Question 1

What is Birdshot Chorioretinopathy?

Accepted Answer

Birdshot chorioretinopathy is a rare chronic inflammatory disease that affects the retina and choroid of the eye. It is strongly associated with the HLA-A29 genetic marker, which is present in 80-95% of patients with this condition. The HLA-A, B, C, DRB1 and DQ High Resolution test is the most important test for supporting the diagnosis of birdshot chorioretinopathy.

Question 2

What causes birdshot chorioretinopathy?

Accepted Answer

Birdshot chorioretinopathy is caused by an autoimmune inflammatory response that targets the retina and choroid of the eye. The condition is strongly linked to the HLA-A29 genetic marker, suggesting a genetic predisposition to this immune-mediated attack. While the exact trigger remains unknown, the presence of HLA-A29 in 80-95% of patients indicates that genetics play a central role in developing this rare inflammatory eye disease.

Question 3

What is the best test for birdshot chorioretinopathy?

Accepted Answer

The HLA-A, B, C, DRB1 and DQ High Resolution test is the most important blood test for birdshot chorioretinopathy because it detects the HLA-A29 genetic marker present in 80-95% of patients with this condition. While eye examinations and imaging are essential for clinical diagnosis, this genetic test provides crucial supporting evidence that helps confirm the diagnosis when combined with characteristic findings. The strong association between HLA-A29 and birdshot chorioretinopathy makes this test invaluable for ruling in or out the condition when symptoms suggest this rare inflammatory eye disease.

Question 4

When should I get tested for birdshot chorioretinopathy?

Accepted Answer

You should get tested if you experience floaters in your vision, decreased night vision, or blurred vision that your eye doctor suspects may be birdshot chorioretinopathy. Testing is also recommended if you have been told you have inflammation in the back of your eye and your ophthalmologist wants to confirm whether it matches the pattern of this rare condition. Early genetic testing with HLA-A29 can help establish the diagnosis sooner and guide appropriate treatment decisions.

Question 5

What are the symptoms of birdshot chorioretinopathy?

Accepted Answer

Symptoms of birdshot chorioretinopathy typically include floaters that look like spots or cobwebs in your vision, decreased night vision, and blurred or hazy vision. Many people also notice reduced color perception, sensitivity to light, and difficulty with depth perception. The symptoms usually develop gradually and affect both eyes, though one eye may be more affected than the other. Some patients experience mild eye discomfort, but significant pain is uncommon with this condition.

Question 6

Who is at risk for birdshot chorioretinopathy?

Accepted Answer

People who carry the HLA-A29 genetic marker are at higher risk for developing birdshot chorioretinopathy, as 80-95% of patients with this condition have this genetic trait. The disease most commonly affects individuals between ages 40 and 60, with a slightly higher occurrence in women. White individuals of European descent appear to have a higher prevalence of this condition. However, having the HLA-A29 marker alone does not mean you will definitely develop the disease, as many people with this genetic marker never experience symptoms.

Question 7

What happens if birdshot chorioretinopathy is left untreated?

Accepted Answer

If left untreated, birdshot chorioretinopathy can lead to progressive vision loss and permanent damage to the retina. Chronic inflammation can cause complications such as macular edema, retinal blood vessel leakage, and structural changes to the retina that affect central and peripheral vision. Some patients may develop cataracts, glaucoma, or retinal scarring over time. Early diagnosis through HLA-A29 testing and appropriate treatment with immunosuppressive medications can help preserve vision and prevent these serious complications.

Question 8

Can birdshot chorioretinopathy be diagnosed with a blood test?

Accepted Answer

Birdshot chorioretinopathy cannot be diagnosed by blood test alone, but the HLA-A29 genetic test provides crucial supporting evidence for the diagnosis. A comprehensive eye examination with specialized imaging studies is necessary to identify the characteristic inflammatory patterns in the retina and choroid. When these clinical findings are combined with a positive HLA-A29 blood test result, it strongly supports the diagnosis. The absence of HLA-A29 makes the diagnosis less likely but does not completely rule it out, as 5-20% of patients may not carry this genetic marker.

Question 9

How is birdshot chorioretinopathy treated?

Accepted Answer

Birdshot chorioretinopathy is treated with immunosuppressive medications that reduce the inflammatory response attacking the eye. Treatment often begins with corticosteroids, either as eye drops, injections, or oral medications, to quickly control inflammation. For long-term management, many patients require systemic immunosuppressive drugs such as methotrexate, azathioprine, mycophenolate, or cyclosporine to prevent disease progression. Biologic medications like adalimumab may be used in more severe cases. Regular monitoring with eye examinations is essential to assess treatment response and adjust medications as needed.

Question 10

How can I prevent birdshot chorioretinopathy?

Accepted Answer

Birdshot chorioretinopathy cannot be prevented because it is linked to genetic factors, specifically the HLA-A29 marker, which you inherit from your parents. Since the exact environmental triggers that activate the disease in people with this genetic predisposition are unknown, there are no proven prevention strategies. However, if you carry the HLA-A29 marker or have family members with autoimmune conditions, maintaining regular eye examinations can help detect the disease early if it develops. Early detection and prompt treatment are the best approaches to preserving vision and preventing complications.

Question 11

What can I do at home to help manage birdshot chorioretinopathy symptoms?

Accepted Answer

While home remedies cannot treat the underlying inflammation of birdshot chorioretinopathy, you can take steps to make daily activities easier. Use brighter lighting when reading or doing detailed work to compensate for decreased vision. Wearing sunglasses outdoors can help reduce light sensitivity and glare. Eating a diet rich in omega-3 fatty acids, leafy greens, and colorful vegetables may support overall eye health. Most importantly, take your prescribed medications exactly as directed, attend all follow-up appointments with your ophthalmologist, and report any sudden changes in vision immediately, as consistent medical management is essential for controlling this chronic condition.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

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Question 14

When will my lab results be available?

Accepted Answer

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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

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Question 18

How can I find a lab location near me?

Accepted Answer

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Birdshot Chorioretinopathy Blood Test

What is Birdshot Chorioretinopathy?

What causes birdshot chorioretinopathy?

What is the best test for birdshot chorioretinopathy?

When should I get tested for birdshot chorioretinopathy?

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