{"Name":"Bilateral acute depigmentation of the iris","DiseaseID__c":"GARD:0018897","id":18897,"encodedName":"bilateral-acute-depigmentation-of-the-iris","IsDeleted":false,"Disease_Name_Full__c":"Bilateral acute depigmentation of the iris","Xref_IDs__c":"720460007; C4304058; MEDGEN:929727; MONDO:0019074; ORPHA:69736","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019074","Disease_Description__c":"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.","GARD_Name__c":"Bilateral acute depigmentation of the iris","GARD_Synonym__c":"acute bilateral depigmentation of iris; badi","Curated_Disease_Description_Source__c":"MONDO:0019074","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:69736","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019074","ORPHANET_ID__c":"ORPHA:69736","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Despigmentación aguda bilateral del iris","Spanish_Description_Source__c":"ORPHA:69736","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"despigmentación aguda bilateral del iris","Spanish_GARD_Synonym__c":"badi","Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0019074","GARD_Synonym__c":"acute bilateral depigmentation of iris; badi","Name":"Bilateral acute depigmentation of the iris","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:69736"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/69736","Source__c":"C4304058; MONDO:0019074; ORPHA:69736","Xref__c":"ORPHA:69736"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720460007","Source__c":"C4304058; MONDO:0019074","Xref__c":"720460007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929727","Source__c":"C4304058","Xref__c":"MEDGEN:929727"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304058","Source__c":"C4304058","Xref__c":"C4304058"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019074","Source__c":"GARD:0018897","Xref__c":"MONDO:0019074"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:69736","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200026","HPO_Synonym__c":"Eye pain","HPO_Name__c":"Ocular pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69736","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69736","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000593","HPO_Synonym__c":"Abnormality of the anterior chamber; Anterior chamber anomalies; Ocular anterior chamber abnormality","HPO_Name__c":"Abnormal anterior chamber morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69736","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002788","HPO_Synonym__c":"Frequent upper respiratory infections; Frequent upper respiratory tract infections; Recurrent colds; Recurrent upper respiratory and lower respiratory infections; Recurrent upper respiratory infection; Recurrent upper respiratory infections; Recurrent URI; Upper respiratory tract infections; Upper respiratory tract infections, recurrent","HPO_Name__c":"Recurrent upper respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69736","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the globe of the eye, or bulbus oculi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012372","HPO_Synonym__c":"Abnormal eye structure; Abnormality of the globe; Abnormally shaped eye","HPO_Name__c":"Abnormal eye morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69736","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011488","HPO_Synonym__c":"Abnormality of corneal endothelium","HPO_Name__c":"Abnormal corneal endothelium morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69736","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012634","HPO_Name__c":"Iris pigment dispersion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69736","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the stroma of iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007990","HPO_Synonym__c":"Hypoplastic iris stoma; Iris stromal hypoplasia; Underdeveloped iris stroma","HPO_Name__c":"Hypoplastic iris stroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69736","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of abnormal amounts of pigment within the trabecular meshwork.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012631","HPO_Name__c":"Pigment deposition in the trabecular meshwork","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69736","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Abnormal pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008034","HPO_Name__c":"Abnormal iris pigmentation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye"]},"synonyms":["acute bilateral depigmentation of iris"," badi"]}