EPOS

European Paediatric Ophthalmological Society

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27 Bardet-Biedl syndrome: variability of clinical expression

Besch, D., Zrenner, E.
University Eye Hospital Tübingen

Purpose: Bardet-Biedl-Syndrome is a clinical and genetic heterogeneous disorder. Cardinal manifestations are mental retardation, tapetoretinal degeneration, polydactyly, obesity, and hypogenitalism. Renal abnormalities also appear to have a high frequency in the Bardet-Biedl syndrome. Dental abnormalities, liver disease, hypertension, cardiac abnormalities and diabetes mellitus or Morbus Hirschsprung have also been described in those patients.

Methods: We present a survey of visual function changes and other clinical manifestations of the disorder in 20 unrelated patients with rare autosomal-rezessive Bardet-Biedl syndrome. Depending on age and mental retardation ophthalmological examinations included psychophysical tests such as color vision (Farnsworth D15), dark adaptation threshold and Goldmann visual fields. Additionally, a Ganzfeld ERG following the International Society for Clinical Electrophysiology of Vision (ISCEV) standard protocol and a VERIS multifocal ERG was obtained in most of the patients.

Results: All young patients (age: 5 - 20 years ) revealed fundus changes showing either a typical retinitis pigmentosa or cone degeneration previous to any abnormal pigmentations in the periphery. Due to a fast progression of disease full field electroretinograms in the children with Bardet-Biedl syndrome revealed low or even non-detectable rod and cone responses. Mental resources and other clinical manifestations were very variabel in our patients, however, obesity was observed in all patients and polydactyly was reported in 80%. Hypogenitalism and renal abnormalities were found in about 30%, but several children had not yet been examined for renal changes at time of ophthalmological investigation. Hypertension, cardiac abnormalities and diabetes mellitus or Morbus Hirschsprung could not be detected in our patients.

Conclusion: As Bardet-Biedl syndrome is a rare syndrome the management of this disorder requires a strong interdisciplinary cooperation including the ophthalmologist's responsibility to initiate careful examinations for other signs of Bardet-Biedl in childhood.