{"Name":"Vitelliform macular dystrophy 2","DiseaseID__c":"GARD:0000182","id":182,"encodedName":"vitelliform-macular-dystrophy-2","IsDeleted":false,"Disease_Name_Full__c":"Vitelliform macular dystrophy 2","Xref_IDs__c":"763387005; C2745945; MEDGEN:411553; MONDO:0007931; OMIM:153700; ORPHA:1243","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007931","Disease_Description__c":"Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.","GARD_Name__c":"Vitelliform macular dystrophy 2","GARD_Synonym__c":"best disease; best macular dystrophy; best vitelliform macular dystrophy; best vitelliform macular dystrophy, multifocal; best1 retinopathy; bmd; bmd - best macular dystrophy; bvmd; bvmd - best vitelliform macular dystrophy; early-onset vitelliform macular dystrophy; juvenile-onset vitelliform macular dystrophy; macular degeneration, polymorphic vitelline; macular dystrophy, vitelliform, type 2; polymorphic vitelline macular degeneration; vitelliform macular dystrophy type 2; vitelliform macular dystrophy, early-onset; vitelliform macular dystrophy, juvenile-onset","Curated_Disease_Description_Source__c":"GARD:0000182","Curated_Disease_Description__c":"Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is characterized by impaired central visual function and atrophy of the retinal pigment epithelium. (The retina is the back part of the eye that contains the specialized cells that respond to light, known as photoreceptors.) BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by genetic changes in the BEST1 gene; in a few cases the cause is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:1243","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007931","ORPHANET_ID__c":"ORPHA:1243","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia viteliforme macular de best","Spanish_Description_Source__c":"ORPHA:1243","Spanish_Description__c":"La distrofia macular viteliforme de Best (BVMD) es una distrofia macular genética caracterizada por pérdida de agudeza visual central, metamorfopsia y disminución del índice de Arden a consecuencia de una lesión en forma de yema de huevo localizada en la región foveal o parafoveal.","Spanish_Disease_Name__c":"distrofia viteliforme macular de best","Spanish_GARD_Synonym__c":"bmd; bvmd; degeneración viteliforme macular polimórfica; distrofia macular de best; distrofia viteliforme macular de inicio juvenil; distrofia viteliforme macular de inicio precoz; distrofia viteliforme macular tipo 2; enfermedad de best","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":"Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is characterized by impaired central visual function and atrophy of the retinal pigment epithelium. (The retina is the back part of the eye that contains the specialized cells that respond to light, known as photoreceptors.) BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by genetic changes in the BEST1 gene; in a few cases the cause is unknown.","Curated_Disease_Description_Source__c":"GARD:0000182","GARD_Synonym__c":"best disease; best macular dystrophy; best vitelliform macular dystrophy; best vitelliform macular dystrophy, multifocal; best1 retinopathy; bmd; bmd - best macular dystrophy; bvmd; bvmd - best vitelliform macular dystrophy; early-onset vitelliform macular dystrophy; juvenile-onset vitelliform macular dystrophy; macular degeneration, polymorphic vitelline; macular dystrophy, vitelliform, type 2; polymorphic vitelline macular degeneration; vitelliform macular dystrophy type 2; vitelliform macular dystrophy, early-onset; vitelliform macular dystrophy, juvenile-onset","Name":"Vitelliform macular dystrophy 2","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Royal National Institute of Blind People","Website__c":"https://www.rnib.org.uk/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"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":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.org/"},{"Account_Name__c":"Retina International","Website__c":"https://retina-international.org/"},{"Account_Name__c":"The Association for Fighting Best Disease","Website__c":"http://www.best.org.il/"},{"Account_Name__c":"Macular Degeneration Foundation","Website__c":"https://eyesight.org/"},{"Account_Name__c":"BrightFocus Foundation","Website__c":"https://www.brightfocus.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1243"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:1243"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000182","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1167","Source__c":"Gene Review","Xref__c":"NBK1167"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=411553","Source__c":"C2745945","Xref__c":"MEDGEN:411553"},{"URL__c":"https://www.orpha.net/en/disease/detail/1243","Source__c":"C2745945; MONDO:0007931; ORPHA:1243","Xref__c":"ORPHA:1243"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763387005","Source__c":"C2745945; MONDO:0007931","Xref__c":"763387005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2745945","Source__c":"C2745945","Xref__c":"C2745945"},{"URL__c":"https://www.omim.org/entry/153700","Source__c":"C2745945; MONDO:0007931; ORPHA:1243","Xref__c":"OMIM:153700"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007931","Source__c":"GARD:0000182","Xref__c":"MONDO:0007931"},{"URL__c":"https://medlineplus.gov/genetics/condition/vitelliform-macular-dystrophy","Source__c":"GARD:0000182","Xref__c":"https://medlineplus.gov/genetics/condition/vitelliform-macular-dystrophy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BEST1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/best1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1243","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012508","HPO_Name__c":"Metamorphopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Well-defined, pale patches in the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001139","HPO_Name__c":"Chorioretinal scalloped atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1243","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:1243","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of macular degeneration characterized by the presence of multiple cystoid spaces in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008028","HPO_Synonym__c":"Cystic macular degeneration","HPO_Name__c":"Cystoid macular degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1243","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":"ORPHA:1243","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["best disease"," best macular dystrophy"," best vitelliform macular dystrophy"," best vitelliform macular dystrophy, multifocal"," best1 retinopathy"," bmd"," bmd - best macular dystrophy"," bvmd"," bvmd - best vitelliform macular dystrophy"," early-onset vitelliform macular dystrophy"," juvenile-onset vitelliform macular dystrophy"," macular degeneration, polymorphic vitelline"," macular dystrophy, vitelliform, type 2"," polymorphic vitelline macular degeneration"," vitelliform macular dystrophy type 2"," vitelliform macular dystrophy, early-onset"," vitelliform macular dystrophy, juvenile-onset"],"spanishId":13120,"spanishName":"distrofia-macular-viteliforme-de-best"}