Idiopathic uveal effusion syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- active
A rare panuveitis characterized by uni- or bilateral abnormal fluid accumulation within the suprachoroidal space, resulting in internal choroidal elevation, in the absence of any known cause, such as decreased intraocular tension, intraocular tumor, intraocular inflammation or nanophtalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic uveal effusion syndrome | |
| fr | Syndrome d'effusion uvéale idiopathique | |
| de | Uveales Effusions-Syndrom, idiopathisches | |
| es | Síndrome de efusión uveal idiopático | |
| it | Sindrome idiopatica da effusione uveale | |
| nl | Idiopathische uveale effusie-syndroom | |
| pt | Síndrome de derrame uveal idiopática | |
| pl | Idiopatyczny zespół wysiękowy naczyniówki | |
| cs | Syndrom idiopatické uveální efuze | |
| uk | Синдром ідіопатичного увеального випоту | |
| zh | 特发性葡萄膜积液综合征 | |
| tr | İdiyopatik uveal efüzyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H31.8 | NTBT | attributed | validated |
| ICD-11 | 9B6Y | NTBT | index | validated |
| MONDO | 0016206 | E | validated | |
| UMLS | C4755300 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:280898Panuveitis
rare ophthalmic disorders - ORPHA:716213Rare isolated developmental choroidal disorder
rare developmental anomalies during embryogenesis; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
14 annotations · validated 2019-07-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000591 | Abnormal sclera morphology | |
| Frequent (79-30%) | ||
| HP:0004328 | Abnormal anterior eye segment morphology | |
| HP:0012231 | Exudative retinal detachment | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0007663 | Reduced visual acuity | |
| HP:0030823 | Scleral thickening | |
| HP:0031526 | Subretinal fluid | |
| HP:0025339 | Superficial episcleral hyperemia | |
| Occasional (29-5%) | ||
| HP:0000622 | Blurred vision | |
| HP:0012508 | Metamorphopsia | |
| HP:0000568 | Microphthalmia | |
| HP:0008052 | Retinal fold | |
| HP:0001123 | Visual field defect | |
| Excluded (0%) | ||
| HP:0012632 | Abnormal intraocular pressure | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 22218051[PMID]_6676971[PMID]_8762565[PMID]_17458802[PMID]_20159229[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209956
- This record as JSON: /data/d/209956.json