Familial high myopia linkage to chromosome 18p

Ophthalmologica. 2003 Mar-Apr;217(2):115-8. doi: 10.1159/000068554.


A locus for autosomal dominant high myopia was reported on chromosome 18p. We sought to confirm this finding and narrow the reported interval by analyzing high myopia among families of Hong Kong Chinese, in whom myopia is common. In 15 families with a possibly autosomal dominant inheritance of high myopia (>or=-6 dpt) in at least 2 generations, 10 chromosome 18p markers were analyzed for linkage with high myopia. Two-point linkage analysis showed trends toward linkage of markers D18S476 and D18S62 with high myopia, with maximum logarithm of odds (LOD) scores of at least 1.1 and 1.7, respectively. Multipoint analysis of those 2 markers gave a maximum LOD score of at least 2.1. To attempt to account for likely genetic heterogeneity, 5 families showing evidence of linkage of the 2 markers with high myopia were selected for further multipoint linkage analysis, resulting in a maximum LOD score of 2.4 at D18S476. While multiple genetic and environmental factors likely contribute to myopia, these data are consistent with the possibility of a locus on chromosome 18p.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asians / genetics
  • Chromosomes, Human, Pair 18 / genetics*
  • Female
  • Genes, Dominant
  • Genetic Linkage*
  • Hong Kong / epidemiology
  • Humans
  • Lod Score
  • Male
  • Myopia / genetics*