A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.

ABSTRACT: Congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder that can be associated with impaired night vision. The last decade has witnessed huge progress in ophthalmic genetics, including the identification of three genes implicated in the pathogenicity of autosomal-recessive CSNB. However, not all patients studied could be associated with mutations in these genes and thus other genes certainly underlie this disorder. Here, we report a large multigeneration family with five affected individuals manifesting symptoms of night blindness. A genome-wide scan localized the disease interval to chromosome 15q, and recombination events in affected individuals refined the critical interval to a 10.41 cM (6.53 Mb) region that harbors SLC24A1, a member of the solute carrier prot

SUBMITTER: Riazuddin SA 

PROVIDER: S-EPMC2948789 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature