Birdshot chorioretinopathy
Birdshot chorioretinopathy (HLA-A29 uveitis) | |
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Other names | Multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk, Vitiliginous choroiditis |
Characteristic hypo-pigmentation in birdshot chorioretinopathy | |
Specialty | Ophthalmology |
Birdshot chorioretinopathy, now commonly named birdshot uveitis or HLA-A29 uveitis,
Affected individuals are almost exclusively Caucasian and usually diagnosed in the fourth to sixth decade of their lives.[5]
Symptoms and signs
Symptoms of this disorder include
Pathophysiology
Birdshot chorioretinopathy is a rare form of posterior
In 2014, Kuiper et al. conducted a genome-wide association study in birdshot chorioretinopathy and studied the entire genome of Dutch, Spanish and English patients. 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.[8] Genetic variants near ERAP2 on chromosome 5 resulted in high mRNA and protein expression of this aminopeptidase in BSCR patients. ERAP2 is an aminopeptidase that, together with the closely related ERAP1, trims peptides in the endoplasmic reticulum and loads these peptides on HLA molecules for presentation to T cells of the immune system. ERAP-HLA associations have also been reported in Ankylosing spondylitis and Behcet's disease, suggesting shared pathogenic pathways among these diseases. The combined Birdshot risk polymorphisms at 5q15 linked to ERAP1 and ERAP2 genes (T-rs10044354-C-rs2287987) are only observed in HLA-A29-positive individuals in populations in which BU is "endemic", explaining why BU is reported merely in populations of Western European Ancestry (Spain, France, The Netherlands, Great Britain, but also non-european countries such as Puerto Rico). [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.[10]
Diagnosis
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Treatment
Birdshot chorioretinopathy may show resistance to treatment.
Immunosuppressive drugs such as the
A corticosteroid implant surgically placed within the eye can be used for patients who are not able to achieve remission on or tolerate immunomodulatory therapy, or in cases where this option presents less of a burden on life than long-term medical therapy.
References
- ^ PMID 28314830.
- ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Birdshot chorioretinopathy". www.orpha.net. Retrieved 2017-07-02.
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: CS1 maint: numeric names: authors list (link) - ^ "Birdshot chorioretinopathy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2018-03-04. Retrieved 2017-07-02.
- ^ "Birdshot Retinopathy: Background, Pathophysiology, Epidemiology". 2017-05-02.
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(help) - PMID 10896989.
- ^ PMID 21570674.
- PMID 24379648.
- PMID 24957906.
- PMID 33262772.
- PMID 33717175.
- PMID 15936442.
- S2CID 1554209.
- S2CID 6475153.
- PMID 18268208.