{"orpha":69736,"name":"Bilateral acute depigmentation of the iris","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BADI"],"definition":"Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69736/","orphanet_url":"https://www.orpha.net/en/disease/detail/69736","names":{"fr":{"name":"Dépigmentation aiguë bilatérale des iris","synonyms":["BADI"],"definition":"La dépigmentation bilatérale aiguë de l'iris (BADI) se caractérise par l'apparition aiguë d'une dépigmentation bilatérale de l'iris, d'une dispersion des pigments dans la chambre antérieure et d'un dépôt important de pigments dans l'angle de la chambre antérieure. Les patients présentent typiquement une photophobie aiguë et généralement sévère, une vision floue, des yeux rouges et une gêne ou une douleur oculaire dont l'évolution clinique est généralement spontanément résolutive. Les cas surviennent souvent après une maladie grippale, une infection des voies respiratoires supérieures et après l'utilisation de moxifloxacine par voie orale. Dans le contexte d'une dépigmentation épithéliale de l'iris, des défauts de transillumination de l'iris et d'une pupille atonique/mydriatique, la maladie est appelée transillumination bilatérale aiguë de l'iris (BAIT) et s'accompagne d'un risque accru d'élévation sévère et persistante de la pression intraoculaire."},"de":{"name":"Irisdepigmentierung, akute bilaterale","synonyms":["BADI"],"definition":"Die bilaterale akute Depigmentierung der Iris (BADI) ist gekennzeichnet durch den akuten Beginn der bilateralen Depigmentierung der Iris, Pigmentdispersion in der Vorderkammer und schwerer Pigmentablagerung im Vorderkammerwinkel. Patienten weisen typischerweise eine akute und meist schwere Photophobie auf, verbunden mit verschwommenem Sehen, roten Augen und Augenbeschwerden oder Schmerzen mit zumeist selbstlimitierenden klinischen Verlauf. BADI tritt häufig nach einer grippeähnlichen Erkrankung, einer Infektion der oberen Atemwege und nach der Anwendung von oralem Moxifloxacin auf. Im Zusammenhang mit Irisepitheldepigmentierung, Iristransilluminationsdefekten und atonischer/mydriatischer Pupille wird die Erkrankung als bilaterale akute Iristransillumination (BAIT) bezeichnet, die mit einem erhöhten Risiko der schweren, hartnäckigen Erhöhung des Augeninnendrucks einhergeht."},"es":{"name":"Despigmentación aguda bilateral del iris","synonyms":["BADI"],"definition":"Enfermedad caracterizada por un inicio agudo de despigmentación bilateral del iris, dispersión del pigmento en la cámara anterior y una marcada deposición de pigmento en el ángulo de la cámara anterior. Típicamente, los afectados se presentan con fotofobia aguda y grave, visión borrosa, ojo rojo y malestar o dolor ocular con un curso clínico generalmente autolimitante. A menudo debuta después de una enfermedad similar a la gripe, infección del tracto respiratorio superior o después de la administración oral de moxifloxacino. Cuando se asocia a despigmentación epitelial del iris, defectos de transiluminación del iris y pupila atónica / midriática, la afección se denomina transiluminación aguda bilateral del iris (BAIT, por sus siglas en inglés) que cuenta con un mayor riesgo de aumento grave e intratable de la presión intraocular."},"it":{"name":"Depigmentazione bilaterale acuta dell'iride","definition":"La depigmentazione bilaterale acuta dell'iride (BADI) è caratterizzata da depigmentazione bilaterale dell'iride, dispersione del pigmento nella camera anteriore e significativi depositi di pigmento nell'angolo della camera anteriore; l'esordio è acuto. In genere i pazienti presentano fotofobia acuta, di solito grave, annebbiamento della vista, arrossamento degli occhi e fastidio o dolore oculare; il decorso clinico in genere è autolimitante. Spesso la malattia esordisce dopo una malattia influenzale, un'infezione delle vie aeree superiori o l'assunzione di moxifloxacina per via orale. Quando si associa a depigmentazione dell'epitelio dell'iride, a difetti della transilluminazione dell'iride e a pupilla atonica/midriatica, la malattia viene definita transilluminazione acuta bilaterale dell'iride (BAIT) e una condizione a rischio per un aumento importante e non trattabile della pressione intraoculare."},"nl":{"name":"Bilaterale acute irisdepigmentatie","synonyms":["BADI"],"definition":"Bilaterale acute depigmentatie van de iris (BADI) wordt gekarakteriseerd door acute aanvang van bilaterale irisdepigmentatie, pigmentdispersie in de voorste oogkamer, en uitgesproken afzetting van pigment in de hoek van de voorste oogkamer. Patiënten vertonen doorgaans acute en meestal ernstige fotofobie, wazig zicht, rode ogen, en ongemak of pijn aan de ogen met meestal een zelflimiterend klinisch verloop. Vaak komen gevallen voor na een griepachtige ziekte, een infectie van de bovenste luchtwegen, en na oraal gebruik van moxifloxacine. Wanneer ze geassocieerd is met depigmentatie van het irisepitheel, transilluminatiedefecten van de iris en een atonische/mydriatische pupil, wordt naar de aandoening verwezen als bilaterale acute transilluminatie van de iris (BAIT), waarbij er een verhoogd risico is op een ernstige, onbehandelbare toename van de inwendige oogdruk."},"pt":{"name":"Despigmentação aguda bilateral da íris"},"pl":{"name":"Ostre obustronne odbarwienie tęczówki","synonyms":["BADI"]},"cs":{"name":"Akutní bilaterální depigmentace duhovky","synonyms":["BADI"]},"uk":{"name":"Двостороння гостра депігментація райдужної оболонки","synonyms":["BADI"],"definition":"Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure."},"zh":{"name":"急性双侧虹膜色素脱失","synonyms":["BADI"]},"tr":{"name":"İrisin iki taraflı akut depigmentasyonu","synonyms":["BADI"]}},"xrefs":[{"source":"ICD-10","code":"Q13.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A90.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1615582153"},{"source":"MONDO","code":"0019074","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304058","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98634,"name":"Anterior segment developmental anomaly without extraocular manifestations","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":62.0,"area":"Worldwide","status":"Validated","source":"23812527[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23812527[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-08-03","source":"21531477[PMID]_27224078[PMID]","terms":[{"hpo":"HP:0008034","label":"Abnormal iris pigmentation","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007990","label":"Hypoplastic iris stroma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000593","label":"Abnormal anterior chamber morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011488","label":"Abnormal corneal endothelium morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012372","label":"Abnormal eye morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012634","label":"Iris pigment dispersion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012631","label":"Pigment deposition in the trabecular meshwork","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null}]}}