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Related Experiment Videos

X-linked high myopia associated with cone dysfunction.

Terri L Young1, Samir S Deeb, Shawn M Ronan

  • 1Department of Ophthalmology, University of Minnesota Medical School, Minneapolis, USA. youngt@e-mail.chop.edu

Archives of Ophthalmology (Chicago, Ill. : 1960)
|June 16, 2004
PubMed
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Bornholm eye disease (BED) involves X-linked high myopia and color vision defects. Mapping studies suggest independent mutations in the same gene in two Danish families, unrelated to the myopia.

Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Bornholm eye disease (BED) is an X-linked condition characterized by high myopia, optic nerve hypoplasia, and color vision abnormalities.
  • Previous studies mapped BED to chromosome Xq28, identifying it as the first high-grade myopia locus (MYP1).
  • A second family with a similar X-linked phenotype, also of Danish descent, presented with protanopia instead of deuteranopia.

Purpose of the Study:

  • To investigate the genetic basis of BED in a second family from Minnesota.
  • To refine the genetic mapping of the BED locus.
  • To compare the genetic findings between the original BED family and the Minnesota family.

Main Methods:

  • X chromosome genotyping, fine-point mapping, and haplotype analysis were performed on DNA from 22 individuals in the Minnesota family and 6 from the original BED family.

Related Experiment Videos

  • Haplotype comparisons and mutation screening of the red-green cone pigment gene array were conducted.
  • Polymorphic microsatellite markers and Xq27-28 markers were utilized for genotyping and interval definition.

    • Main Results:

    • Significant linkage scores were obtained with markers DXS8106 and DXYS154 in the Minnesota family, defining a critical interval of 34.4 cM at Xq27.3-Xq28.
    • Affected males in the Minnesota family carried a red-green pigment hybrid gene, consistent with protanopia.
    • Haplotype analysis revealed distinct genetic intervals (34.4 cM and 6.8 cM) for the two families, suggesting independent mutations despite shared Danish ancestry.

    Conclusions:

    • The genetic mapping studies indicate independent mutations within the same gene in the two studied families.
    • The observed red-green and green-red hybrid genes, associated with protanopia and deuteranopia respectively, are common X-linked color vision defects.
    • These color vision defects appear unrelated to the high myopia and other ocular abnormalities characteristic of Bornholm eye disease.