Inheritance of astigmatism: evidence for a major autosomal dominant locus

Am J Hum Genet. 1998 Sep;63(3):825-30. doi: 10.1086/302014.


Although astigmatism is a frequent refractive error, its mode of inheritance remains uncertain. Complex segregation analysis was performed, by the POINTER and COMDS programs, with data from a geographically well-defined sample of 125 nuclear families of individuals affected by astigmatism. POINTER could not distinguish between alternative genetic models, and only the hypothesis of no familial transmission could be rejected. After inclusion of the severity parameter, COMDS results defined a genetic model for corneal astigmatism and provided evidence for single-major-locus inheritance. These results suggest that genetic linkage studies could be implemented and that they should be limited to multiplex families with severely affected individuals.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Astigmatism / diagnosis
  • Astigmatism / genetics*
  • Astigmatism / physiopathology
  • Child
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Humans
  • Likelihood Functions
  • Male
  • Models, Genetic
  • Nuclear Family
  • Software
  • Visual Acuity