{"Name":"Adult-onset foveomacular vitelliform dystrophy","DiseaseID__c":"GARD:0010909","id":10909,"encodedName":"adult-onset-foveomacular-vitelliform-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Adult-onset foveomacular vitelliform dystrophy","Xref_IDs__c":"232049001; C1842914; MEDGEN:334280; MONDO:0011979; ORPHA:99000","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011979","Disease_Description__c":"A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.","GARD_Name__c":"Adult-onset foveomacular vitelliform dystrophy","GARD_Synonym__c":"adult onset vitelliform dystrophy; adult vitelliform macular dystrophy; adult-onset foveomacular dystrophy; adult-onset foveomacular dystrophy with choroidal neovascularization; adult-onset vitelliform macular dystrophy; aofmd; aofmd - adult-onset foveomacular dystrophy; avmd; avmd - adult vitelliform macular dystrophy; foveomacular dystrophy, adult-onset; foveomacular dystrophy, adult-onset, with or without choroidal neovascularization; gass disease; macular dystrophy, vitelliform, type 3; pseudo-best disease; pseudo-vitelliform macular dystrophy","Curated_Disease_Description_Source__c":"GARD:0010909","Curated_Disease_Description__c":"Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells. Some people remain without symptoms throughout their life. Other people with AVMD may slowly develop blurred and/or distorted vision, that can progress to central vision loss over time. In the past, AVMD was believed to be mainly a genetic disorder caused by genetic changes in the PRPH2, BEST1, IMPG1, and IMPG2 genes; however, recent studies focused on genetic testing suggest that the genetic cause for most cases of AVMD has not been found. Sometimes AVMD clearly runs in families in an autosomal dominant manner, but the inheritance is suspected to be more complicated in the majority of cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:99000","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011979","ORPHANET_ID__c":"ORPHA:99000","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia foveomacular viteliforme de inicio en el adulto","Spanish_Description_Source__c":"ORPHA:99000","Spanish_Description__c":"Es una distrofia macular genética poco frecuente caracterizada por visión borrosa, metamorfopsia y deficiencia visual leve a consecuencia de una lesión en forma de yema de huevo amarilla y ligeramente elevada localizada en la región foveal o parafoveal.","Spanish_Disease_Name__c":"distrofia foveomacular viteliforme de inicio en el adulto","Spanish_GARD_Synonym__c":"aofmd; avmd; disfrofia foveomacular de inicio en el adulto; disfrofia foveomacular de inicio en el adulto con neovascularización coroidea; distrofia macular viteliforme de inicio en el adulto; enfermedad de gass; pseudodistrofia macular viteliforme; pseudoenfermedad 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":"Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells. Some people remain without symptoms throughout their life. Other people with AVMD may slowly develop blurred and/or distorted vision, that can progress to central vision loss over time. In the past, AVMD was believed to be mainly a genetic disorder caused by genetic changes in the PRPH2, BEST1, IMPG1, and IMPG2 genes; however, recent studies focused on genetic testing suggest that the genetic cause for most cases of AVMD has not been found. Sometimes AVMD clearly runs in families in an autosomal dominant manner, but the inheritance is suspected to be more complicated in the majority of cases.","Curated_Disease_Description_Source__c":"GARD:0010909","GARD_Synonym__c":"adult onset vitelliform dystrophy; adult vitelliform macular dystrophy; adult-onset foveomacular dystrophy; adult-onset foveomacular dystrophy with choroidal neovascularization; adult-onset vitelliform macular dystrophy; aofmd; aofmd - adult-onset foveomacular dystrophy; avmd; avmd - adult vitelliform macular dystrophy; foveomacular dystrophy, adult-onset; foveomacular dystrophy, adult-onset, with or without choroidal neovascularization; gass disease; macular dystrophy, vitelliform, type 3; pseudo-best disease; pseudo-vitelliform macular dystrophy","Name":"Adult-onset foveomacular vitelliform dystrophy","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/"},{"Account_Name__c":"Macular Degeneration Foundation","Website__c":"https://eyesight.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:99000"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1842914"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010909","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/99000","Source__c":"C1842914; MONDO:0011979; ORPHA:99000","Xref__c":"ORPHA:99000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842914","Source__c":"C1842914","Xref__c":"C1842914"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334280","Source__c":"C1842914","Xref__c":"MEDGEN:334280"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=232049001","Source__c":"C1842914; MONDO:0011979","Xref__c":"232049001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011979","Source__c":"GARD:0010909","Xref__c":"MONDO:0011979"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IMPG2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PRPH2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prph2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BEST1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/best1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IMPG1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99000","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"}},{"Provided_By__c":"ORPHA:99000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of eyesight (visual perception).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000504","HPO_Synonym__c":"Abnormality of sight; Abnormality of vision; Vision issue","HPO_Name__c":"Abnormality of vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99000","HPO_Frequency__c":"Frequent (30-79%)","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:99000","HPO_Frequency__c":"Frequent (30-79%)","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:99000","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:99000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99000","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007730","HPO_Synonym__c":"Light eye color; Reduced iris pigmentation","HPO_Name__c":"Iris hypopigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99000","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:99000","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure of attachment of the retina during development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007899","HPO_Synonym__c":"Congenital retinal non-attachment","HPO_Name__c":"Retinal nonattachment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["adult onset vitelliform dystrophy"," adult vitelliform macular dystrophy"," adult-onset foveomacular dystrophy"," adult-onset foveomacular dystrophy with choroidal neovascularization"," adult-onset vitelliform macular dystrophy"," aofmd"," aofmd - adult-onset foveomacular dystrophy"," avmd"," avmd - adult vitelliform macular dystrophy"," foveomacular dystrophy, adult-onset"," foveomacular dystrophy, adult-onset, with or without choroidal neovascularization"," gass disease"," macular dystrophy, vitelliform, type 3"," pseudo-best disease"," pseudo-vitelliform macular dystrophy"]}