Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment.

Evangelos Minos,Alastair K Denniston,Philip I Murray,Sue Southworth,Annie Folkard,Pearse A Keane,Jay S Duker,Robert J Barry

doi:10.1186/s13023-016-0429-8

Abstract

Birdshot chorioretinopathy (BCR) is a rare form of chronic, bilateral, posterior uveitis with a distinctive clinical phenotype, and a strong association with HLA-A29. It predominantly affects people in middle age. Given its rarity, patients often encounter delays in diagnosis leading to delays in adequate treatment, and thus risking significant visual loss. Recent advances have helped increase our understanding of the underlying autoimmune mechanisms involved in disease pathogenesis, and new diagnostic approaches such as multimodality imaging have improved our ability to both diagnose and monitor disease activity. Whilst traditional immunosuppressants may be effective in BCR, increased understanding of immune pathways is enabling development of newer treatment modalities, offering the potential for targeted modulation of immune mediators. In this review, we will discuss current understanding of BCR and explore recent developments in diagnosis, monitoring and treatment of this disease.Synonyms for BCR: Birdshot chorioretinopathy, Birdshot retinochoroiditis, Birdshot retino-choroidopathy, Vitiliginous choroiditis.Orphanet number: ORPHA179OMIM: 605808.

Highlights

Birdshot chorioretinopathy (BCR) is a bilateral, autoimmune posterior uveitis with a distinct clinical phenotype and a strong association with HLA-A29
The first use of the term “birdshot retinochoroidopathy” was in 1980 when Ryan and Maumenee described 13 patients with a distinct syndrome characterized by a white, painless eye with minimal anterior segment inflammation, but with vitritis, retinal vascular leakage and cream-coloured spots at the level of the retinal pigment epithelium (RPE) or deeper layers [2]
In the retrospective series reported by Kiss et al, 26 of 28 patients receiving immunomodulatory therapy (IMT) for BCR received cyclosporine A (CsA) alone or in combination with MTX, azathioprine, mycophenolate mofetil (MMF) or daclizumab, with favourable visual outcome, inflammatory control, stabilization of ERG parameters, and the absence of demonstrable nephrotoxic side effects [67]

Summary

Introduction

Birdshot chorioretinopathy (BCR) is a bilateral, autoimmune posterior uveitis with a distinct clinical phenotype and a strong association with HLA-A29. In the retrospective series reported by Kiss et al, 26 of 28 patients receiving IMT for BCR received CsA alone or in combination with MTX, azathioprine, MMF or daclizumab, with favourable visual outcome, inflammatory control, stabilization of ERG parameters, and the absence of demonstrable nephrotoxic side effects [67].

Results

Conclusion