X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq

Abstract

Linkage analysis in a family with X-linked myopia gave a positive LOD score (z = 4.8 at theta = 0) for linkage to F8C. These results suggest a provisional assignment for the locus of this syndrome to the distal part of the X chromosome at Xq28. Based on the clinical and genetic evidence, a redefinition of this clinical syndrome, named Bornholm Eye Disease (BED), was made to include amblyopia, myopia, and deuteranopia. Facultative signs were optic nerve hypoplasia, reduced electroretinographic flicker function, and non-specific retinal pigment abnormalities.