PURPOSE: To determine whether birdshot retinochoroidopathy is associated with subtypes of the human leukocyte antigen (HLA)-A29 other than HLA-A*2902. DESIGN: Experimental study. METHODS: High-resolution 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. RESULTS: 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. CONCLUSIONS: 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.
PURPOSE: To determine whether birdshot retinochoroidopathy is associated with subtypes of the human leukocyte antigen (HLA)-A29 other than HLA-A*2902. DESIGN: Experimental study. METHODS: High-resolution 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. RESULTS: 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. CONCLUSIONS: 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.
Authors: Jonas J W Kuiper; Jessica Van Setten; Stephan Ripke; Ruben Van 'T Slot; Flip Mulder; Tom Missotten; G Seerp Baarsma; Laurent C Francioli; Sara L Pulit; Carolien G F De Kovel; Ninette Ten Dam-Van Loon; Anneke I Den Hollander; Paulien Huis in het Veld; Carel B Hoyng; Miguel Cordero-Coma; Javier Martín; Victor Llorenç; Bharti Arya; Dhanes Thomas; Steven C Bakker; Roel A Ophoff; Aniki Rothova; Paul I W De Bakker; Tuna Mutis; Bobby P C Koeleman Journal: Hum Mol Genet Date: 2014-06-22 Impact factor: 6.150
Authors: Talin Barisani-Asenbauer; Saskia M Maca; Lamiss Mejdoubi; Wolfgang Emminger; Klaus Machold; Herbert Auer Journal: Orphanet J Rare Dis Date: 2012-08-29 Impact factor: 4.123
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