{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T06:10:13Z","timestamp":1716358213153},"reference-count":22,"publisher":"Akademiai Kiado Zrt.","issue":"52","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:p>Introduction: Bardet\u2013Biedl 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\u2013Biedl 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\u2013Biedl syndrome may manifest at different ages. Electrophysiological changes failed to correlate with retinal alterations is these patients. Orv. 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