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P.J. Kappel, R.D. Levinson, M.S. Park, G.N. Holland; Human Leukocyte Antigen A29 Subtypes in Birdshot Retinochoroidopathy . Invest. Ophthalmol. Vis. Sci. 2003;44(13):2388.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Previous studies indicated that birdshot retinochoroidopathy may be associated almost exclusively with the serologically defined human leukocyte antigen (HLA)-A29.2 subtype, but patients found to have the HLA-A29.2 subtype may have one of several subtypes as defined by more recently described DNA techniques. It is possible that these subtypes could have specific features that contribute to disease pathogenesis. We examined HLA-A29 subtypes in patients with birdshot retinochoroidopathy using newly designed, novel polymerase chain reaction (PCR) primers. Methods: Primers for PCR examination of subtypes HLA-A*2901 though *2906 were designed using unique features in the DNA sequence for each subtype. Primers were tested using positive and negative controls, and the ability to discriminate the different subtypes was confirmed. The HLA-A29 subtypes of nine Caucasian patients with birdshot retinochoroidopathy were evaluated using PCR sequence specific priming techniques. Results: Eight patients had the HLA-A*2902 subtype, while one had the HLA-A*2901 subtype. No individual had subtypes HLA-A*2903, *2904, *2905, or *2906. Conclusions: We found HLA-A*2902 to be the most common subtype in patients with birdshot retinochoroidopathy, but HLA-A*2901 can, in fact, be associated with the disease. The other subtypes do not appear to be critical for disease, as they were not found in our patients, but because these subtypes are less common, a larger number of affected individuals will need to be evaluated to know whether they may be associated with disease in some patients.
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