title: Different expressions of one gene for congenital achromatopsia with amblyopia in Northern Sweden.
abstract: Congenital achromatopsia with amblyopia is a recessive disorder. The authors report the origin of 9 cases in 4 sibships from one small parish in northern Sweden suggesting a gene source for achromatopsia in this population. The study confirms that complete and incomplete achromatopsia might be different expressions of the same gene. A tendency towards a heterozygotic manifestation of the gene was found.
mesh_terms: D000550:Amblyopia / Q000150:complications / Q000235:genetics*; D003117:Color Vision Defects / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D013548:Sweden