Birdshot chorioretinopathy

This large genetic study ascertained HLA-A29:02 as the primary risk factor and identified the endoplasmic reticulum aminopeptidase (ERAP) 2 gene strongly associated with birdshot chorioretinopathy.

[9] Functional analysis of patient-derived immune cells revealed that ERAP2 increases the abundance of peptides that specifically bind to HLA-A29 and further supports that the antigen presentation pathway drives the etiology of BSCR.

Immunosuppressant therapy along with oral corticosteroid has been somewhat effective in slowing down the progressive inflammation associated with the disorder, preserving visual integrity as much as possible.

[11][12] Immunosuppressive drugs such as the therapeutic monoclonal antibody daclizumab, ciclosporin, methotrexate and Adalimumab, sold under the trade name Humira, have proven to be effective treatment options for birdshot chorioretinopathy.

Substantial reduction and even stabilization of both vitreous inflammation and retinal vasculitis have been evident via electroretinography, during daclizumab (IL-2 receptor blocker) therapy.

This is reflected by the lack of difference in visual acuity and the vision-related quality of life among various treatment categories in birdshot patients.