Congenital zonular pulverulent cataracts are inherited in an autosomal dominant pattern resulting from missense mutations in the GJA8 gene (1q21.1) that codes for connexin 50. These belong to a category of lens opacitites now designated "Cataract 1, Multiple Types" in OMIM (116200). They have been detected in multiple populations and ethnic groups around the world.
Mutations in CZP3 at 13q11-13 coding connexin 46 (601885) result in a similar phenotype (Cataracts, Congenital Zonular Pulverulent 3) suggesting that genetic heterogeneity is present.
This was the first disease locus to be linked on a human autosome, in this case to the Duffy blood group locus on chromosome 1.