Congenital retinal arteriovenous communication
Synonyms: Congenital arteriovenous anastomoses of the retina · Congenital arteriovenous communication of the retina · Congenital retinal arteriovenous anastomoses
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurovascular malformation characterized by a unilateral, direct communication between the arterial and venous system in the retina via abnormal, enlarged vessels, but without interposed capillaries. The inferotemporal vasculature is most commonly affected. Patients may be asymptomatic or present with variable degrees of visual loss. Local vascular complications include vascular occlusions or retinal or vitreous hemorrhages. The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital retinal arteriovenous communication | Congenital arteriovenous anastomoses of the retina · Congenital arteriovenous communication of the retina · Congenital retinal arteriovenous anastomoses |
| fr | Communication artérioveineuse rétinienne congénitale | Anastomose artérioveineuse congénitale de la rétine · Anastomose artérioveineuse rétinienne congénitale · Communication artérioveineuse congénitale de la rétine |
| de | Retinale arteriovenöse Kommunikation, kongenitale | Anastomose, arteriovenöse retinale, kongenitale |
| es | Comunicación arteriovenosa retiniana congénita | Anastomosis arteriovenosa congénita de la retina · Anastomosis arteriovenosa retiniana congénita · Comunicación arteriovenosa congénita de la retina |
| it | Comunicazione arterovenosa retinica congenita | Anastomosi arterovenosa congenita della retina · Anastomosi arterovenosa retinica congenita · Comunicazione arterovenosa congenita della retina |
| nl | Congenitale retinale arterioveneuze communicatie | Congenital arterioveneuze communicatie van de retina · Congenitale arterioveneuze anastomoses van de retina · Congenitale retinale arterioveneuze anastomoses |
| pt | Comunicação arteriovenosa congénita da retina | |
| pl | Wrodzone połączenie tętniczo-żylne w siatkówce | Wrodzone anastomozy tętniczo-żylne w siatkówce |
| cs | Vrozené arteriovenózní anastomózy sítnice | Vrozená arteriovenózní komunikace na sítnici |
| uk | Вроджена артеріовенозна комунікація сітківки | Вроджені артеріовенозні анастомози сітківки · Вроджена артеріовенозна комунікація сітківки · Вроджені артеріовенозні анастомози сітківки |
| zh | 先天性视网膜动静脉交通 | 视网膜先天性动静脉交通 |
| tr | Doğumsal retinal arteriyovenöz iletişim | Doğumsal retinal arteriyovenöz anastomozlar · Retinanın doğumsal arteriyovenöz anastomozları · Retinanın doğumsal arteriyovenöz bağlantısı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q14.1 | NTBT | attributed | validated |
| MONDO | 0018145 | E | validated | |
| UMLS | C0521570 | E | validated | |
| MedDRA | 10038824 | 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:102006Neurovascular malformation
rare neurological diseases - ORPHA:716450Rare non-progressive retinal vasculopathy
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 | <1 / 1 000 000 | — | Europe | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/353334
- This record as JSON: /data/d/353334.json