{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T02:20:05Z","timestamp":1790389205492,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,2,19]],"date-time":"2016-02-19T00:00:00Z","timestamp":1455840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005689","name":"G\u00f6teborgs L\u00e4kares\u00e4llskap","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005689","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To describe ophthalmological characteristics in children with Leigh syndrome (<jats:styled-content style=\"fixed-case\">LS<\/jats:styled-content>), an inherited, progressive, mitochondrial encephalomyopathy, at diagnosis and over time, and relate the results to causative genetic mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Forty\u2010four children with <jats:styled-content style=\"fixed-case\">LS<\/jats:styled-content> (19 females), with a median age of 2.4\u00a0years (range: 0.6\u201314.2\u00a0years) at diagnosis, were studied at the Queen Silvia Children's Hospital, Gothenburg, Sweden. Twenty\u2010eight children had known genetic defects. The children underwent an ophthalmological examination, including visual acuity (<jats:styled-content style=\"fixed-case\">VA<\/jats:styled-content>), eye motility, refraction, slit lamp examination, ophthalmoscopy and a full\u2010field electroretinogram (ff\u2010<jats:styled-content style=\"fixed-case\">ERG<\/jats:styled-content>). Seventeen children were available for follow\u2010up over a mean time of 5.4\u00a0years (range: 0.3\u201314.8\u00a0years). The results of these children were compared with an age\u2010 and sex\u2010matched reference group of healthy children (<jats:italic>n<\/jats:italic>\u00a0=\u00a0119).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Altogether 36\/44 of the children (82%) had ophthalmological abnormalities. The most common findings were refractive errors (<jats:italic>n<\/jats:italic>\u00a0=\u00a016\/25), low <jats:styled-content style=\"fixed-case\">VA<\/jats:styled-content> (<jats:italic>n<\/jats:italic>\u00a0=\u00a09\/36), strabismus (<jats:italic>n<\/jats:italic>\u00a0=\u00a08\/42), reduced eye motility (<jats:italic>n<\/jats:italic>\u00a0=\u00a08\/40), optic atrophy (<jats:italic>n<\/jats:italic>\u00a0=\u00a07\/41), retinal pigmentation (<jats:italic>n<\/jats:italic>\u00a0=\u00a06\/40) and nystagmus (<jats:italic>n<\/jats:italic>\u00a0=\u00a06\/42). Several ophthalmological manifestations appeared over time. In 5\/22 children, ff\u2010<jats:styled-content style=\"fixed-case\">ERG<\/jats:styled-content> showed retinal dystrophy. No significant correlation between phenotype and genotype was found. The children with <jats:styled-content style=\"fixed-case\">LS<\/jats:styled-content> had significantly lower <jats:styled-content style=\"fixed-case\">VA<\/jats:styled-content>\u00a0(p\u00a0&lt;\u00a00.0001, Mantel\u2010Haenszel chi\u2010square exact test), more astigmatism (p\u00a0=\u00a00.012, Fisher\u2032s exact test) and higher incidence of strabismus (p\u00a0=\u00a00.0002) compared to controls at follow\u2010up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In this unique cohort of children with <jats:styled-content style=\"fixed-case\">LS<\/jats:styled-content>, the vast majority showed ophthalmological findings at diagnosis, which increased over time. Therefore, we recommend that all children diagnosed with <jats:styled-content style=\"fixed-case\">LS<\/jats:styled-content> should be followed up with regular ophthalmological examinations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.12983","type":"journal-article","created":{"date-parts":[[2016,2,20]],"date-time":"2016-02-20T15:35:19Z","timestamp":1455982519000},"page":"609-617","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Ophthalmological characteristics in children with Leigh syndrome \u2013 A long\u2010term follow\u2010up"],"prefix":"10.1111","volume":"94","author":[{"given":"Rebecka","family":"\u00c5kebrand","sequence":"first","affiliation":[{"name":"Institute of Neuroscience and Physiology\/Ophthalmology The Sahlgrenska Academy at the University of Gothenburg Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susann","family":"Andersson","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience and Physiology\/Ophthalmology The Sahlgrenska Academy at the University of Gothenburg Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antovan K.","family":"Seyedi Honarvar","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience and Physiology\/Ophthalmology The Sahlgrenska Academy at the University of Gothenburg Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalliopi","family":"Sofou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Queen Silvia Children's Hospital The Sahlgrenska Academy at the University of Gothenburg Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niklas","family":"Darin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Queen Silvia Children's Hospital The Sahlgrenska Academy at the University of Gothenburg Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar","family":"Tulinius","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Queen Silvia Children's Hospital The Sahlgrenska Academy at the University of Gothenburg Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marita Andersson","family":"Gr\u00f6nlund","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience and Physiology\/Ophthalmology The Sahlgrenska Academy at the University of Gothenburg Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,19]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006324-199206000-00003"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-304426"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200302000-00005"},{"key":"e_1_2_5_5_1","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Chinnery PF","year":"2014"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.75"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0420.2005.00615.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2008.154187"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2014-305704"},{"key":"e_1_2_5_10_1","doi-asserted-by":"crossref","first-page":"114","DOI":"10.3928\/0191-3913-19800301-13","article-title":"A modified letter matching chart for testing young children\u2032s visual acuity","volume":"17","author":"Hedin ANK","year":"1980","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000309402"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(72)90896-3"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813512524"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.14.3.216"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-008-9155-4"},{"key":"e_1_2_5_16_1","unstructured":"Ophthalmology AAO(2015).Guidelines for Refractive Correction in Infants and Young Children. 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