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  • Title: Electrophysiological and eye-movement abnormalities in children with the Bardet-Biedl syndrome.
    Author: Lavy T, Harris CM, Shawkat F, Thompson D, Taylor D, Kriss A.
    Journal: J Pediatr Ophthalmol Strabismus; 1995; 32(6):364-7. PubMed ID: 8587019.
    Abstract:
    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.
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