{"Name":"Fuchs heterochromic iridocyclitis","DiseaseID__c":"GARD:0006791","id":6791,"encodedName":"fuchs-heterochromic-iridocyclitis","IsDeleted":false,"Disease_Name_Full__c":"Fuchs heterochromic iridocyclitis","Xref_IDs__c":"11226001; C0016782; DOID:9375; H20.81; MEDGEN:507742; MONDO:0016989; ORPHA:263479","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016989","Disease_Description__c":"Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.","GARD_Name__c":"Fuchs heterochromic iridocyclitis","GARD_Synonym__c":"fhi; fuch's heterochromic iridocyclitis; fuchs heterochromic cyclitis; fuchs heterochromic uveitis; fuchs uveitis syndrome; fuchs' heterochromic cyclitis; fuchs' heterochromic iridocyclitis; fuchs' heterochromic uveitis","Curated_Disease_Description_Source__c":"GARD:0006791","Curated_Disease_Description__c":"Fuchs heterochromic iridocyclitis (FHI) is an unusual form of chronic (long-lasting) uveitis. Uveitis is swelling and irritation of the middle layer of the eye. Diagnosis of FHI is considered in people with floaters, vision loss, and heterochromia. FHI often affects young adults and most often involves a single eye. People with FHI are at risk for cataract, glaucoma, and vitreous opacity (clouding of the jelly-like substance in the eyeball). The cause of FHI is not known.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:263479","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016989","ORPHANET_ID__c":"ORPHA:263479","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Iridociclitis heterocrómica de fuchs","Spanish_Description_Source__c":"ORPHA:263479","Spanish_Description__c":"La iridociclitis heterocrómica de Fuchs (FHI) es una enfermedad ocular de etiología desconocida que ocurre en un porcentaje muy pequeño (0,5-6,2%) de los casos de uveítis; se caracteriza por una heterocromía o atrofia difusa del iris, precipitados queráticos en ausencia de sinequias y, en algunos casos, evoluciona a un glaucoma y opacidades vítreas.","Spanish_Disease_Name__c":"iridociclitis heterocrómica de fuchs","Spanish_GARD_Synonym__c":null,"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":"Fuchs heterochromic iridocyclitis (FHI) is an unusual form of chronic (long-lasting) uveitis. Uveitis is swelling and irritation of the middle layer of the eye. Diagnosis of FHI is considered in people with floaters, vision loss, and heterochromia. FHI often affects young adults and most often involves a single eye. People with FHI are at risk for cataract, glaucoma, and vitreous opacity (clouding of the jelly-like substance in the eyeball). The cause of FHI is not known.","Curated_Disease_Description_Source__c":"GARD:0006791","GARD_Synonym__c":"fhi; fuch's heterochromic iridocyclitis; fuchs heterochromic cyclitis; fuchs heterochromic uveitis; fuchs uveitis syndrome; fuchs' heterochromic cyclitis; fuchs' heterochromic iridocyclitis; fuchs' heterochromic uveitis","Name":"Fuchs heterochromic iridocyclitis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Ocular Immunology and Uveitis Foundation","Website__c":"https://uveitis.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:263479"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0016782","Source__c":"C0016782","Xref__c":"C0016782"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=507742","Source__c":"C0016782","Xref__c":"MEDGEN:507742"},{"URL__c":"https://www.orpha.net/en/disease/detail/263479","Source__c":"C0016782; MONDO:0016989; ORPHA:263479","Xref__c":"ORPHA:263479"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9375","Source__c":"MONDO:0016989","Xref__c":"DOID:9375"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=11226001","Source__c":"C0016782; MONDO:0016989","Xref__c":"11226001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016989","Source__c":"GARD:0006791","Xref__c":"MONDO:0016989"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/H20.81","Source__c":"MONDO:0016989","Xref__c":"H20.81"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025337","HPO_Synonym__c":"Red eye; Red eyes","HPO_Name__c":"Red eye","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009916","HPO_Synonym__c":"Asymmetric pupil sizes; Asymmetry of the pupils; Unequal pupil dilatation; Unequal pupil size","HPO_Name__c":"Anisocoria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","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:263479","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007777","HPO_Name__c":"Chorioretinal scar","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100014","HPO_Synonym__c":"Cellophane maculopathy; Macular pucker; Premacular fibrosis; Surface wrinkling retinopathy","HPO_Name__c":"Epiretinal membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A hole through the whole thickness of the retina, associated with trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011958","HPO_Synonym__c":"Retinal tear; Torn retina","HPO_Name__c":"Retinal perforation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000543","HPO_Synonym__c":"Pale optic disc","HPO_Name__c":"Optic disc pallor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","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:263479","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001085","HPO_Name__c":"Papilledema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of iris tissue (atrophy)","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001089","HPO_Synonym__c":"Iris degeneration","HPO_Name__c":"Iris atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030554","HPO_Name__c":"Best corrected visual acuity 0.1 LogMAR","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030534","HPO_Name__c":"Abnormal best corrected visual acuity test","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100832","HPO_Synonym__c":"Eye floaters; Flitting flies; Mouches volantes; Myodeopsia; Myodesopsia; Spots in front of eyes; Vitreous condensations; Vitreous debris; Vitreous opacities; Vitreous veils","HPO_Name__c":"Vitreous floaters","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Occasional (5-29%)","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:263479","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Adhesions between the iris and the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011484","HPO_Synonym__c":"Iridolenticular adhesions; Posterior synechiae","HPO_Name__c":"Posterior synechiae of the anterior chamber","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031701","HPO_Name__c":"Anterior chamber inflammatory cells","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Occasional (5-29%)","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:263479","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Intraocular pressure that is 2 standard deviations above the population mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007906","HPO_Synonym__c":"Elevated intraocular pressure; Elevated IOP; High eye pressure; Increased intraocular pressure; Increased IOP; Raised intraocular pressure; Raised IOP","HPO_Name__c":"Ocular hypertension","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025341","HPO_Name__c":"Corneal keratic precipitates","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of iris nodule consisting of inflammatory cell precipitates which lie at the pupillary margin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034820","HPO_Synonym__c":"Koeppe iris nodules; Koeppe's nodules","HPO_Name__c":"Koeppe nodules","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263479","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of iris nodule consisting of inflammatory cell precipitates which lie on the iris surface.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034821","HPO_Name__c":"Bussaca nodules","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Ophthalmology"]},"synonyms":["fhi"," fuch's heterochromic iridocyclitis"," fuchs heterochromic cyclitis"," fuchs heterochromic uveitis"," fuchs uveitis syndrome"," fuchs' heterochromic cyclitis"," fuchs' heterochromic iridocyclitis"," fuchs' heterochromic uveitis"]}