[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.