Human leukocyte antigen A29 subtypes associated with birdshot retinochoroidopathy

Am J Ophthalmol. 2004 Oct;138(4):631-4. doi: 10.1016/j.ajo.2004.06.016.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chorioretinitis / genetics*
  • DNA / analysis
  • DNA Fingerprinting
  • Gene Frequency
  • HLA-A Antigens / genetics*
  • Humans
  • Polymerase Chain Reaction


  • HLA-A Antigens
  • HLA-A29 antigen
  • DNA