et G\u00e9nopathies, CHU de Lille, Lille, France"},{"name":"Univ. Lille, Inserm, CHU Lille, U1172 - LilNCog (JPARC) - Lille Neurosciences & Cognition, Lille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4172-514X","authenticated-orcid":false,"given":"Vasily M","family":"Smirnov","sequence":"additional","affiliation":[{"name":"Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France"},{"name":"Univ. Lille, Inserm, CHU Lille, U1172 - LilNCog (JPARC) - Lille Neurosciences & Cognition, Lille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,4,13]]},"reference":[{"key":"bibr1-11206721241247418","volume-title":"GeneReviews\u00ae","author":"Hedera P","year":"1993"},{"key":"bibr2-11206721241247418","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1959.03840020007002"},{"key":"bibr3-11206721241247418","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm293"},{"key":"bibr4-11206721241247418","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.03.004"},{"key":"bibr5-11206721241247418","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21310"},{"key":"bibr6-11206721241247418","doi-asserted-by":"publisher","DOI":"10.1080\/00207454.2020.1838514"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721241247418","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11206721241247418","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721241247418","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T19:46:19Z","timestamp":1777405579000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/11206721241247418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,13]]},"references-count":6,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1177\/11206721241247418"],"URL":"https:\/\/doi.org\/10.1177\/11206721241247418","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"value":"1120-6721","type":"print"},{"value":"1724-6016","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,13]]}}}