title: A locus for autosomal recessive achromatopsia on human chromosome 8q.
abstract: Autosomal recessive achromatopsia is a rare disorder characterized by total absent color vision, nystagmus, photophobia, and visual impairment, frequently leading to 'legal blindness'. The primary defect is at the photoreceptor 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 ancestry, 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. Available data now narrow the region containing the putative gene to 1.2 cM.
authors.affiliation: Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, MA 02118, USA. amilunsk@bu.edu
authors.forename: A
authors.initials: A
authors.lastname: Milunsky
authors.forename: X L
authors.initials: XL
authors.lastname: Huang
authors.forename: J
authors.initials: J
authors.lastname: Milunsky
authors.forename: A
authors.initials: A
authors.lastname: DeStefano
authors.forename: C T
authors.initials: CT
authors.lastname: Baldwin
mesh_terms: D000328:Adult; D002898:Chromosomes, Human, Pair 8; D003117:Color Vision Defects / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic