{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T20:34:52Z","timestamp":1783110892234,"version":"3.54.6"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2007,3,22]],"date-time":"2007-03-22T00:00:00Z","timestamp":1174521600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Ophthalmologica Scandinavica"],"published-print":{"date-parts":[[2007,8]]},"abstract":"<jats:title>Abstract.<\/jats:title><jats:p><jats:bold>Purpose:\u2002<\/jats:bold> To describe the outcome of ophthalmologic examination of 10 Norwegian children with ataxia\u2010telangiectasia (AT) followed through 5\u2003years.<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> Ten Norwegian patients with AT aged 2\u201322\u2003years (three females, seven males) were examined. The diagnosis was confirmed clinically as well as with molecular genetic studies. Conventional ophthalmologic examination was performed and supplemented by photographs of the conjunctiva, video recordings and registration of eye motility in five consecutive years. Additionally conjunctival biopsies were performed at the end of the follow\u2010up period.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> General ataxia was usually detected when the child started to walk. All children over the age of 4\u2003years had abnormal saccade movements, a form of ocular motor apraxia. Conjunctival telangiectasias were mostly visible at 4\u20135 years, primarily within the palpebral fissure. Immunohistochemical examination of conjunctival biopsies showed an increased number of cross\u2010sections of blood vessels and neurons surrounded by glial tissue. There was a tendency to slightly earlier onset of conjunctival telangiectasias in the patients homozygous for a founder mutation compared with the other patients.<\/jats:p><jats:p><jats:bold>Conclusion:\u2002<\/jats:bold> The diagnosis of AT can be supported at preschool age by the onset of ocular motor apraxia and conjunctival telangiectasias. The findings become more prominent with age. The conjunctival telangiectasias seem to appear slightly earlier in the patients who are homozygous for a Norwegian founder mutation than in the rest of the patients.<\/jats:p>","DOI":"10.1111\/j.1600-0420.2007.00890.x","type":"journal-article","created":{"date-parts":[[2007,3,22]],"date-time":"2007-03-22T10:39:45Z","timestamp":1174559985000},"page":"557-562","source":"Crossref","is-referenced-by-count":4,"title":["Ocular findings in Norwegian patients with ataxia\u2010telangiectasia: a 5\u2003year prospective cohort study"],"prefix":"10.1111","volume":"85","author":[{"given":"Ruth","family":"Riise","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Ygge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carl","family":"Lindman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asbj\u00f8rg","family":"Stray\u2010Pedersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toke","family":"Bek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaug Kristin","family":"R\u00f8dningen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arvid","family":"Heiberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,7,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.11.1099"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0420.1997.tb00395.x"},{"key":"e_1_2_6_4_1","first-page":"253","article-title":"Congenital ocular motor apraxia","volume":"1","author":"Cogan DG","year":"1966","journal-title":"Can J Ophthalmol"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(02)01796-8"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/336577a0"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200009)16:3<232::AID-HUMU6>3.0.CO;2-L"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200181"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000106149"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162205001726"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/93.2.121"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7792600"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc1011"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1966.tb15232.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870040405"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2249.2004.02492.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198705213162101"}],"container-title":["Acta Ophthalmologica Scandinavica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1600-0420.2007.00890.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1600-0420.2007.00890.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T00:15:31Z","timestamp":1697069731000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1600-0420.2007.00890.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7,25]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,8]]}},"alternative-id":["10.1111\/j.1600-0420.2007.00890.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1600-0420.2007.00890.x","archive":["Portico"],"relation":{},"ISSN":["1395-3907","1600-0420"],"issn-type":[{"value":"1395-3907","type":"print"},{"value":"1600-0420","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,7,25]]}}}