Eye movement dysfunction in schizophrenia: a heritable characteristic for enhancing phenotype definition

Am J Med Genet. 2000 Spring;97(1):72-6. doi: 10.1002/(sici)1096-8628(200021)97:1<72::aid-ajmg10>3.0.co;2-l.


The occurrence of ocular motor dysfunction in schizophrenia patients and their first-degree biological relatives is remarkably consistent, suggesting that abnormal smooth pursuit and saccadic oculomotion are heritable characteristics that can be used to identify gene carriers for schizophrenia. Saccadic system dysfunction probably reflects a generalized deficit in prefrontal cortical functioning, rather than a specific deficit in saccade system functioning. Although abnormal smooth pursuit has also been associated with impaired frontal functioning, it is unclear whether these two types of dysfunction arise from the same neural pathology. Therefore, deviant smooth pursuit and saccadic oculomotion may constitute unrelated factors identifying two different types of genetic risk. Alternatively, they may derive from a single risk factor that causes (a) both types of deficits to be expressed together or (b) each type to be expressed separately as pleiotropic manifestations of the underlying genotype. Although a full complement of pursuit and saccade measures has not been examined together in family studies of schizophrenia, there is obvious value in determining how these measures relate to one another in schizophrenia families and whether they can be used in combination to enhance phenotype definition to facilitate the search for schizophrenia susceptibility genes.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Biomarkers
  • Humans
  • Ocular Motility Disorders / physiopathology*
  • Phenotype*
  • Saccades / genetics
  • Saccades / physiology
  • Schizophrenia / genetics*


  • Biomarkers