A new locus for autosomal dominant Stargardt-like disease maps to chromosome 4

Stargardt disease (STGD) is the most common hereditary macular dystrophy an d is characterized by decreased central vision, atrophy of the macula and u nderlying retinal-pigment epithelium, and frequent presence of prominent fl ecks in the posterior pole of the retina. STGD is most commonly inherited a s an autosomal recessive trait, but many families have been described in wh ich features of the disease are transmitted in an autosomal dominant manner . A recessive locus has been identified on chromosome 1p (STGD1), and domin ant loci have been mapped to both chromosome 13q (STGD2) and chromosome 6q (STGD3). In this study we describe a kindred with an autosomal dominant Sta rgardt-like phenotype. A genomewide search demonstrated linkage to a locus on chromosome 4p, with a maximum LOD scare of 5.12 at a recombination fract ion of .00, for marker D4S403. Analysis of extended haplotypes localized th e disease gene to an similar to 12-cM interval between loci D4S1582 and D4S 2397. Therefore, this kindred establishes a new dominant Stargardt-like loc us, STGD4.