{"Name":"Retinal cone dystrophy type 1","DiseaseID__c":"GARD:0003196","id":3196,"encodedName":"retinal-cone-dystrophy-type-1","IsDeleted":false,"Disease_Name_Full__c":"Retinal cone dystrophy type 1","Xref_IDs__c":"C1867326; C566719; DOID:0081024; MEDGEN:356747; MONDO:0008374; OMIM:180020","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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:180020","Disease_Description__c":"{5:Krill et al. (1973)} defined an autosomal dominant form of diffuse cone degeneration. The findings of electroretinogram were distinctive. Progressive loss of visual acuity, photophobia, and defective color vision are the major complaints. Unlike retinitis pigmentosa ({180100}), loss of side vision and night blindness are rare complaints. The most common macular lesion has a bull's eye appearance produced by a central area of uninvolved epithelium. {5:Krill et al. (1973)} published pedigrees of extensively affected families. The patients may be mislabelled as total colorblindness. {1:Berson et al. (1968)}, {2:Davis and Hollenhorst (1955)}, {6:Sloan and Brown (1962)}, and others have reported families. {8:Warburg (1989)} reasoned that patients with mental retardation and retinal cone dystrophy might have visible chromosomal abnormalities. From the study of such patients and correlations with patients previously reported, {8:Warburg (1989)} concluded that a gene that causes retinal cone dystrophy is located in the region 6q25-q26. {7:Tranebjaerg et al. (1986)} described the case of a 6-year-old boy with cone dystrophy, mental retardation, facial dysmorphism, and short neck, hands and feet in whom a t(1;6)(q44;q27) was identified. This was said to be the first description of retinal cone dystrophy with a chromosomal aberration.\\n\\n{9:Went et al. (1992)} described an autosomal dominant cone dystrophy spanning 7 generations in a Dutch family. The onset of decline of visual acuity was after age 20; a nearly complete absence of blue-cone function developed before any abnormalities in visual acuity were detected by funduscopy, ERG, visual fields or fluorescein angiography.\\n\\nIn 10 patients with cone dystrophy, {3:Holopigian et al. (2004)} evaluated rod and cone photoreceptor function. Five of the patients were from a family with autosomal dominant cone dystrophy; the other 5 patients had no family history of cone dystrophy and were not related. Full-field ERG revealed that most of the patients had abnormal cone photoreceptor function. Some patients also showed rod photoreceptor abnormalities. The rod system changes were smaller than the cone system changes.\\n\\n{4:Kondo et al. (2004)} described a form of cone dystrophy which the peripheral cone system was more affected than the central cone system, and whose rod system was relatively normal ({609021}).","GARD_Name__c":"Retinal cone dystrophy type 1","GARD_Synonym__c":"cone dystrophy autosomal dominant; retinal cone degeneration; retinal cone dystrophy-1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Retinal cone dystrophy 1 is a disease that affects the cells in the eye that help people see color and detail. People with this disease may have trouble seeing clearly, be sensitive to light, and have difficulty telling colors apart. Unlike other eye diseases, people with this disease usually don't have problems seeing in the dark or losing their side vision. The disease can be passed down in families and can be caused by changes in genes. There are different types of cone dystrophy, and some may affect the cells in the center of the eye more than the cells on the edges.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:180020","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008374","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":"Retinal cone dystrophy 1 is a disease that affects the cells in the eye that help people see color and detail. People with this disease may have trouble seeing clearly, be sensitive to light, and have difficulty telling colors apart. Unlike other eye diseases, people with this disease usually don't have problems seeing in the dark or losing their side vision. The disease can be passed down in families and can be caused by changes in genes. There are different types of cone dystrophy, and some may affect the cells in the center of the eye more than the cells on the edges.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"cone dystrophy autosomal dominant; retinal cone degeneration; retinal cone dystrophy-1","Name":"Retinal cone dystrophy type 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.org/"},{"Account_Name__c":"Macular Disease Society","Website__c":"https://www.macularsociety.org/"}],"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://raresource.nih.gov/diseases/filter/0003196","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867326","Source__c":"C1867326","Xref__c":"C1867326"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566719","Source__c":"MONDO:0008374","Xref__c":"C566719"},{"URL__c":"https://www.omim.org/entry/180020","Source__c":"C1867326; MONDO:0008374","Xref__c":"OMIM:180020"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081024","Source__c":"MONDO:0008374","Xref__c":"DOID:0081024"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356747","Source__c":"C1867326","Xref__c":"MEDGEN:356747"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008374","Source__c":"GARD:0003196","Xref__c":"MONDO:0008374"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:180020","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180020","Feature__r":{"HPO_Description__c":"Progressive maculopathy characterized by concentric regions of hyper- and hypopigmentation, with an initial foveal sparing and whose appearance is said to resemble the central target of a dart board.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011504","HPO_Name__c":"Bull's eye maculopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180020","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000548","HPO_Synonym__c":"Cone rod dystrophy; Cone-rod retinal dystrophy","HPO_Name__c":"Cone/cone-rod dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180020","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":"OMIM:180020","Feature__r":{"HPO_Description__c":"An anomaly in the ability to discriminate between or recognize colors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000551","HPO_Synonym__c":"Abnormal color vision; Abnormality of color vision; Disturbed color vision","HPO_Name__c":"Color vision defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180020","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":"OMIM:180020","Feature__r":{"HPO_Description__c":"A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000546","HPO_Synonym__c":"Retina degeneration","HPO_Name__c":"Retinal degeneration","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Retinal"],"Specialist":["Retinal"]},"synonyms":["cone dystrophy autosomal dominant"," retinal cone degeneration"," retinal cone dystrophy-1"]}