[Ophthalmologic manifestations of Bardet-Biedl syndrome].

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.