Idiopathic macular telangiectasia type 1
Synonyms: Aneurysmal telangiectasia · Visible and exudative idiopathic juxtafoveolar retinal telangiectasis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic macular telangiectasia type 1 | Aneurysmal telangiectasia · Visible and exudative idiopathic juxtafoveolar retinal telangiectasis |
| fr | Télangiectasie maculaire idiopathique type 1 | Télangiectasie rétinienne juxtafovéolaire idiopathique visible et exsudative · Télangiectasie rétinienne périfovéolaire idiopathique visible et exsudative |
| de | Idiopathische makuläre Teleangiektasie Typ 1 | Exsudative idiopathische juxtafoveoläre retinale Teleangiektasie · Teleangiektasie, aneurysmatische |
| es | Telangiectasia macular idiopática tipo 1 | Telangiectasia aneurismática · Telangiectasia retiniana yuxtafoveolar idiopática visible y exudativa |
| it | Telangectasia maculare idiopatica, tipo 1 | Telangectasia aneurismatica · Telangectasia retinica iuxtafoveale idiopatica visibile ed essudativa |
| nl | Idiopathische maculaire teleangiëctasie type 1 | Aneurysmale teleangiëctasie · Zichtbare en exsudatieve idiopathische juxtafoveolaire retinale teleangiëctasie |
| pt | Telangiectasia idiopática macular, tipo 1 | |
| pl | Idiopatyczna teleangiektazja plamki typu 1 | Teleangiektazja tętniakowata · Wzrokowa i wysiękowa idiopatyczna teleangiektazja okołodołeczkowa siatkówki |
| cs | Idiopatická makulární teleangiektázie, typ 1 | Aneuryzmální telangiektázie · Viditelné a exudativní idiopatické juxtafoveolární teleangiektázie sítnice |
| uk | Ідіопатична макулярна телеангіектазія, тип 1 | Аневризматична телеангіектазія · Видимий та ексудативний ідіопатичний юкстафовеолярний телеангіоектаз сітківки |
| zh | 特发性黄斑毛细血管扩张症1型 | 可见渗出性特发性近视网膜毛细血管扩张 |
| tr | İdiyopatik maküler telenjiektazi tip 1 | Anevrizmal telenjiektazi · Görünür ve eksudatif idiyopatik jukstafoveolar retinal telenjiektazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H35.0 | NTBT | attributed | validated |
| ICD-11 | 9B75.3 | NTBT | index | validated |
| MONDO | 0018146 | E | validated | |
| UMLS | C4751437 | 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 (1):
- ORPHA:482092Rare idiopathic macular telangiectasia
rare neurological diseases; 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 | 24 cases | Worldwide | Case(s) | Validated | 22219035[PMID]_26028942[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 22219035[PMID]_26028942[PMID]_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/353344
- This record as JSON: /data/d/353344.json