A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22

Cataracts are the leading cause of blindness in most countries. Although mo st hereditary cases appear to follow an autosomal dominant pattern of inher itance, autosomal recessive inheritance has been clearly documented and is probably underrecognized. We studied a large family-from a relatively isola ted geographic region-whose members were affected by autosomal recessive ad ult-onset pulverulent cataracts. We mapped the disease locus to a 14-cM int erval at a novel disease locus, 9q13-q22 (between markers D9S1123 and D9S25 7), with a LOD score of 4.7. The study of this progressive and age-related cataract phenotype may provide insight into the cause of the more common sp oradic form of age-related cataracts.