Understanding Lab Tests for Birdshot Chorioretinopathy

Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025

Birdshot chorioretinopathy is a rare form of chronic inflammatory eye disease that primarily affects the retina and choroid. While the diagnosis is typically made through comprehensive eye examinations and imaging, there is no single blood test that directly diagnoses this condition. However, genetic testing plays a fundamental supporting role in the diagnostic process.

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This comprehensive HLA typing test is crucial for identifying the HLA-A29 marker, which is strongly associated with birdshot chorioretinopathy. The presence of HLA-A29 provides important genetic evidence that supports the diagnosis of this rare inflammatory eye disease when combined with clinical findings.

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Why Blood Testing is Important for Birdshot Chorioretinopathy

Blood testing for specific genetic markers is essential for supporting the diagnosis of birdshot chorioretinopathy. The presence of certain HLA (Human Leukocyte Antigen) markers, particularly HLA-A29, is strongly associated with this condition and can provide valuable diagnostic confirmation when clinical findings suggest this rare eye disease.

Understanding HLA-A29 and Birdshot Chorioretinopathy

HLA-A29 is found in approximately 80-95% of patients with birdshot chorioretinopathy, making it a valuable diagnostic marker. While the presence of HLA-A29 alone does not diagnose the condition, its strong association helps healthcare providers confirm the diagnosis when combined with characteristic eye examination findings and symptoms.

Important Considerations

The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider, particularly an ophthalmologist, for proper diagnosis and treatment of eye conditions.

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