ORPHA:40923
Eales disease
Synonyms: Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Eales disease | Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis |
| fr | Maladie d'Eales | Perivascularite rétinienne idiopathique · Vascularite rétinienne idiopathique |
| de | Eales-Krankheit | Idiopathische Perivaskulitis der Retina · Idiopathische retinale Pervaskulitis |
| es | Enfermedad de Eales | Perivasculitis retiniana idiopática · Vasculitis retiniana idiopática |
| it | Malattia di Eales | Perivasculite retinica idiopatica · Vasculite retinica idiopatica |
| nl | Ziekte van Eales | Idiopathische retinale perivasculitis · Idiopathische retinale vasculitis |
| pt | Doença de Eales | |
| pl | Choroba Ealesa | Idiopatyczne zapalenie naczyń siatkówki · Idiopatyczne zapalenie okołonaczyniowe siatkówki |
| cs | Ealesova nemoc | Idiopatická retinální perivaskulitida · Idiopatická retinální vaskulitida |
| uk | Хвороба Ілза | Ідіопатичний периваскуліт сітківки · Ідіопатичний васкуліт сітківки |
| zh | Eales病 | 特发性视网膜性血管周炎 |
| tr | Eales hastalığı | İdiyopatik retinal vaskülit · İdiyopatik retinal perivaskülit |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H35.0 | NTBT | index | validated |
| ICD-11 | 9B77 | E | specific | validated |
| MONDO | 0018460 | E | validated | |
| MeSH | C538011 | E | validated | |
| UMLS | C0271073 | E | validated | |
| GARD | 6309 | E | validated | |
| MedDRA | 10057429 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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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.
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HPO phenotypes
30 annotations · validated 2021-09-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002315 | Headache | |
| HP:0025188 | Retinal vasculitis | |
| HP:0007902 | Vitreous hemorrhage | |
| Occasional (29-5%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0012122 | Anterior uveitis | |
| HP:0000618 | Blindness | |
| HP:0002019 | Constipation | |
| HP:0011505 | Cystoid macular edema | |
| HP:0000421 | Epistaxis | |
| HP:0000501 | Glaucoma | |
| HP:0030773 | Internuclear ophthalmoplegia | |
| HP:0011497 | Iris neovascularization | |
| HP:0040049 | Macular edema | |
| HP:0007052 | Multifocal cerebral white matter abnormalities | |
| HP:0000543 | Optic disc pallor | |
| HP:0030667 | Peripheral retinal neovascularization | |
| HP:0030786 | Photopsia | |
| HP:0007663 | Reduced visual acuity | |
| HP:0030329 | Retinal thinning | |
| HP:0012230 | Rhegmatogenous retinal detachment | |
| HP:0002313 | Spastic paraparesis | |
| HP:0007917 | Tractional retinal detachment | |
| HP:0100832 | Vitreous floaters | |
| HP:0030652 | Vitreous haze | |
| HP:0011531 | Vitritis | |
| Very rare (<4-1%) | ||
| HP:0100014 | Epiretinal membrane | |
| HP:0002140 | Ischemic stroke | |
| HP:0002196 | Myelopathy | |
| HP:0025239 | Subhyaloid hemorrhage | |
| HP:0002326 | Transient ischemic attack | |
Annotation source: 32644547[PMID]_33314007[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/40923
- This record as JSON: /data/d/40923.json