{"orpha":97341,"name":"Persistent placoid maculopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97341/","orphanet_url":"https://www.orpha.net/en/disease/detail/97341","names":{"fr":{"name":"Maculopathie placoïde persistante","definition":"La maculopathie placoïde persistante est caractérisée par la présence de plaques blanches au niveau de la macula rétinienne qui s'étendent aux zones pré-papillaires des deux yeux. Elle a été décrite chez cinq patients. Contrairement aux patients atteints de choroïdite serpigineuse présentant ce type de lésions, ces cinq patients avaient une bonne vision jusqu'à l'apparition de complications associées à une néovascularisation de la choroïde ou à une pigmentation marbrée. Les lésions maculaires s'estompent en quelques mois ou quelques années mais les anomalies vasculaires persistent, menant à une perte de la vision centrale."},"de":{"name":"Makulopathie, persistierende plakoide","definition":"Dieses Syndrom ist gekennzeichnet durch weiße fleckförmige Läsionen der Makula in beiden Augen mit Aussparung der peripapillären Region. Es wurde bei 5 Patienten beschrieben. Im Gegensatz zu den Patienten mit serpiginöser Makula-Chorioiditis, die ähnliche Läsionen aufweisen, hatten die 5 Patienten mit Persistierender plakoider Makulopathie bis zum Auftreten einer choroidalen Gefäßneubildung (CNV) oder einer gesprenkelten Pigmentierung eine gute Sehkraft. Die Makulaläsionen klingen nach mehreren Monaten oder Jahren ab, die Gefäßveränderungen bestehen aber weiter und führen zum Verlust des zentralen Sehens."},"es":{"name":"Maculopatía placoidea persistente","definition":"Es un trastorno caracterizado por lesiones blancas similares a placas que afectan a la mácula respetando las áreas peripapilares de ambos ojos. Se ha descrito en cinco pacientes. En contraste con los pacientes con coroiditis serpiginosa macular, que presentan lesiones similares, los cinco pacientes con maculopatía placoide persistente descritos hasta la fecha tenían buena agudeza visual hasta el inicio de la neovascularización coroidea (NVC) o del moteado pigmentario. Las lesiones maculares desaparecen después de varios meses o años, pero las anomalías vasculares persisten y conducen a una pérdida de la visión central. 01/09/2007"},"it":{"name":"Maculopatia placoide persistente"},"nl":{"name":"Persisterende placoïde maculopathie","definition":"Persisterende placoïde maculopathie wordt gekenmerkt door witte, op plaques gelijkende laesies, waarbij macula van beide ogen wordt aangetast maar peripapillaire gebieden gespaard blijven. De aandoening werd beschreven bij vijf patiënten. In tegenstelling tot patiënten met serpigineuze choroïditis van macula die zich met gelijkaardige laesies presenteren, hebben de vijf patiënten met persisterende placoïde maculopathie die tot op heden werden gerapporteerd goede gezichtsscherpte tot wanneer choroïdale neovascularisatie (CNV) of pigmentvlekken optreden. De maculaire laesies vervagen na enkele maanden of jaren, maar de vasculaire anomalieën houden aan en leiden tot verlies van centraal zicht."},"pt":{"name":"Maculopatia placóide persistente"},"pl":{"name":"Przewlekła makulopatia plakoidalna"},"cs":{"name":"Perzistentní plakoidní makulopatie"},"uk":{"name":"Персистуюча плакоїдна макулопатія","definition":"Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision."},"zh":{"name":"持续性鳞状黄斑病变","definition":"持续性的片状黄斑病变的特点是累及黄斑的白色斑块样病变，但不涉及双眼的乳头周围区域，已在五名患者中报道。与表现为类似病变的黄斑丝状脉络膜炎患者相比，迄今报道的5例持续性片状黄斑病变患者在出现脉络膜新生血管(CNV)或色素斑驳之前视力良好。黄斑病变在几个月或几年后消失，但血管异常持续存在，导致中心视力丧失。"},"tr":{"name":"Kalıcı plakoid makülopati"}},"xrefs":[{"source":"ICD-10","code":"H35.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B78.3Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1143591468"},{"source":"MONDO","code":"0019973","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304823","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":716432,"name":"Rare isolated progressive predominantly macular disorder","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"17471331[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-06","source":"17471331[PMID]","terms":[{"hpo":"HP:0011506","label":"Choroidal neovascularization","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001103","label":"Abnormal macular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007750","label":"Hypoplasia of the fovea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012508","label":"Metamorphopsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007814","label":"Retinal pigment epithelial mottling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010822","label":"Scintillating scotoma","frequency":"Occasional (29-5%)","criteria":null}]}}