X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq.
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.
Schwartz
M
M
Department of Pediatrics, University Hospital, Rigshospitalet, Copenhagen, Denmark.
Haim
M
M
Skarsholm
D
D
D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D008297:Male; D009216:Myopia / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome
D005819:Genetic Markers