ORPHA:179
Birdshot chorioretinopathy
Synonyms: Birdshot chorioretinitis · Birdshot retinochoroiditis · Birdshot retinochoroidopathy · Vitiliginous choroiditis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult, Elderly
- Status
- active
Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Birdshot chorioretinopathy | Birdshot chorioretinitis · Birdshot retinochoroiditis · Birdshot retinochoroidopathy · Vitiliginous choroiditis |
| fr | Choriorétinopathie type birdshot | Choriorétinite type birdshot · Rétinochoroïdite type birdshot · Rétinochoroïdopathie type birdshot |
| de | Chorioretinopathie Typ Birdshot | Birdshot-Chorioretinopathie · Birdshot-Retinochoroidopathie |
| es | Coriorretinopatía "birdshot" | Coriorretinitis "birdshot" · Coriorretinopatía en perdigonada · Coroiditis vitiliginosa · Retinocoroiditis "birdshot" · Retinocoroidopatía "birdshot" |
| it | Corioretinopatia "birdshot" | Corioretinite ''birdshot'' · Coroidite vitiliginosa · Retinocoroidite ''birdshot'' · Retinocoroidopatia ''birdshot'' |
| nl | Chorioretinopathie, Birdshot-type | Birdshot chorioretinitis · Birdshot retinochoroïditis · Birdshot retinochoroïdopathie · Vitiligineuze choroïditis |
| pt | Corio-retinopatia "birdshot" | Corioretinite "birdshot" · Coroidite vitiliginosa · Retinocoroidite "birdshot" · Retinocoroidopatia "birdshot" |
| pl | Chororetinopatia typu birdshot (kuli małego kalibru) | Retinochoroidopatia typu birdshot · Vitiligo/bielactwo naczyniówki · Zapalenie siatkówki i naczyniówki typu birdshot |
| cs | Birdshot chorioretinopatie | Birdshot chorioretinitida · Birdshot retinochoroiditida · Birdshot retinochoroidopatie · Vitiliginní choroiditida |
| uk | Дробоподібна хоріоретинопатія | Пташиний хоріоретиніт · Пташиний ретинохороїдит · Пташина ретинохороїдопатія · Вітілігінозний хоріоїдит |
| zh | 鸟枪弹样脉络膜视网膜病变 | 鸟枪弹样视网膜脉络膜病变 |
| tr | Birdshot korioretinopati | Birdshot korioretinit · Vitiliginöz koroidit · Birdshot retinokoroidit · Birdshot retinokoroidopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605808 | E | validated | |
| ICD-10 | H30.1 | NTBT | attributed | validated |
| ICD-11 | 9B65.0 | NTBT | index | validated |
| MONDO | 0011599 | E | validated | |
| MeSH | D000080365 | E | validated | |
| UMLS | C1853959 | E | validated | |
| GARD | 5926 | E | validated | |
| MedDRA | 10072959 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:90061Non-infectious posterior uveitis
rare ophthalmic disorders - ORPHA:716195Rare inflammatory choroidal disorder
rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HLA-A | Major susceptibility factor in | Assessed | HGNC:4931 | ENSG00000206503 | 142800 | 6p22.1 | major histocompatibility complex, class I, A | 24474930[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.35 / 100 000 | Worldwide | Value and class | Validated | 27175923[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.14 / 100 000 | United States | Value and class | Validated | 16263368[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
23 annotations · validated 2016-12-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000610 | Abnormal choroid morphology | |
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0000532 | Chorioretinal abnormality | |
| HP:0011505 | Cystoid macular edema | |
| HP:0007906 | Ocular hypertension | |
| HP:0030609 | Photoreceptor layer loss on macular OCT | |
| HP:0000572 | Visual loss | |
| HP:0011531 | Vitritis | |
| Frequent (79-30%) | ||
| HP:0007843 | Attenuation of retinal blood vessels | |
| HP:0030644 | Blind-spot enlargment | |
| HP:0000622 | Blurred vision | |
| HP:0000518 | Cataract | |
| HP:0100014 | Epiretinal membrane | |
| HP:0100533 | Inflammatory abnormality of the eye | |
| HP:0011508 | Macular hole | |
| HP:0200056 | Macular scar | |
| HP:0000543 | Optic disc pallor | |
| HP:0000613 | Photophobia | |
| HP:0030329 | Retinal thinning | |
| HP:0100832 | Vitreous floaters | |
| Occasional (29-5%) | ||
| HP:0030530 | Arcuate scotoma | |
| HP:0011506 | Choroidal neovascularization | |
| HP:0000541 | Retinal detachment | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 27847627[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/179
- This record as JSON: /data/d/179.json