{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T18:14:20Z","timestamp":1785176060948,"version":"3.55.0"},"reference-count":31,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,7,29]],"date-time":"2013-07-29T00:00:00Z","timestamp":1375056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To investigate whether patients registered at a low\u2010vision centre with \u2018nystagmus\u2019 had any underlying, but so far unknown, ophthalmic diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>All patients registered at the low\u2010vision centre of <jats:styled-content style=\"fixed-case\">U<\/jats:styled-content>ppsala county with nystagmus as their major diagnosis were identified. Their medical records were studied to exclude those with other general diagnoses that could explain the nystagmus. The remaining group of patients underwent an ophthalmic examination, refraction and optical coherence tomography (<jats:styled-content style=\"fixed-case\">OCT<\/jats:styled-content>). Electroretinogram and genetic analyses were performed when indicated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sixty\u2010two patients with nystagmus as their main diagnosis were registered at the low\u2010vision centre, <jats:styled-content style=\"fixed-case\">U<\/jats:styled-content>ppsala, and 43 of them had a major diagnosis other than nystagmus. Nystagmus was the major diagnosis in 19 patients, 15 of whom, aged 6\u201376\u00a0years, participated in the study. Two of the patients had foveal hypoplasia and albinism, four a seemingly isolated foveal hypoplasia, three achromatopsia, one rod\u2010cone dystrophy, one degenerative high myopia, and two could not be evaluated. Only two patients appeared to have \u2018congenital\u2019 nystagmus. Eleven of the patients underwent a comprehensive genetic investigation of the <jats:italic><jats:styled-content style=\"fixed-case\">PAX<\/jats:styled-content> 6<\/jats:italic> gene. In addition, four of the patients were analysed for mutations in <jats:italic><jats:styled-content style=\"fixed-case\">FOXC<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">PITX<\/jats:styled-content>2<\/jats:italic> and one in <jats:italic><jats:styled-content style=\"fixed-case\">FRMD<\/jats:styled-content>7<\/jats:italic>. No mutations were found in any of the patients analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The study illustrates that many patients in our study group with nystagmus had underlying ophthalmic diagnoses. Early diagnosis is important to facilitate habilitation and to provide genetic counselling and, in the future, possibly also gene therapy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.12250","type":"journal-article","created":{"date-parts":[[2013,7,29]],"date-time":"2013-07-29T11:50:24Z","timestamp":1375098624000},"page":"412-416","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["\u2018Congenital\u2019 nystagmus may hide various ophthalmic diagnoses"],"prefix":"10.1111","volume":"92","author":[{"given":"Gerd","family":"Holmstr\u00f6m","sequence":"first","affiliation":[{"name":"Department of Neuroscience\/Ophthalmology Uppsala University Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Louise","family":"Bondeson","sequence":"additional","affiliation":[{"name":"Department of Immunology, Genetics and Pathology Uppsala University Uppsala 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