Pendular nystagmus in patients with peroxisomal assembly disorder

Academic Article


  • Background: Pendular nystagmus commonly occurs in congenital and acquired disorders of myelin. Objective: To characterize the nystagmus in 3 siblings with an infantile form of an autosomal recessive peroxisomal assembly disorder causing leukodystrophy. Design: We examined visual function and measured eye movements using infrared oculography. We noted changes in eye speed and frequency before and after the administration of gabapentin to 1 patient. Results: All 3 siblings showed opticatrophy and pendular nystagmus that was predominantly horizontal, at a frequency of 3 to 6 Hz, with phase shifts of 45┬░to 80┬░between the oscillations of each eye. Gabapentin administered to I child caused a modest improvement of vision and the reduction of the velocity and frequency of oscillations in the eye with worse nystagmus. Conclusion: The pendular nystagmus in these patients was due to their leukodystrophy and may have a similar pathogenesis to the oscillations seen in other disorders affecting central myelin.
  • Authors

    Published In

    Digital Object Identifier (doi)

    Author List

  • Kori AA; Robin NH; Jacobs JB; Erchul DM; Zaidat OO; Remler BF; Averbuch-Heller L; DelL'Osso LF; Leigh RJ; Zinn AB
  • Start Page

  • 554
  • End Page

  • 558
  • Volume

  • 55
  • Issue

  • 4