Electrophysiological and eye-movement abnormalities in children with the Bardet-Biedl syndrome.
We investigated 17 patients with clinical features of Bardet-Biedl syndrome by electroretinogram (ERG), visual-evoked potentials (VEP), and electro-oculographic (EOG) eye movement assessment. The ERGs were grossly abnormal in 16 cases. Pattern VEPs were generally well preserved, but showed a tendency to increase in latency and decrease in amplitude with age. These results confirm other reports that the retinopathy appears to be a progressive rod-cone dystrophy initially affecting mainly extramacular areas but involving the macula at later stages. Seven of 11 patients showed abnormalities of either optokinetic nystagmus, vestibulo-ocular reflex, or both. These eye-movement abnormalities have not been reported previously, and are further evidence of central nervous system involvement in this syndrome.
Lavy
T
T
Great Ormond Street Hospital for Sick Children, London, England, UK.
Harris
C M
CM
Shawkat
F
F
Thompson
D
D
Taylor
D
D
Kriss
A
A
D000293:Adolescent; D000375:Aging / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D004594:Electrophysiology; D005133:Eye Movements / Q000502:physiology*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D017120:Nystagmus, Optokinetic / Q000502:physiology; D009765:Obesity / Q000235:genetics / Q000503:physiopathology*; D015835:Ocular Motility Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D010786:Photoreceptor Cells / Q000502:physiology; D012027:Reflex, Vestibulo-Ocular / Q000502:physiology; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D013577:Syndrome