{"Name":"Acute zonal occult outer retinopathy","DiseaseID__c":"GARD:0008640","id":8640,"encodedName":"acute-zonal-occult-outer-retinopathy","IsDeleted":false,"Disease_Name_Full__c":"Acute zonal occult outer retinopathy","Xref_IDs__c":"312929003; C0730298; C538223; MEDGEN:196452; MONDO:0017298; ORPHA:284454","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017298","Disease_Description__c":"Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.","GARD_Name__c":"Acute zonal occult outer retinopathy","GARD_Synonym__c":"aaoor - acute annular occult outer retinopathy; acute annular occult outer retinopathy; acute local occult outer retinopathy; azoor; azoor - acute zonal occult outer retinopathy","Curated_Disease_Description_Source__c":"GARD:0008640","Curated_Disease_Description__c":"Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. Other symptoms may include \"whitening of vision\" or blurred vision. The underlying cause of AZOOR is currently unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:284454","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017298","ORPHANET_ID__c":"ORPHA:284454","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Retinopatía aguda zonal oculta externa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"retinopatía aguda zonal oculta externa","Spanish_GARD_Synonym__c":"azoor","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":"Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. Other symptoms may include \"whitening of vision\" or blurred vision. The underlying cause of AZOOR is currently unknown.","Curated_Disease_Description_Source__c":"GARD:0008640","GARD_Synonym__c":"aaoor - acute annular occult outer retinopathy; acute annular occult outer retinopathy; acute local occult outer retinopathy; azoor; azoor - acute zonal occult outer retinopathy","Name":"Acute zonal occult outer retinopathy","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:284454"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:284454"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=196452","Source__c":"C0730298","Xref__c":"MEDGEN:196452"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=312929003","Source__c":"C0730298; MONDO:0017298","Xref__c":"312929003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538223","Source__c":"MONDO:0017298","Xref__c":"C538223"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0730298","Source__c":"C0730298","Xref__c":"C0730298"},{"URL__c":"https://www.orpha.net/en/disease/detail/284454","Source__c":"C0730298; MONDO:0017298; ORPHA:284454","Xref__c":"ORPHA:284454"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017298","Source__c":"GARD:0008640","Xref__c":"MONDO:0017298"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011531","HPO_Synonym__c":"Hyalitis; Vitreitis","HPO_Name__c":"Vitritis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Drusen localted in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030499","HPO_Name__c":"Macular drusen","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030604","HPO_Name__c":"Abnormal fundus fluorescein angiography","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Partial or complete loss of vision in one half of the visual field of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012377","HPO_Synonym__c":"Hemianopsia","HPO_Name__c":"Hemianopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000539","HPO_Name__c":"Abnormality of refraction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000610","HPO_Synonym__c":"Abnormality of the choroid","HPO_Name__c":"Abnormal choroid morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An area of depressed vision located at the point of fixation and that interferes with central vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000603","HPO_Synonym__c":"Central blind spot; Central scotomata","HPO_Name__c":"Central scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030644","HPO_Synonym__c":"Blind spot enlargement","HPO_Name__c":"Blind-spot enlargement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200057","HPO_Synonym__c":"Relative afferent pupil defect; Relative afferent pupillary defect","HPO_Name__c":"Marcus Gunn pupil","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007722","HPO_Name__c":"Retinal pigment epithelial atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007814","HPO_Synonym__c":"Focal hypopigmentation of the retinal pigment epithelium; Retinal pigment epithelium irregularity; RPE irregularity; RPE mottling; Salt and pepper retinal pigmentation; Salt and pepper retinopathy","HPO_Name__c":"Retinal pigment epithelial mottling","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000510","HPO_Synonym__c":"Retinitis pigmentosa; Rod cone dystrophy","HPO_Name__c":"Rod-cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001133","HPO_Synonym__c":"Concentric narrowing of visual field; Constricted visual field; Constricted visual fields; Limited peripheral vision; Reduced peripheral vision; Visual field constriction","HPO_Name__c":"Constriction of peripheral visual field","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000575","HPO_Name__c":"Scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000512","HPO_Synonym__c":"Abnormal electroretinography; Abnormal ERG; ERG abnormal","HPO_Name__c":"Abnormal electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000580","HPO_Synonym__c":"Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration","HPO_Name__c":"Pigmentary retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Perceived flashes of light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030786","HPO_Name__c":"Photopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001123","HPO_Synonym__c":"Partial loss of field of vision; Visual field defects","HPO_Name__c":"Visual field defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A structural abnormality of retinal vasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008046","HPO_Synonym__c":"Abnormality of retina blood vessels; Abnormality of the retinal vasculature","HPO_Name__c":"Abnormal retinal vascular morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of sharpness of vision resulting in the inability to see fine detail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000622","HPO_Synonym__c":"Blurred vision","HPO_Name__c":"Blurred vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284454","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030662","HPO_Name__c":"Vitreous inflammatory cells","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["aaoor - acute annular occult outer retinopathy"," acute annular occult outer retinopathy"," acute local occult outer retinopathy"," azoor"," azoor - acute zonal occult outer retinopathy"]}