Ophthalmologic manifestations of Bardet–Biedl syndrome

Abstract

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. Orv. Hetil., 2013, 154(52), 2071–2077.