[Ophthalmologic manifestations of Bardet-Biedl syndrome]. / Tapasztalataink Bardet-Biedl-szindrómás gyermekek általános szemészeti és elektrofiziológiai vizsgálatával.
Orv Hetil
; 154(52): 2071-7, 2013 Dec 29.
Article
em Hu
| MEDLINE
| ID: mdl-24374583
INTRODUCTION: Bardet-Biedl syndrome is characterised by retinal dystrophy, polydactily, obesity and slow mental development. AIM: The aim of the authors was to present ophthalmologic signs and symptoms of the syndrome. METHOD: Between 1980 and 2010, 4 children with Bardet-Biedl syndrome were evaluated at the Department of Ophthalmology, University of Szeged, Szeged, Hungary. Their age at the first visit was between 1 and 10 years. Basic ophthalmological and electrophysiological evaluation, as well as orthoptic examinations were performed. RESULTS: In two cases the electroretinographic curves were subnormal, and in two cases the electroretinographic curves showed no elevation. In the 4 children abnormal electroretinographic curves appeared at the ages of 1, 5, 10, and 18 years. Pigmentary changes on the periphery of the retina were detected in two cases. CONCLUSIONS: The different signs and symptoms of Bardet-Biedl syndrome may manifest at different ages. Electrophysiological changes failed to correlate with retinal alterations is these patients.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Retina
/
Degeneração Retiniana
/
Acuidade Visual
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Síndrome de Bardet-Biedl
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Eletrorretinografia
Limite:
Child
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Child, preschool
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Humans
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Infant
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Male
País/Região como assunto:
Europa
Idioma:
Hu
Ano de publicação:
2013
Tipo de documento:
Article