Congenital ocular motor apraxia with wheel-rolling ocular torsion-a neurodiagnostic phenotype of Joubert syndrome

J AAPOS. 2014 Aug;18(4):404-7. doi: 10.1016/j.jaapos.2014.03.006.

Abstract

Joubert syndrome is a multisystem disorder that is associated with a constellation of cyclic ocular motor disturbances. We describe 2 children with congenital ocular motor apraxia who displayed wheel-rolling torsional eye movements and tonic alternating cyclodeviations of the eyes on retinal examination as a neurodiagnostic phenotype of Joubert syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple
  • Apraxias / congenital
  • Cerebellar Diseases / diagnosis*
  • Cerebellar Diseases / genetics
  • Cerebellum / abnormalities
  • Child
  • Cogan Syndrome / diagnosis*
  • Cytoskeletal Proteins
  • Eye Abnormalities / diagnosis*
  • Eye Abnormalities / genetics
  • Eye Movement Measurements
  • Female
  • Humans
  • Kidney Diseases, Cystic / diagnosis*
  • Kidney Diseases, Cystic / genetics
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins / genetics
  • Mutation
  • Ocular Motility Disorders / diagnosis*
  • Phenotype
  • Proteins / genetics
  • Retina / abnormalities*
  • Torsion Abnormality / diagnosis*
  • Video Recording

Substances

  • CC2D2A protein, human
  • CPLANE1 protein, human
  • Cytoskeletal Proteins
  • Membrane Proteins
  • Proteins

Supplementary concepts

  • Agenesis of Cerebellar Vermis
  • Apraxia, oculomotor, Cogan type