1 40 1 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1111/j.1600-0420.2007.00890.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1600-0420.2007.00890.x</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study Publisher An entity responsible for making the resource available Acta Ophthalmologica Date A point or period of time associated with an event in the lifecycle of the resource 2007 Subject The topic of the resource Child; Female; Humans; Male; Adult; Prospective Studies; Phenotype; adolescent; Preschool; Q3 Literature Search; Capillaries/pathology; Norway; Genotype; Photography; Accommodation; Apraxias/diagnosis; Ataxia Telangiectasia/diagnosis; Conjunctiva/blood supply; Conjunctival Diseases/diagnosis; Ocular; Ocular Motility Disorders/diagnosis; Saccades Creator An entity primarily responsible for making the resource Riise R; Ygge J; Lindman C; Stray-Pedersen A; Bek T; Rodningen OK; Heiberg A Description An account of the resource PURPOSE: To describe the outcome of ophthalmologic examination of 10 Norwegian children with ataxia-telangiectasia (AT) followed through 5 years. METHODS: Ten Norwegian patients with AT aged 2-22 years (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-up period. RESULTS: General ataxia was usually detected when the child started to walk. All children over the age of 4 years had abnormal saccade movements, a form of ocular motor apraxia. Conjunctival telangiectasias were mostly visible at 4-5 years, primarily within the palpebral fissure. Immunohistochemical examination of conjunctival biopsies showed an increased number of cross-sections 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. CONCLUSION: 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. 2007 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1111/j.1600-0420.2007.00890.x" target="_blank" rel="noreferrer">10.1111/j.1600-0420.2007.00890.x</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 2007 Accommodation Acta Ophthalmologica Adolescent Adult Apraxias/diagnosis Ataxia Telangiectasia/diagnosis Backlog Bek T Capillaries/pathology Child Conjunctiva/blood supply Conjunctival Diseases/diagnosis Female Genotype Heiberg A Humans Journal Article Lindman C Male Norway Ocular Ocular Motility Disorders/diagnosis Phenotype Photography Preschool Prospective Studies Q3 Scoping Review Results Riise R Rodningen OK Saccades Stray-Pedersen A Ygge J