Different Expressions of One Gene for Congenital Achromatopsia with Amblyopia in Northern Sweden

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.