{"orpha":179,"name":"Birdshot chorioretinopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Birdshot chorioretinitis","Birdshot retinochoroiditis","Birdshot retinochoroidopathy","Vitiliginous choroiditis"],"definition":"Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-179/","orphanet_url":"https://www.orpha.net/en/disease/detail/179","names":{"fr":{"name":"Choriorétinopathie type birdshot","synonyms":["Choriorétinite type birdshot","Rétinochoroïdite type birdshot","Rétinochoroïdopathie type birdshot"],"definition":"Uvéite postérieure caractérisée par de multiples lésions choroïdiennes hypopigmentées de couleur crème dans le fond d'oeil, fortement associée à la présence de l'antigène HLA-A29. Les signes cliniques sont une vision trouble, la présence de corps flottants, une photopsie, des scotomes et une héméralopie."},"de":{"name":"Chorioretinopathie Typ Birdshot","synonyms":["Birdshot-Chorioretinopathie","Birdshot-Retinochoroidopathie"],"definition":"Die Birdshot (Schrotschuß)-Chorioretinopathie ist eine hintere Uveitis, die durch mehrere cremefarbene, hypopigmentierte choroidale Läsionen im Augenhintergrund gekennzeichnet ist und in engem Zusammenhang mit dem Antigen HLA-A29 steht. Klinisch äußert sie sich durch verschwommenes Sehen, Flimmern, Photopsie, Skotome und Nyktalopie."},"es":{"name":"Coriorretinopatía \"birdshot\"","synonyms":["Coriorretinitis \"birdshot\"","Coriorretinopatía en perdigonada","Coroiditis vitiliginosa","Retinocoroiditis \"birdshot\"","Retinocoroidopatía \"birdshot\""],"definition":"La coriorretinopatía ''birdshot'' o en perdigonada es una uveítis posterior caracterizada por múltiples lesiones coroideas hipopigmentadas de color crema en el fondo de ojo y una fuerte asociación con HLA-A29 que se presenta clínicamente con visión borrosa, miodesopsias, fotopsias, escotoma y nictalopía."},"it":{"name":"Corioretinopatia \"birdshot\"","synonyms":["Corioretinite ''birdshot''","Coroidite vitiliginosa","Retinocoroidite ''birdshot''","Retinocoroidopatia ''birdshot''"]},"nl":{"name":"Chorioretinopathie, Birdshot-type","synonyms":["Birdshot chorioretinitis","Birdshot retinochoroïditis","Birdshot retinochoroïdopathie","Vitiligineuze choroïditis"],"definition":"Een posterieure uveïtis, gekenmerkt door meervoudige crèmekleurige, hypogepigmenteerde choroïdale laesies in fundus en sterke associatie met HLA-A29, en met wazig zicht, myodesopsie (glasvochttroebeling), fotopsie, scotoom en nyctalopie als klinische presentatie."},"pt":{"name":"Corio-retinopatia \"birdshot\"","synonyms":["Corioretinite \"birdshot\"","Coroidite vitiliginosa","Retinocoroidite \"birdshot\"","Retinocoroidopatia \"birdshot\""]},"pl":{"name":"Chororetinopatia typu birdshot (kuli małego kalibru)","synonyms":["Retinochoroidopatia typu birdshot","Vitiligo/bielactwo naczyniówki","Zapalenie siatkówki i naczyniówki typu birdshot"]},"cs":{"name":"Birdshot chorioretinopatie","synonyms":["Birdshot chorioretinitida","Birdshot retinochoroiditida","Birdshot retinochoroidopatie","Vitiliginní choroiditida"]},"uk":{"name":"Дробоподібна хоріоретинопатія","synonyms":["Пташиний хоріоретиніт","Пташиний ретинохороїдит","Пташина ретинохороїдопатія","Вітілігінозний хоріоїдит"],"definition":"Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia."},"zh":{"name":"鸟枪弹样脉络膜视网膜病变","synonyms":["鸟枪弹样视网膜脉络膜病变"]},"tr":{"name":"Birdshot korioretinopati","synonyms":["Birdshot korioretinit","Vitiliginöz koroidit","Birdshot retinokoroidit","Birdshot retinokoroidopati"]}},"xrefs":[{"source":"OMIM","code":"605808","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H30.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B65.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1954035043"},{"source":"MONDO","code":"0011599","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000080365","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853959","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5926","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072959","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":[{"symbol":"HLA-A","name":"major histocompatibility complex, class I, A","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24474930[PMID]","hgnc":"4931","ensembl":"ENSG00000206503","omim":"142800","loci":["6p22.1"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"Worldwide","status":"Validated","source":"27175923[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"United States","status":"Validated","source":"16263368[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-12","source":"27847627[PMID]","terms":[{"hpo":"HP:0000610","label":"Abnormal choroid morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000532","label":"Chorioretinal abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011505","label":"Cystoid macular edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030609","label":"Photoreceptor layer loss on macular OCT","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011531","label":"Vitritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007843","label":"Attenuation of retinal blood vessels","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:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100014","label":"Epiretinal membrane","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100533","label":"Inflammatory abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011508","label":"Macular hole","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200056","label":"Macular scar","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030329","label":"Retinal thinning","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100832","label":"Vitreous floaters","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030530","label":"Arcuate scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011506","label":"Choroidal neovascularization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null}]}}