{"Name":"Cone dystrophy, X-linked, with tapetal-like sheen","DiseaseID__c":"GARD:0010119","id":10119,"encodedName":"cone-dystrophy-x-linked-with-tapetal-like-sheen","IsDeleted":false,"Disease_Name_Full__c":"Cone dystrophy, X-linked, with tapetal-like sheen","Xref_IDs__c":"C1844775; C535975; MEDGEN:336776; MONDO:0010567; OMIM:304030","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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:304030","Disease_Description__c":"{1:Heckenlively and Weleber (1986)} described 2 families with a 'new' form of X-linked cone dystrophy characterized by a peculiar greenish-golden tapetal-like sheen of large areas of the retina; onset of symptoms in the third decade; gradual loss of vision with development of macular lesions in older patients; defective color vision; elevated cone thresholds on dark adaptometry; and abnormalities of the cone-mediated electroretinogram. One patient developed rhegmatogenous retinal detachment in one eye. Although the disorder was different from Oguchi disease ({258100}) in clinical features and mode of inheritance, the patients showed the Mizuo-Nakamura phenomenon as in Oguchi disease: fading of the retinal sheen with clearer revealing of choroidal structures, on dark adaptation.","GARD_Name__c":"Cone dystrophy, X-linked, with tapetal-like sheen","GARD_Synonym__c":"x-linked recessive cone dystrophy with tapetal-like sheen","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Cone dystrophy, x-linked, with tapetal-like sheen is a rare eye disease that affects the retina. People with this disease may experience a greenish-golden sheen in large areas of their retina. Symptoms usually start in a person's 30s and include gradual vision loss, color vision problems, and difficulty seeing in the dark. Some people with this disease may show a symptom called the Mizuo-Nakamura phenomenon, where the retina appears to fade and reveal other structures in the eye when in the dark. In some cases, patients may develop a detached retina.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:304030","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010567","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Cone dystrophy, x-linked, with tapetal-like sheen is a rare eye disease that affects the retina. People with this disease may experience a greenish-golden sheen in large areas of their retina. Symptoms usually start in a person's 30s and include gradual vision loss, color vision problems, and difficulty seeing in the dark. Some people with this disease may show a symptom called the Mizuo-Nakamura phenomenon, where the retina appears to fade and reveal other structures in the eye when in the dark. In some cases, patients may develop a detached retina.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"x-linked recessive cone dystrophy with tapetal-like sheen","Name":"Cone dystrophy, X-linked, with tapetal-like sheen","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/304030","Source__c":"C1844775; MONDO:0010567","Xref__c":"OMIM:304030"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535975","Source__c":"MONDO:0010567","Xref__c":"C535975"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336776","Source__c":"C1844775","Xref__c":"MEDGEN:336776"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844775","Source__c":"C1844775","Xref__c":"C1844775"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010567","Source__c":"GARD:0010119","Xref__c":"MONDO:0010567"}],"Inheritance__c":["X-linked"],"tags":{"Account":["Retinal"],"Specialist":["Retinal"]},"synonyms":["x-linked recessive cone dystrophy with tapetal-like sheen"]}