Retinal cavernous hemangioma
Synonyms: Cavernous hemangioma of the retina · RCH
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Retinal cavernous hemangioma | Cavernous hemangioma of the retina · RCH |
| fr | Hémangiome caverneux rétinien | Hémangiome caverneux de la rétine |
| de | Retinales kavernöses Hämangiom | RCH · Kavernom der Retina · Kavernöses Hämangiom der Netzhaut |
| es | Hemangioma cavernoso retiniano | Hemangioma cavernoso de la retina |
| it | Emangioma cavernoso retinico | RCH · Emangioma cavernoso della retina |
| nl | Caverneus hemangioom van retina | Retinaal caverneus hemangioom · Caverneus hemangioom van netvlies · RCH |
| pt | Malformação capilar da retina | Hemangioma cavernoso da retina |
| pl | Naczyniak jamisty siatkówki | Malformacja naczyń włosowatych siatkówki |
| cs | Kavernózní hemangiom sítnice | = en |
| uk | Капілярна мальформація сітківки | Кавернозна гемангіома сітківки |
| zh | 视网膜毛细血管畸形 | |
| tr | Retinal kılcal damar malformasyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D18.0 | NTBT | attributed | validated |
| ICD-11 | LD23 | NTBT | index | validated |
| MONDO | 0019101 | E | validated | |
| UMLS | C0730304 | 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 (4):
- ORPHA:673470Benign vascular tumor
rare developmental anomalies during embryogenesis; rare circulatory system diseases; rare neoplastic diseases - ORPHA:371436Genetic neurovascular malformation
rare genetic diseases - 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 | 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
19 annotations · validated 2019-06-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007663 | Reduced visual acuity | |
| HP:0009711 | Retinal capillary hemangioma | |
| Occasional (29-5%) | ||
| HP:0000646 | Amblyopia | |
| HP:0012803 | Anisometropia | |
| HP:0000618 | Blindness | |
| HP:0000622 | Blurred vision | |
| HP:0008014 | Central fundal arteriolar microaneurysms | |
| HP:0100014 | Epiretinal membrane | |
| HP:0000501 | Glaucoma | |
| HP:0011886 | Hyphema | |
| HP:0000545 | Myopia | |
| HP:0012531 | Pain | |
| HP:0030528 | Paracentral scotoma | |
| HP:0030786 | Photopsia | |
| HP:0000529 | Progressive visual loss | |
| HP:0001147 | Retinal exudate | |
| HP:0011532 | Subretinal exudate | |
| HP:0100832 | Vitreous floaters | |
| HP:0007902 | Vitreous hemorrhage | |
Annotation source: 1106760[PMID]_24849703[PMID]_22738997[PMID]_19020641[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71213
- This record as JSON: /data/d/71213.json