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Text
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<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>
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Title
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Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study
Publisher
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Acta Ophthalmologica
Date
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2007
Subject
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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
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Riise R; Ygge J; Lindman C; Stray-Pedersen A; Bek T; Rodningen OK; Heiberg A
Description
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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
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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