Birdshot Chorioretinopathy

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Test Type: Kit Based, Buccal Swab


Birdshot Chorioretinopathy is a rare form of bilateral posterior uveitis, accounting for between 1 – 3% of all uveitis cases. A slight female predominance has been reported. The disease is uncommon in children.

Birdshot Chorioretinopathy causes severe, progressive inflammation of both the choroid and the retina. The name of the disease stems from the hypopigmentation pattern of the lesion on the retina, which resembles the impacts from a shotgun. Symptoms of Birdshot Chorioretinopathy include retinal vasculitis, particulate matter in the vitreous or vitreous inflammation, macular edema, flashing lights in the eyes, night blindness and loss of color vision. A frequent prognosis is complete loss of visual acuity.

Clinical Utility

Birdshot Chorioretinopathy has the strongest association to the HLA-A*29 antigen. More than 95% of patients carry the HLA-A*29 antigen with the relative risk of HLA-A*29 carriers developing Birdshot Chorioretinopathy being estimated at between 50 and 250. The mechanism by which HLA-A*29 confers susceptibility to Birdshot Chorioretinopathy is unknown. Proposals include antigen specific molecular mimicry following an infection or a role for retinal S-Antigen.

The presence of HLA-A*29 alone is not sufficient for a diagnosis of Birdshot Chorioretinopathy, as there are many cases of patients who do not carry HLA-A*29. Nonetheless the strong association suggests that genetic testing for HLA-A*29 is useful as a supportive finding as part of the diagnosis.

Collection Details:

Collection Instructions:

1. Please fill out all sections of the requisition form provided in your kit.

2. Rinse your mouth with cold water before you begin collecting your sample and then swallow to remove excess saliva.

3. Open one swab at a time and collect the sample by rubbing the swab on the inside of your cheek about 20 times or for 15-20 seconds in a circular motion. Swab firmly so that the cheek is pushed outward.

4. Dry the swab by shaking it in the air for 10-20 seconds.

5. Place the dried swab back in its original sleeve.

6. Use the other cheek for the next swabs. Repeat the same process for the rest of the swabs.  Collect sample on all 3 swabs.

6. Place the swab sleeves containing the dry swabs and Requisition Form in the Kashi paper envelope included in the kit.

7. [Important] Sign and fill in your name and date of sample collection on the envelope.



8. Ship the test kit back to the laboratory using the shipping mailer provided.