{"orpha":284454,"name":"Acute zonal occult outer retinopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AZOOR"],"definition":"A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal pigment epithelial disturbances tend to develop over time. Individuals also often complain of distortion of central vision, photophobia and difficulty with night vision, with more advanced cases reporting loss of peripheral vision.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284454/","orphanet_url":"https://www.orpha.net/en/disease/detail/284454","names":{"fr":{"name":"Rétinopathie occulte externe zonale aiguë","synonyms":["AZOOR"],"definition":"Maladie rétinienne acquise rare, caractérisée par une dégénérescence focale séquentielle des photorécepteurs, de l'épithélium pigmentaire de la rétine et de la choroïde, la majorité des patients manifestent une photopsie d'apparition soudaine et des scotomes aigus. Bien que les patients conservent généralement une acuité visuelle correcte, l'élargissement de la tache aveugle et les troubles de l'épithélium pigmentaire de la rétine ont tendance à se développer avec le temps. Les personnes se plaignent fréquemment d'une distorsion de la vision centrale, d'une photophobie et des troubles de la vision nocturne, une perte de la vision périphérique ayant été rapportée dans des cas plus avancés."},"de":{"name":"Retinopathie, akute äußere okkulte zonale","synonyms":["AZOOR"],"definition":"Eine seltene erworbene Netzhauterkrankung, die durch eine sequenzielle fokale Degeneration der Photorezeptoren, des retinalen Pigmentepithels und der Aderhaut gekennzeichnet ist und bei der die meisten Patienten eine plötzlich auftretende Photopsie und akute Skotome aufweisen. Obwohl die Patienten in der Regel eine gute Sehschärfe behalten, kommt es im Laufe der Zeit zu einer Vergrößerung des blinden Flecks und zu Störungen des retinalen Pigmentepithels. Die Betroffenen klagen auch häufig über eine Verzerrung des zentralen Sehens, Photophobie und Schwierigkeiten beim Nachtsehen, wobei in fortgeschrittenen Fällen auch ein Verlust des peripheren Sehens berichtet wird."},"es":{"name":"Retinopatía aguda zonal oculta externa","synonyms":["AZOOR"],"definition":"Es un trastorno de la retina, adquirido y poco frecuente, que se caracteriza por una degeneración focal secuencial de los fotorreceptores, del epitelio pigmentario de la retina y de la coroides, con fotopsia de inicio repentino y escotomas agudos en la mayoría de los casos. Aunque los pacientes suelen conservar una agudeza visual aceptable, con el tiempo suele producirse un agrandamiento del punto ciego y alteraciones del epitelio pigmentario de la retina. Los pacientes también refieren con frecuencia una distorsión de la visión central, fotofobia y dificultad con la visión nocturna y, en los casos más avanzados, pérdida de la visión periférica."},"it":{"name":"Retinopatia acuta occulta periferica","synonyms":["AZOOR"],"definition":"Si tratta di una retinopatia acquisita rara, caratterizzata da una degenerazione focale sequenziale dei fotorecettori, dell'epitelio pigmentato della retina e della coroide. La maggior parte dei pazienti presenta fotopsia ad esordio improvviso e scotomi acuti. In genere i pazienti conservano una discreta acuità visiva, ma nel tempo tendono a sviluppare un ampliamento del punto cieco e alterazioni dell'epitelio pigmentato. Inoltre, spesso i pazienti lamentano una distorsione della visione centrale, fotofobia e alterazioni della visione notturna. Nei casi più gravi, la malattia si associa alla perdita della visione periferica."},"nl":{"name":"Acute zonale occulte perifere retinopathie","synonyms":["AZOOR"],"definition":"Een zeldzame, verworven aandoening van retina, gekarakteriseerd door sequentiële focale degeneratie van fotoreceptoren, retinaal pigmentepitheel en vaatvlies, waarbij de meerderheid van de patiënten plotse optredende fotopsie en acuut scotoom ervaren. Hoewel patiënten doorgaans aanvaardbare visus behouden, ontwikkelen mettertijd vergroting van blinde vlek en stoornissen van retinaal pigmentepitheel. Individuen klagen ook vaak over verstoord centraal gezichtsveld, fotofobie en problemen met nachtzicht, en verder gevorderde gevallen melden verlies van perifeer zicht."},"pt":{"name":"Retinopatia oculta externa zonal aguda"},"pl":{"name":"Ostra zewnętrzna utajona retinopatia strefowa","synonyms":["AZOOR"]},"cs":{"name":"Akutní zonální okultní zevní retinopatie","synonyms":["AZOOR"]},"uk":{"name":"Гостра зональна прихована зовнішня ретинопатія","synonyms":["AZOOR"],"definition":"A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal pigment epithelial disturbances tend to develop over time. Individuals also often complain of distortion of central vision, photophobia and difficulty with night vision, with more advanced cases reporting loss of peripheral vision."},"zh":{"name":"急性带状隐匿性外视网膜病变","synonyms":["AZOOR"],"definition":"一种罕见的获得性视网膜病，其特征是光感受器、视网膜色素上皮和脉络膜相继发生局灶性变性，大多数患者出现突发性闪光感和暗点。虽然患者通常能保持良好的视力，但随着时间的推移，盲点扩大和视网膜色素上皮细胞紊乱逐渐进展。病人常诉中心视野变形，畏光和夜视困难，更多晚期病例报告周边视野丧失。"},"tr":{"name":"Akut zonal gizli dış retinopati","synonyms":["AZOOR"]}},"xrefs":[{"source":"ICD-10","code":"H35.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B65.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2011657601"},{"source":"MONDO","code":"0017298","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0730298","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8640","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":730376,"name":"Rare acquired isolated progressive generalized retinal disorder","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"21056448[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-31","source":"30578522[PMID]_30042791[PMID]_32796345[PMID]_21056448[PMID]_29572353[PMID]","terms":[{"hpo":"HP:0030604","label":"Abnormal fundus fluorescein angiography","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030644","label":"Blind-spot enlargment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001133","label":"Constriction of peripheral visual field","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200057","label":"Marcus Gunn pupil","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030786","label":"Photopsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000575","label":"Scotoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012377","label":"Hemianopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007722","label":"Retinal pigment epithelial atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007814","label":"Retinal pigment epithelial mottling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030662","label":"Vitreous inflammatory cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011531","label":"Vitritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000610","label":"Abnormal choroid morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030499","label":"Macular drusen","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very rare (<4-1%)","criteria":null}]}}