Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.
Acta Ophthalmol Scand
; 85(5): 557-62, 2007 Aug.
Article
en En
| MEDLINE
| ID: mdl-17376192
ABSTRACT
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.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Ataxia Telangiectasia
/
Trastornos de la Motilidad Ocular
/
Conjuntiva
/
Enfermedades de la Conjuntiva
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Observational_studies
Límite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Acta Ophthalmol Scand
Asunto de la revista:
OFTALMOLOGIA
Año:
2007
Tipo del documento:
Article
País de afiliación:
Noruega