{"Name":"Punctate inner choroidopathy","DiseaseID__c":"GARD:0007503","id":7503,"encodedName":"punctate-inner-choroidopathy","IsDeleted":false,"Disease_Name_Full__c":"Punctate inner choroidopathy","Xref_IDs__c":"312950007; C0730321; MEDGEN:152679; MONDO:0035584; ORPHA:580951","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0035584","Disease_Description__c":"A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.","GARD_Name__c":"Punctate inner choroidopathy","GARD_Synonym__c":"pic - punctate inner choroidopathy; punctate inner choroiditis","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid (vascular layer) of the eye. It most commonly occurs in young, near-sighted (myopic) women. The symptoms and severity may vary from person to person. Symptoms may include a blind spot (scotomata), blurred vision, photopsia (perceived flashes of light), floaters, light sensitivity (photophobia), distorted vision, and/or loss of peripheral vision. The exact cause of PIC is not known, but it is thought to involve both genetic predisposition and environmental factors.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:580951","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035584","ORPHANET_ID__c":"ORPHA:580951","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Coroidopatía punteada interna","Spanish_Description_Source__c":"ORPHA:580951","Spanish_Description__c":"Es un trastorno oftálmico poco frecuente caracterizado por lesiones coriorretinianas punteadas, amarillentas, asimétricas, típicamente bilaterales, en el polo posterior, que forman un patrón de ramificación lineal y progresan a cicatrices atróficas. En muchos casos se producen membranas neovasculares subretinianas. La vitritis siempre está ausente. Los pacientes pueden presentar visión borrosa, escotoma, moscas volantes, fotopsia y metamorfopsia. La formación de membranas neovasculares coroideas y la fibrosis subretiniana son las principales causas de pérdida visual. La condición ocurre predominantemente en mujeres jóvenes con miopía.","Spanish_Disease_Name__c":"coroidopatía punteada interna","Spanish_GARD_Synonym__c":"coroidopatía punctata interna","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":"Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid (vascular layer) of the eye. It most commonly occurs in young, near-sighted (myopic) women. The symptoms and severity may vary from person to person. Symptoms may include a blind spot (scotomata), blurred vision, photopsia (perceived flashes of light), floaters, light sensitivity (photophobia), distorted vision, and/or loss of peripheral vision. The exact cause of PIC is not known, but it is thought to involve both genetic predisposition and environmental factors.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"pic - punctate inner choroidopathy; punctate inner choroiditis","Name":"Punctate inner choroidopathy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Macular Disease Society","Website__c":"https://www.macularsociety.org/"},{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.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:580951"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/580951","Source__c":"MONDO:0035584","Xref__c":"ORPHA:580951"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=152679","Source__c":"C0730321","Xref__c":"MEDGEN:152679"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0730321","Source__c":"C0730321","Xref__c":"C0730321"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035584","Source__c":"GARD:0007503","Xref__c":"MONDO:0035584"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=312950007","Source__c":"C0730321","Xref__c":"312950007"}],"tags":{"Specialist":["Ophthalmology"]},"synonyms":["pic - punctate inner choroidopathy"," punctate inner choroiditis"]}