IRVAN syndrome
Synonyms: Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IRVAN syndrome | Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome |
| fr | Syndrome IRVAN | Syndrome de vascularite rétinienne idiopathique-anévrismes-neurorétinite |
| de | IRVAN-Syndrom | Idiopathische retinale Vaskulitis-Aneurysmen-Neuroretinitis-Syndrom |
| es | Síndrome IRVAN | Síndrome de vasculitis retiniana idiopática-aneurismas-neurorretinitis |
| it | Sindrome IRVAN | Sindrome vasculite retinica idiopatica-aneurismi-neuroretinite |
| nl | IRVAN-syndroom | Idiopathisch retinale vasculitis - aneurysma's - neuroretinitis-syndroom |
| pt | Síndrome IRVAN | |
| pl | Zespół IRVAN | Zespół idiopatycznego zapalenia naczyń siatkówki, tętniaków i zapalenia nerwu wzrokowego i siatkówki |
| cs | IRVAN syndrom | Syndrom zahrnující idiopatickou retinální vaskulitidu, aneuryzma a neuroretinitidu |
| uk | Синдром IRVAN | Ідіопатичний васкуліт сітківки - аневризми - синдром нейроретиніту |
| zh | 特发性视网膜血管炎、动脉瘤和视神经视网膜炎综合征 | 特发性视网膜血管炎、动脉瘤和视神经视网膜炎综合征 |
| tr | IRVAN sendromu | İdiyopatik retinal vaskülit-anevrizmalar-nöroretinit sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H35.0 | NTBT | attributed | validated |
| ICD-11 | 9B7Y | NTBT | index | validated |
| MONDO | 0016205 | E | validated | |
| UMLS | C3665812 | E | validated | |
| GARD | 12868 | E | validated | |
| MedDRA | 10073929 | 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:71281Rare central nervous system and retinal vascular disease
rare neurological diseases - ORPHA:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
11 annotations · validated 2016-10-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007906 | Ocular hypertension | |
| HP:0007663 | Reduced visual acuity | |
| HP:0100832 | Vitreous floaters | |
| Occasional (29-5%) | ||
| HP:0000622 | Blurred vision | |
| HP:0000501 | Glaucoma | |
| HP:0040049 | Macular edema | |
| HP:0000648 | Optic atrophy | |
| HP:0000613 | Photophobia | |
| HP:0000541 | Retinal detachment | |
| HP:0001147 | Retinal exudate | |
| HP:0007917 | Tractional retinal detachment | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209943
- This record as JSON: /data/d/209943.json