{"orpha":353344,"name":"Idiopathic macular telangiectasia type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aneurysmal telangiectasia","Visible and exudative idiopathic juxtafoveolar retinal telangiectasis"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-353344/","orphanet_url":"https://www.orpha.net/en/disease/detail/353344","names":{"fr":{"name":"Télangiectasie maculaire idiopathique type 1","synonyms":["Télangiectasie rétinienne juxtafovéolaire idiopathique visible et exsudative","Télangiectasie rétinienne périfovéolaire idiopathique visible et exsudative"],"definition":"Maladie oculaire rare et acquise, caractérisée par une dilatation et une tortuosité capillaires anormales autour de la fovéa (affectant un seul côté et rarement les deux), associée à de multiples anévrismes des artères et des veines, à des dépôts lipidiques et à une dégénérescence cystoïde intrarétinienne. Elle entraîne une perte de vision due à un oedème maculaire avec des exsudats durs."},"de":{"name":"Idiopathische makuläre Teleangiektasie Typ 1","synonyms":["Exsudative idiopathische juxtafoveoläre retinale Teleangiektasie","Teleangiektasie, aneurysmatische"],"definition":"Die idiopathische makuläre Teleangiektasie Typ 1 ist eine seltene erworbene Augenerkrankung, die durch abnorm erweiterte und gewundene Kapillaren um die Fovea auf einer Seite (selten auf beiden Seiten) gekennzeichnet ist und mit multiplen arteriellen und venösen Aneurysmen, Lipidablagerungen und intraretinaler zystoider Degeneration einhergeht. Sie führt zu einem Sehverlust durch ein Makulaödem mit harten Exsudaten."},"es":{"name":"Telangiectasia macular idiopática tipo 1","synonyms":["Telangiectasia aneurismática","Telangiectasia retiniana yuxtafoveolar idiopática visible y exudativa"],"definition":"La telangiectasia macular idiopática tipo 1 es una enfermedad ocular adquirida y poco frecuente caracterizada por capilares tortuosos y anómalamente dilatados, unilaterales (excepcionalmente bilaterales) alrededor de la fóvea, asociada a múltiples aneurismas arteriales y venosos, depósitos lipídicos y degeneración cistoide intrarretiniana. Conduce a pérdida de visión debida a edema macular con exudados duros."},"it":{"name":"Telangectasia maculare idiopatica, tipo 1","synonyms":["Telangectasia aneurismatica","Telangectasia retinica iuxtafoveale idiopatica visibile ed essudativa"],"definition":"La telangectasia maculare idiopatica tipo 1 è una malattia acquisita rara dell'occhio, caratterizzata da capillari monolateralmente (di rado bilateralmente) tortuosi e dilatati in modo anomalo attorno alla fovea, associati ad aneurismi multipli delle arteriole e delle venule, depositi di lipidi e degenerazione cistoide intra-retinica. La malattia porta alla perdita della vista a causa dell'edema maculare con essudati duri."},"nl":{"name":"Idiopathische maculaire teleangiëctasie type 1","synonyms":["Aneurysmale teleangiëctasie","Zichtbare en exsudatieve idiopathische juxtafoveolaire retinale teleangiëctasie"],"definition":"Idiopathische maculaire teleangiëctasie type 1 is een zeldzame, verworven oogziekte die gekarakteriseerd wordt door unilaterale (zelden bilaterale) abnormaal verwijde en kronkelige capillairen rond de fovea, geassocieerd met multipele arteriolaire en venulaire aneurysmata, afzettingen van lipiden, en intraretinale cystoïd degeneratie. Het leidt tot functieverlies van het zicht als gevolg van macula-oedeem met harde exsudaten."},"pt":{"name":"Telangiectasia idiopática macular, tipo 1"},"pl":{"name":"Idiopatyczna teleangiektazja plamki typu 1","synonyms":["Teleangiektazja tętniakowata","Wzrokowa i wysiękowa idiopatyczna teleangiektazja okołodołeczkowa siatkówki"],"definition":"*Idiopatyczna teleangiektazja plamki typu 1 jest rzadką, nabytą chorobą oczu, która charakteryzuje się nieprawidłowo rozszerzonymi i krętymi naczyniami włosowatymi wokół dołka środkowego po jednej lub obu stronach; towarzyszą mnogie tętniaki tętniczek i żył, złogi lipidowe i wewnątrzsiatkówkowe zwyrodnienie torbielowate. Prowadzi do utraty wzroku z powodu obrzęku plamki żółtej z nasilonym wysiękiem."},"cs":{"name":"Idiopatická makulární teleangiektázie, typ 1","synonyms":["Aneuryzmální telangiektázie","Viditelné a exudativní idiopatické juxtafoveolární teleangiektázie sítnice"]},"uk":{"name":"Ідіопатична макулярна телеангіектазія, тип 1","synonyms":["Аневризматична телеангіектазія","Видимий та ексудативний ідіопатичний юкстафовеолярний телеангіоектаз сітківки"],"definition":"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."},"zh":{"name":"特发性黄斑毛细血管扩张症1型","synonyms":["可见渗出性特发性近视网膜毛细血管扩张"],"definition":"特发性黄斑毛细血管扩张症1型是一种罕见的获得性眼病，其特征是单侧(很少双侧)中心凹周围异常扩张和扭曲的毛细血管，并伴有多发性动、静脉瘤、脂质沉积和视网膜内囊样变性。本病会引发黄斑水肿及硬性渗出物，导致视力丧失。"},"tr":{"name":"İdiyopatik maküler telenjiektazi tip 1","synonyms":["Anevrizmal telenjiektazi","Görünür ve eksudatif idiyopatik jukstafoveolar retinal telenjiektazi"]}},"xrefs":[{"source":"ICD-10","code":"H35.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B75.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1558331573"},{"source":"MONDO","code":"0018146","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751437","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":482092,"name":"Rare idiopathic macular telangiectasia","classifications":[181,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"22219035[PMID]_26028942[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"22219035[PMID]_26028942[PMID]_ORPHANET"}],"phenotypes":null}