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HLA typing in birdshot chorioretinopathy.
H A Priem1, A Kijlstra, L Noens
1Department of Ophthalmology, University of Gent, Belgium.
American Journal of Ophthalmology
|February 15, 1988
Summary
The HLA-A29 antigen is strongly associated with birdshot chorioretinopathy, found in 95.9% of patients. Other HLA antigens like HLA-A2 showed decreased frequency in affected individuals.
Area of Science:
- Ophthalmology
- Immunogenetics
Background:
- Birdshot chorioretinopathy is a rare, bilateral inflammatory eye disease.
- Its exact etiology is unknown, but genetic factors are suspected.
- Human Leukocyte Antigen (HLA) associations are common in autoimmune diseases.
Purpose of the Study:
- To investigate the association of specific HLA antigens with birdshot chorioretinopathy.
- To determine the frequency of HLA-A29 and other HLA antigens in patients with this condition.
Main Methods:
- Retrospective analysis of 49 patients diagnosed with birdshot chorioretinopathy.
- HLA typing was performed on all patients.
- Comparison with a control group of normal European individuals for HLA-A2 frequency.
Main Results:
- A high prevalence of the HLA-A29 antigen was observed, present in 47 out of 49 patients (95.9%).
- The HLA-B12 (B44) antigen showed a significant association, likely due to linkage disequilibrium with HLA-A29.
- The HLA-A2 antigen was significantly less frequent in patients (20%) compared to controls (44.6%).
Conclusions:
- The HLA-A29 antigen is strongly associated with birdshot chorioretinopathy.
- This finding supports a significant genetic predisposition to the disease.
- Further research into the immunogenetic mechanisms underlying birdshot chorioretinopathy is warranted.