Autosomal recessive achromatopsia is a rare disorder characterized by total
absent color vision, nystagmus, photophobia, and visual impairment, freque
ntly leading to 'legal blindness'. The primary defect is at the photorecept
or level, with retinal cones being absent or defective. The first locus for
this disorder was mapped to chromosome 2q11. Here, we confirm the genetic
mapping of a locus discovered in our studies of a kindred with Irish ancest
ry, but no known consanguinity, in which 5 of 12 children are affected. We
have mapped the locus in this disorder in this family to chromosome 8q. Ava
ilable data now narrow the region containing the putative gene to 1.2 cM.