{"Name":"Birdshot chorioretinopathy","DiseaseID__c":"GARD:0005926","id":5926,"encodedName":"birdshot-chorioretinopathy","IsDeleted":false,"Disease_Name_Full__c":"Birdshot chorioretinopathy","Xref_IDs__c":"231981005; C1853959; C537630; D000080365; DOID:0111079; MEDGEN:340098; MONDO:0011599; OMIM:605808; ORPHA:179","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011599","Disease_Description__c":"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.","GARD_Name__c":"Birdshot chorioretinopathy","GARD_Synonym__c":"birdshot chorioretinitis; birdshot choroidal lesions; birdshot laesions; birdshot lesions; birdshot retinochoroiditis; birdshot retinochoroidopathy; bscr; vitiliginous chorioretinitis; vitiliginous choroiditis","Curated_Disease_Description_Source__c":"GARD:0005926","Curated_Disease_Description__c":"Birdshot chorioretinopathy is an eye condition in which painless, light-colored spots develop on the retina. These spots are scattered in a \"birdshot\" pattern. The effects of this condition on vision are quite variable; some individuals' vision is only mildly affected, whereas others experience a significant decline in vision, the appearance of floaters (small specks that appear in one's line of sight), night blindness, and other vision problems. The cause of Birdshot chorioretinopathy is currently unknown, but it is suspected to be an autoimmune disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:179","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011599","ORPHANET_ID__c":"ORPHA:179","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Coriorretinopatía \"birdshot\"","Spanish_Description_Source__c":"ORPHA:179","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"coriorretinopatía \"birdshot\"","Spanish_GARD_Synonym__c":"coriorretinitis \"birdshot\"; coriorretinopatía en perdigonada; coroiditis vitiliginosa; retinocoroiditis \"birdshot\"; retinocoroidopatía \"birdshot\"","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":"Birdshot chorioretinopathy is an eye condition in which painless, light-colored spots develop on the retina. These spots are scattered in a \"birdshot\" pattern. The effects of this condition on vision are quite variable; some individuals' vision is only mildly affected, whereas others experience a significant decline in vision, the appearance of floaters (small specks that appear in one's line of sight), night blindness, and other vision problems. The cause of Birdshot chorioretinopathy is currently unknown, but it is suspected to be an autoimmune disease.","Curated_Disease_Description_Source__c":"GARD:0005926","GARD_Synonym__c":"birdshot chorioretinitis; birdshot choroidal lesions; birdshot laesions; birdshot lesions; birdshot retinochoroiditis; birdshot retinochoroidopathy; bscr; vitiliginous chorioretinitis; vitiliginous choroiditis","Name":"Birdshot chorioretinopathy","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"Birdshot Uveitis Society of North America","Website__c":"https://www.busna.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:179"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:179"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1853959"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005926","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340098","Source__c":"C1853959","Xref__c":"MEDGEN:340098"},{"URL__c":"https://www.omim.org/entry/605808","Source__c":"C1853959; MONDO:0011599; ORPHA:179","Xref__c":"OMIM:605808"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537630","Source__c":"MONDO:0011599","Xref__c":"C537630"},{"URL__c":"https://www.orpha.net/en/disease/detail/179","Source__c":"C1853959; MONDO:0011599; ORPHA:179","Xref__c":"ORPHA:179"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853959","Source__c":"C1853959","Xref__c":"C1853959"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111079","Source__c":"MONDO:0011599","Xref__c":"DOID:0111079"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=231981005","Source__c":"C1853959; MONDO:0011599","Xref__c":"231981005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000080365","Source__c":"C1853959","Xref__c":"D000080365"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011599","Source__c":"GARD:0005926","Xref__c":"MONDO:0011599"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030952","Source__c":"C1853959","Xref__c":"HP:0030952"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:179","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030609","HPO_Name__c":"Photoreceptor layer loss on macular OCT","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A macular hole is a full thickness gap in the macula, located in the center of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011508","HPO_Name__c":"Macular hole","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:179","HPO_Frequency__c":"Frequent (30-79%)","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:179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fibrous connective tissue consequent upon healing of a wound (i.e., a scar) located in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200056","HPO_Synonym__c":"Macular scarring","HPO_Name__c":"Macular scar","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:179","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:179","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:179","HPO_Frequency__c":"Very frequent (80-99%)","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:179","HPO_Frequency__c":"Frequent (30-79%)","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:179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:179","HPO_Frequency__c":"Frequent (30-79%)","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:179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030329","HPO_Synonym__c":"Retinal thinning","HPO_Name__c":"Retinal thinning on OCT","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:179","HPO_Frequency__c":"Very frequent (80-99%)","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:179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the eye, parts of the eye or the periorbital region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100533","HPO_Synonym__c":"Inflammatory abnormality of the eye; Ocular inflammation","HPO_Name__c":"Inflammatory abnormality of the eye","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:179","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011505","HPO_Synonym__c":"Cystoid macular edema","HPO_Name__c":"Cystoid macular edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:179","HPO_Frequency__c":"Very frequent (80-99%)","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:179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030530","HPO_Name__c":"Arcuate scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:179","HPO_Frequency__c":"Very frequent (80-99%)","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:179","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the choroid and retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000532","HPO_Synonym__c":"Chorioretinal abnormality","HPO_Name__c":"Abnormal chorioretinal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Narrowing of the retinal blood vessels, both arterioles and venules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007843","HPO_Synonym__c":"Narrowing of blood vessels in back of eye","HPO_Name__c":"Attenuation of retinal blood vessels","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:179","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:179","HPO_Frequency__c":"Very frequent (80-99%)","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:179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011506","HPO_Synonym__c":"Choroidal neovascular membrane","HPO_Name__c":"Choroidal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:179","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"}}],"tags":{"Specialist":["Ophthalmology"]},"synonyms":["birdshot chorioretinitis"," birdshot choroidal lesions"," birdshot laesions"," birdshot lesions"," birdshot retinochoroiditis"," birdshot retinochoroidopathy"," bscr"," vitiliginous chorioretinitis"," vitiliginous choroiditis"]}