WebApr 26, 2011 · 300843 - BORNHOLM EYE DISEASE; BED - Myopia, high-grade … WebBased 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. Citing Literature
Bone necrosis - Rare Disease Day 2024
WebThe presumed locus for MYP1 is located at Xq28, in the same location as the presumed gene for Bornholm Eye Disease ( 300843) in which high myopia is also found. Pedigree: X-linked recessive, carrier mother X-linked recessive, father affected Treatment No treatment beyond corrective lenses has been reported. References WebPleurodynia, also known as Bornholm disease, is basically a myositis, characterized by … chg healthcare usa address
Bornholm Disease - an overview ScienceDirect Topics
WebMyopia, X-linked (Bornholm eye disease), Myopia-1 (Bornholm eye disease), myopia 1 (X-linked, Bornholm eye disease included) GeneRIFs: Gene References Into Functions MYP1 is a common and the best locus for positional cloning of the gene responsible for high myopia. Our results suggest that MYP1 is also responsible for nonsyndromic high myopia. WebOct 13, 2024 · Also known as pleurodynia, Bornholm disease is an acute, transient viral myositis involving the intercostal and abdominal muscles The self-limiting illness usually lasts 3-5 days and causes fever and sharp, spasmodic pain in the chest wall or abdomen Associated with coxsackie B virus and most commonly seen in children and adolescents WebOct 20, 2011 · In the large Danish family reported by Haim et al. (1988), Schwartz et al. (1990) found linkage of the disorder to the factor VIII gene (F8; 300841) at Xq28, with a maximum lod of 4.8 at theta = 0.0.They designated the disorder Bornholm eye disease. Young et al. (2004) performed linkage analysis in the Minnesota family as well as in the … chg health services