Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study

Title

Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study

Creator

Riise R; Ygge J; Lindman C; Stray-Pedersen A; Bek T; Rodningen OK; Heiberg A

Publisher

Acta Ophthalmologica

Date

2007

Subject

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

Description

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

Rights

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

Journal Article

Citation List Month

Backlog

Pages

557-562

Issue

5

Volume

85

Citation

Riise R; Ygge J; Lindman C; Stray-Pedersen A; Bek T; Rodningen OK; Heiberg A, “Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study,” Pediatric Palliative Care Library, accessed September 22, 2021, https://pedpalascnetlibrary.omeka.net/items/show/14150.

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