Table 6

Initial investigation and follow up recommendations for a person with Bardet-Biedl syndrome

Baseline
Electroretinogram (ERG)/visually evoked responses (VER)
Renal ultrasound
Intravenous pyelogram (IVP) or DMSA/DPTA scan
ECG & echocardiogram
Prader-Willi syndrome exclusion by molecular testing
Consider
CT/MRI brain scan/renal
Electroencephalogram (EEG)
Statementing of educational needs
Registration of blindness
Speech assessment & therapy
Six monthly
Urine analysis (dipstick)
Annually
Blood pressure
Urea & creatinine levels