Autosomal Dominant Stargardt-like Macular Dystrophy

Larry A. Donoso
2001 Archives of Ophthalmology  
Objectives: To characterize a disease-associated haplotype in 7 families with autosomal dominant Stargardtlike macular dystrophy and to determine whether these families share a common ancestor. Methods: Twenty-five polymorphic DNA markers spanning known dominant Stargardt-like gene loci were used to determine the haplotype associated with disease. In addition, an extensive genealogical investigation searching for a common ancestor shared by all of the 7 families was performed. Results: We
more » ... ally evaluated 171 patients and genotyped 145 samples. The same DNA haplotype on chromosome 6q16 was shared by all evaluated affected members within the 7 families. In addition, we were able to genealogically join all of the families into one larger family consisting of 31 branches and 2314 individuals. Twenty-seven branches have known living descen- OPHTHALMIC MOLECULAR GENETICS
doi:10.1001/archopht.119.4.564 pmid:11296022 fatcat:ac4hwe5rybemvodmkq2ysj6du4