Electrophysiological and eye-movement abnormalities in children with the Bardet-Biedl syndrome

J Pediatr Ophthalmol Strabismus. 1995 Nov-Dec;32(6):364-7. doi: 10.3928/0191-3913-19951101-08.

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.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Aging / physiology
  • Child
  • Child, Preschool
  • Electrophysiology
  • Eye Movements / physiology*
  • Female
  • Humans
  • Hypogonadism / genetics
  • Hypogonadism / physiopathology
  • Infant
  • Intellectual Disability / genetics
  • Intellectual Disability / physiopathology*
  • Male
  • Nystagmus, Optokinetic / physiology
  • Obesity / genetics
  • Obesity / physiopathology*
  • Ocular Motility Disorders / diagnosis
  • Ocular Motility Disorders / genetics
  • Ocular Motility Disorders / physiopathology*
  • Photoreceptor Cells / physiology
  • Reflex, Vestibulo-Ocular / physiology
  • Retinitis Pigmentosa / diagnosis
  • Retinitis Pigmentosa / genetics
  • Retinitis Pigmentosa / physiopathology*
  • Syndrome