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1 From the Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah; the 2 Department of Human Genetics, University of Utah, Salt Lake City, Utah; the 3 Laboratory of Genomic Diversity, National Cancer Institute, Frederick Cancer Research and Development Center, Frederick, Maryland; the 4 Departments of Ophthalmology, 5 Pediatrics, 6 Medicine, 7 Molecular and Human Genetics, and the 8 Huffington Center on Aging, Baylor College of Medicine, Houston, Texas; the 9 Departments of Ophthalmology and 10 Pathology, Columbia University, New York, New York; and the 11 Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts.
PURPOSE. Single-copy variants of the autosomal recessive Stargardt disease (STGD1) gene ABCR (ABCA4) have been shown to confer enhanced susceptibility to age-related macular degeneration (AMD). To investigate the role of ABCR alleles in AMD further, genotype–phenotype analysis was performed on siblings of patients with AMD who had known ABCR variants. This genetically related population provides a cohort of subjects with similar age and ethnic background for genotype–phenotype comparison to the original probands.
METHODS. All available siblings of 26 probands carrying probable disease-associated ABCR variants were examined clinically. Blood samples were collected from these siblings for genotype analysis to search for the ABCR variant alleles corresponding to the isofamilial proband.
RESULTS. Nineteen of 33 siblings from 15 families carried the respective proband’s variant ABCR allele. Some families exhibited concordance of ABCR alleles with macular degeneration phenotype, but others did not. Exudative AMD was uncommon among both probands and siblings.
CONCLUSIONS. Although population studies have indicated that some ABCR variant alleles may enhance susceptibility to AMD, investigation of the extent of ABCR involvement by kindred analysis is complicated by a plethora of environmental and other hereditary factors not investigated in the current study that may also play important roles.
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