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Kang Zhang, PhD; Paul P. Bither, OD; Robert Park; Larry A. Donoso, MD, PhD; J. G. Seidman, PhD; Christine E. Seidman, MD

Arch Ophthalmol. 1994;112(6):759-764.

Abstract
Objective
To identify the chromosomal location of a mutated gene that causes an autosomal dominant Stargardt's macular dystrophy.

Methods
Ocular examinations were performed on 67 members of a large kindred to identify those with macular dystrophy. DNA analyses defined the genotype of all family members at 49 polymorphic loci. Linkage between the gene defect responsible for this macular dystrophy and each polymorphic locus was assessed by lodscore calculations.

Results
Diminished visual acuity and funduscopic abnormalities were found in 29 family members, which was diagnostic of macular dystrophy. Genetic analyses demonstrated that polymorphic loci from chromosome 13 band q34 were linked to the gene defect in this family. Haplotype analyses localized the disease locus to an 8-centimorgan interval between loci D13S159 and D13S158/D13S174.

Conclusion
A disease locus responsible for an autosomal dominant Stargardt's macular dystrophy is located on chromosome 13 band q34. Identification of the mutated gene at this locus will lead to a better understanding of macular degeneration.

Author Affiliations
From the Department of Genetics and the Howard Hughes Medical Institute (Drs Zhang and J. Seidman and Mr Park), and the Cardiology Division, Brigham and Women's Hospital (Dr C. Seidman), Harvard Medical School, Boston, Mass; the Henry and Corinne Bower Laboratory for Macular Degeneration, Wills Eye Hospital, Philadelphia, Pa (Drs Zhang and Donoso); and Low Vision Services, Indianapolis, Ind (Dr Bither).

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