Rare Medical News
Advertisement
Spotlight On
Birdshot Uveitis
Birdshot Uveitis is a rare ophthalmic disorder that primarily affects ocular structures such as the retina, optic nerve, or cornea
Prevalence
>1 / 100 000
330–2,000
US Estimated
450–2,700
Europe Estimated
Age of Onset
Adult
ICD-10
H30.1
Inheritance Pattern
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
Rare View
Birdshot Uveitis is a chronic, bilateral, posterior uveitis/retinochoroiditis strongly associated with HLA-A29 and characterized by progressive retinal inflammation with potential for irreversible vision loss. It typically presents in middle age with symptoms driven by vitreous inflammation, retinal vasculitis, and macular edema. Diagnosis is clinical plus multimodal imaging (FA/ICGA/OCT) and HLA-A29 testing supports (but is not strictly required for) classification.
5 Facts you should know
FACT
Birdshot Uveitis is a rare, chronic, bilateral form of posterior uveitis primarily affecting the eyes, characterized by small, hypopigmented choroidal lesions resembling "birdshot" on fundus examination
FACT
It typically occurs in individuals of Northern European descent and presents with blurred vision, floaters, and visual field disturbances, often with an insidious onset and recurrent nature
FACT
Diagnosis involves a comprehensive eye examination, including fundoscopy revealing characteristic choroidal lesions, fluorescein angiography, optical coherence tomography (OCT), and HLA typing
FACT
Management requires a multidisciplinary approach involving ophthalmologists and rheumatologists, utilizing corticosteroids, immunosuppressive therapies, and biologics to control inflammation and preserve vision
FACT
5
Birdshot Uveitis is strongly associated with the HLA-A29 antigen. Long-term follow-up and monitoring are crucial due to the potential for vision-threatening complications and systemic involvement
Interest over time
Google searches
Common signs & symptoms
Blurred vision, often fluctuating
Floaters due to vitreous inflammation
Photopsias, described as flashing or shimmering lights
Reduced contrast sensitivity
Nyctalopia (impaired night vision)
Visual field defects, typically peripheral and progressive over time
Bilateral involvement, usually affecting both eyes
Minimal anterior chamber inflammation, with predominant posterior segment disease
Current treatments
While there is no cure, treatment aims to slow disease progression and manage complications.
Corticosteroids
(local/periocular/intravitreal or systemic) for induction/control of flares
Steroid-sparing immunomodulatory therapy for chronic control
- Antimetabolites: mycophenolate, methotrexate, azathioprine
- Calcineurin inhibitors: cyclosporine, tacrolimus (selected cases)
Biologics (refractory disease / steroid-sparing)
- Anti-TNF agents (e.g., adalimumab) used in some refractory cases
Treat complications
CME management, IOP monitoring, cataract/glaucoma surveillance; long-term imaging/ERG/fields for progression
Top Clinical Trials
| Title | Description | Phases | Status | Interventions | More Information |
|---|---|---|---|---|---|
| Birdshot Chorioretinopathy : Prospective Follow-up and Immunogenetic Studies(CO-BIRD) | The purpose of this study is twofold: 1. To analyze the clinical features of a cohort of patients with birdshot chorioretinopathy (BCR), an inflammatory bilateral ocular disease, affecting the choroid and the retina. Various imaging techniques will be used to assess the effect of the disease on... | Recruiting | Other: Observational study | More Info | |
| Quantification & Classification of Inflammatory Cells in Uveitis Using OCT | The goal of this study is to determine if it's possible to use a high resolution imaging device called optical coherence tomography (OCT) to develop an unbiased, standard method of counting and categorizing the various types of cells and proteins found in an eye condition called anterior uveitis. An... | Recruiting | More Info | ||
| A Biospecimen Collection Study to Identify the Targets of Disease-Reactive T Cells in Patients With Autoimmune Disease | The most clinically meaningful way to discover new targets of T cells in autoimmune diseases is to study the tissues of patients with active autoimmune disease mediated organ inflammation. These tissues contain both cytotoxic and helper T cells that are driving their disease, and these T cells are b... | Recruiting | Procedure: Companion blood samples with procedure | More Info |
References:
- Priem H. Birdshot chorioretinopathy. Orphanet. 2004.
- Kuiper JJW, et al. HLA-A29 and Birdshot Uveitis: Further Down the Rabbit Hole. Int J Mol Sci. 2020.
- Crowell EL, et al. Treatment Outcomes in Birdshot Chorioretinitis. Ophthalmology Retina. 2022