Molecular genetic analysis in autosomal dominant keratoconus

Cornea. 1992 Jul;11(4):302-8. doi: 10.1097/00003226-199207000-00005.


Members in three generations of a family whose propositus had keratoconus were examined by biomicroscopy, with a corneoscope and a computer-assisted videophoto-keratoscope. Keratoconus was detected in eight of 15 family members with vertical transmission consistent with autosomal dominant inheritance. Affected individuals displayed variable topographic features. Abortive "nipple-type" cones were identified in some individuals in successive generations using the computer-assisted videophotokeratoscope and more advanced nipple-type cones detected on biomicroscopy of other family members. We selected a COL6A1 cDNA (the gene encoding the alpha 1 chain of type VI collagen) as a "candidate gene" to determine cosegregation with the disease locus. Linkage analysis excluded a gene locus for keratoconus on the most telomeric region of chromosome 21 in this family.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Chromosomes, Human, Pair 21
  • Collagen / genetics
  • DNA / analysis
  • DNA Probes
  • Genetic Linkage*
  • Haplotypes
  • Humans
  • Keratoconus / genetics*
  • Keratoconus / pathology
  • Middle Aged
  • Molecular Biology
  • Pedigree
  • Polymorphism, Restriction Fragment Length


  • DNA Probes
  • Collagen
  • DNA