Autosomal dominant Stargardt-like macular dystrophy: Founder effect and reassessment of genetic heterogeneity

Larry A. Donoso, Arcilee T. Frost, Edwin M. Stone, Richard G. Weleber, Ian M. MacDonald, Gregory S. Hageman, Gerhard W. Cibis, Robert Ritter, Albert Edwards

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


Objectives: To characterize a disease-associated haplotype in 7 families with autosomal dominant Stargardt-like 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 clinically 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 descendants, with 7 branches having affected family members. In addition, we refined the critical region for the gene to approximately 1000 kilobases (kb) and eliminated part or all of 9 candidate disease-causing genes. Conclusions: Our study indicates that most reported cases of autosomal dominant Stargardt-like macular dystrophy in North America are part of a single larger family associated with a gene locus on chromosome 6q16. Furthermore, the DNA haplotype associated with disease is useful in excluding individuals with phenotypically similar retinal conditions. Clinical Relevance: The disease-associated haplotype allows for more accurate genetic counseling to be given to individuals with a Stargardt-like phenotype inherited herited in an autosomal dominant pattern.

Original languageEnglish (US)
Pages (from-to)564-570
Number of pages7
JournalArchives of ophthalmology
Issue number4
StatePublished - 2001
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology


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