{"orpha":580951,"name":"Punctate inner choroidopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-580951/","orphanet_url":"https://www.orpha.net/en/disease/detail/580951","names":{"fr":{"name":"Choroïdopathie interne ponctuée","definition":"Maladie ophtalmique rare caractérisée par des lésions choriorétiniennes généralement bilatérales, asymétriques, jaunâtres et ponctuées localisées au niveau du pôle postérieur, donnant lieu à des ramifications linéaires et à des cicatrices atrophiques. La présence d'une membrane néovasculaire sous-rétinienne est observée dans de nombreux cas, mais une hyalite n'est jamais observée. Les patients peuvent présenter les signes et symptômes suivants : vision trouble, scotome, corps flottants, photopsie et métamorphopsie. La formation d'une membrane néovasculaire choroïdienne et la présence d'une fibrose sous-rétinienne sont les causes principales de la perte de vision. La maladie touche principalement les femmes jeunes atteintes de myopie."},"de":{"name":"Punktförmige innere Choroidopathie","synonyms":["PIC"],"definition":"Eine seltene Augenerkrankung, die durch asymmetrische, gelbliche, punktförmige, meist bilaterale chorioretinale Läsionen am hinteren Pol gekennzeichnet ist, die ein lineares Verzweigungsmuster bilden und sich zu atrophischen Narben entwickeln. In vielen Fällen finden sich subretinale neovaskuläre Membranen. Eine Vitritis fehlt immer. Die Patienten können verschwommenes Sehen, Skotome, Floater, Photopsien und Metamorphopsien aufweisen. Die Bildung einer neovaskulären Aderhautmembran und eine subretinale Fibrose sind die Hauptursachen für den Sehverlust. Die Erkrankung tritt vor allem bei jungen, kurzsichtigen Frauen auf."},"es":{"name":"Coroidopatía punteada interna","synonyms":["Coroidopatía punctata interna"],"definition":"Es un trastorno oftálmico poco frecuente caracterizado por lesiones coriorretinianas punteadas, amarillentas, asimétricas, típicamente bilaterales, en el polo posterior, que forman un patrón de ramificación lineal y progresan a cicatrices atróficas. En muchos casos se producen membranas neovasculares subretinianas. La vitritis siempre está ausente. Los pacientes pueden presentar visión borrosa, escotoma, moscas volantes, fotopsia y metamorfopsia. La formación de membranas neovasculares coroideas y la fibrosis subretiniana son las principales causas de pérdida visual. La condición ocurre predominantemente en mujeres jóvenes con miopía."},"it":{"name":"Coroidopatia puntata interna","definition":"Si tratta di una malattia oculare rara, caratterizzata da lesioni corioretiniche puntate, di solito bilaterali, asimmetriche e giallastre, localizzate nel polo posteriore con distribuzione lineare ramificata, che progrediscono con la formazione di cicatrici atrofiche. Spesso si osservano membrane neovascolari sottoretiniche. La malattia non si associa mai alla vitrite. I pazienti possono presentare visione offuscata, scotoma, miodesopsie, fotopsia e metamorfopsia. La formazione di membrane neovascolari coroidee e la fibrosi sottoretinica sono le cause principali della compromissione della vista. La malattia colpisce prevalentemente le pazienti miopi di giovane età."},"nl":{"name":"Puntvormige interne choroïdopathie","definition":"Een zeldzame aandoening van oog, gekenmerkt door doorgaans bilaterale, asymmetrische, gelige, puntvormige chorioretinale laesies van de achterste pool die een lineair vertakkingspatroon vormen en evolueren naar atrofische littekens. In vele gevallen komen subretinale neovasculaire membranen voor. Vitritis is altijd afwezig. Patiënten presenteren zich mogelijk met troebel zicht, scotoom, glasvochttroebeling, fotopsie, en metamorfopsie. Vorming van choroïdale neovasculaire membraan en subretinale fibrose zijn de voornaamste oorzaken van verlies van gezichtsvermogen. De aandoening komt vooral voor bij jonge myopische vrouwen."},"pt":{"name":"Coroidopatia interna punctiforme","synonyms":["Coroidopatia interna punctata"],"definition":"Doença oftalmológica rara caracterizada por lesões coriorretinianas pontilhadas do pólo posterior tipicamente bilaterais, assimétricas, amareladas, formando um padrão de ramificação linear e progredindo para cicatrizes atróficas. Membranas neovasculares sub-retinianas ocorrem na maioria dos casos. Vitritis está sempre ausente. Os doentes podem apresentar visão turva, escotoma, moscas volantes, fotopsia e metamorfopsia. A formação da membrana neovascular coroidal e a fibrose sub-retiniana são as principais causas da perda visual. A condição ocorre predominantemente em mulheres jovens com miopia."},"pl":{"name":"Punktowa choroidopatia wewnętrzna"},"cs":{"name":"Punkční vnitřní choroidopatie"},"uk":{"name":"Точкова внутрішня хоріодопатія","definition":"A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females."},"zh":{"name":"点状内脉络膜病变"},"tr":{"name":"Noktalı iç koroidopatisi"}},"xrefs":[{"source":"ICD-10","code":"H31.0","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"9B65.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1322994548"},{"source":"MONDO","code":"0035584","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0730321","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7503","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":90061,"name":"Non-infectious posterior uveitis","classifications":[189]},{"orpha":716195,"name":"Rare inflammatory choroidal disorder","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}