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To determine whether birdshot retinochoroidopathy is associated with subtypes of the human leukocyte antigen (HLA)- A29 other than HLA- A* 2902. Experimental study. High- resolu- tion DNA typing of HLA- A29 subtypes was performed on blood from 20 subjects with birdshot retinochoroidopathy using polymerase chain reaction- based typing methods. Results were compared with published controls. Four of 20 subjects (20% ) had the HLA- A* 2901 allele; two were homozygous for HLA- A* 29, and both had the HLA- A* 2901 and HLA- A* 2902 alleles. Among 18 subjects with only one HLA- A* 29 allele, the HLA- A* 2902 allele was found in 16 (89% ) and the HLA- A* 2901 allele was found in two (11% ). No subject was found to have HLA- A* 2903, HLA- A* 2904, HLA- A* 2905, or HLA- A* 2906. Both HLA- A* 2901 and HLA- A* 2902 are associated with birdshot retinochoroidopathy. Our data do not support the previous suggestion that the HLA- A29* 1 serotype may be protective against development of birdshot retinochoroidopathy. Additional studies will be required to determine whether the other, less common subtypes are associated with the disease. HLA- A29 subtype testing is not required for the clinical evaluation of HLA- A29- positive patients with birdshot retinochoroidopathy.
To determine whether birdshot retinochoroidopathy is associated with subtypes of the human leukocyte antigen (HLA) -A29 other than HLA-A * 2902. Experimental study. High-resolu- tion DNA typing of HLA- A29 subtypes was performed on blood from 20 subjects with birdshot retinochoroidopathy using polymerase chain reaction-based typing methods. Four of 20 subjects (20%) had the HLA- A * 2901 allele; two were homozygous for HLA- A * 29, and both had the HLA A * 2902 alleles. Among 18 subjects with only one HLA- A * 29 allele, the HLA- A * 2902 allele found in 16 (89%) and the HLA- A * 2901 allele was found A * 2904, HLA-A * 2905, or HLA-A * 2906. Both HLA-A * 2901 and HLA-A * 2902 are associated with birdshot retinochoroidopathy. Our data do not support the previous suggestion that the HLA- A29 * 1 serotype may be protective against development of birdshot retinoch HLA-A29 subtype testing is not required for the clinical evaluation of HLA-A29-positive patients with birdshot retinochoroidopathy.