{"Name":"Vitelliform macular dystrophy 1","DiseaseID__c":"GARD:0010120","id":10120,"encodedName":"vitelliform-macular-dystrophy-1","IsDeleted":false,"Disease_Name_Full__c":"Vitelliform macular dystrophy 1","Xref_IDs__c":"C4551953; C537832; MEDGEN:1636950; MONDO:0007933; OMIM:153840","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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:153840","Disease_Description__c":"Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by {4:Manes et al., 2013}). In contrast to typical VMD (see {153700}), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals ({2:Hittner et al., 1984}).\\n\\n<Subhead> Genetic Heterogeneity of Vitelliform Macular Dystrophy\\n\\nSee also vitelliform macular dystrophy-2 (VMD2; {153700}), caused by mutation in the BEST1 gene ({607854}) on chromosome 11q; VMD3 ({608161}), caused by mutation in the PRPH2 gene ({179605}) on chromosome 6p21; VMD4 ({616151}), caused by mutation in the IMPG1 gene ({602870}) on chromosome 6q14; and VMD5 ({616152}), caused by mutation in the IMPG2 gene ({607056}) on chromosome 3q12.","GARD_Name__c":"Vitelliform macular dystrophy 1","GARD_Synonym__c":"vmd1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Macular dystrophy, vitelliform, 1 is a type of inherited retinal dystrophy that affects the macula lutea (central part of the retina), which is important for clear vision. Vitelliform macular dystrophies (VMDs) are a specific type of macular dystrophy characterized by round yellow deposits in the macula that contain a pigment called lipofuscin. Unlike other forms of vitelliform macular dystrophy, this atypical type requires a special test called fluorescein angiography for most reliable diagnosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:153840","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007933","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":"Macular dystrophy, vitelliform, 1 is a type of inherited retinal dystrophy that affects the macula lutea (central part of the retina), which is important for clear vision. Vitelliform macular dystrophies (VMDs) are a specific type of macular dystrophy characterized by round yellow deposits in the macula that contain a pigment called lipofuscin. Unlike other forms of vitelliform macular dystrophy, this atypical type requires a special test called fluorescein angiography for most reliable diagnosis.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"vmd1","Name":"Vitelliform macular dystrophy 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"},{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"Retina International","Website__c":"https://retina-international.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://uts.nlm.nih.gov/uts/umls/concept/C4551953","Source__c":"C4551953","Xref__c":"C4551953"},{"URL__c":"https://www.omim.org/entry/153840","Source__c":"C4551953; MONDO:0007933","Xref__c":"OMIM:153840"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537832","Source__c":"MONDO:0007933","Xref__c":"C537832"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1636950","Source__c":"C4551953","Xref__c":"MEDGEN:1636950"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007933","Source__c":"GARD:0010120","Xref__c":"MONDO:0007933"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:153840","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:153840","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":"OMIM:153840","Feature__r":{"HPO_Description__c":"Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007754","HPO_Name__c":"Macular dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:153840","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001123","HPO_Synonym__c":"Partial loss of field of vision; Visual field defects","HPO_Name__c":"Visual field defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:153840","Feature__r":{"HPO_Description__c":"Egg yolk-like (vitelliform) maculopathy is a lesion caused by the accumulation of material, often lipofuscin, in the subretinal space underlying the macula. Lesions may be singular or multiple, and may be either sharply or poorly demarcated.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007677","HPO_Synonym__c":"Vitelliform macular lesions; Vitelliform-like macular lesions","HPO_Name__c":"Vitelliform macular lesion","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Retinal"],"Specialist":["Retinal"]},"synonyms":["vmd1"]}