{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0008662/OMIM:193220","label":"Vitreoretinochoroidopathy","mondoId":"MONDO:0008662","onsetQualifier":null,"recordKeys":["1aef4dd0c46185c52917dafaa7a6cb41f48522b6871154d49c29b7da90268802","2477959c606527da28059a95b2b87a2635e5e20df0e8d976f3d63d6364127c27","3efba71918fd56e59de924e9bb5dea20c66148922efa90cfe21f4d11df9d73a8","57705ab9c9dcfbbfc54704cbcefe83d507e8938f227284d662f5ecb62f527508","5efa82175122762f2c627a108b6c7d169ef0a7b6b6b99a5814a283e1e8600c81","6266db3b2b9411525bbec78f6945150000826e418403f1ec06887c63003377fc","754d85f41f08738fbc51cc5d61a3292057fd899f6696d36ba6590d0d79d6f851","7aab7358505bb00ece008a02c5ae6b969076a2ebd4189be2ead4c31fd654cee5","824d245e22bf9fe87155ad0ec524845c6536926ead23ab7cc8cff0fa2cd2a38a","851ec12e9b8bf686ede52c438475f1fed457ea7cddeeeb5d21ab4adcbd1ab4a2","89c64b46b70020543b3a86638530a3544b2aff174f9d056d05eef1b113454f15","9300e5e278b07ec88110d5be26a6595598c5fe74d3797f4459e0710ef48ae4e2","979eb74eb5992e0386bfba9307ee4a586d1556708b1646814fe9e811e91b59ea","cb8b6b8d94c345f6318b0d65d9e3a1b12f68f88b030c1b2bf3814f686d59d48f","da300c51d5af614ef9b6a527c4f349389f0e818c8f251c85b831e8dc14d42d97","db07155e316149d883db353f29f13255821a12b2db607e23fb95255ed26545a3","ee2b6bc658f8387db1e90715a8a15a91ded6ea2e840af9ff7017775eb74211a0","f108ea33ee7dd82a9d654fc5f77b02c853a3c7bc21399639b6de991bed5ef341","fe630ade81116c82909c73d0ba9bb85009dead86fa4f552aafcce4ecd2faec9b"],"recordQualifiers":{},"scopeLabel":"OMIM:193220","sourceIds":["OMIM:193220"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0008662/OMIM:193220"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":19,"sourceGroups":{"omim":15,"orphanet":0,"published":4}},"features":[{"hpoId":"HP:0007661","label":"Abnormality of chorioretinal pigmentation","primary":false},{"hpoId":"HP:0000618","label":"Blindness","primary":false},{"hpoId":"HP:0000551","label":"Color vision defect","primary":false},{"hpoId":"HP:0000519","label":"Developmental cataract","primary":false},{"hpoId":"HP:0007641","label":"Dyschromatopsia","primary":false},{"hpoId":"HP:0008043","label":"Focal retinal arteriolar constriction","primary":false},{"hpoId":"HP:0000501","label":"Glaucoma","primary":false},{"hpoId":"HP:0000482","label":"Microcornea","primary":false},{"hpoId":"HP:0000568","label":"Microphthalmia","primary":false},{"hpoId":"HP:0000662","label":"Nyctalopia","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0000580","label":"Pigmentary retinopathy","primary":false},{"hpoId":"HP:0030856","label":"Posterior staphyloma","primary":false},{"hpoId":"HP:0010693","label":"Pulverulent cataract","primary":false},{"hpoId":"HP:0007985","label":"Retinal arteriolar occlusion","primary":false},{"hpoId":"HP:0000541","label":"Retinal detachment","primary":false},{"hpoId":"HP:0030666","label":"Retinal neovascularization","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0007902","label":"Vitreous hemorrhage","primary":false}],"ledeHtml":"Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision.","mondoId":"MONDO:0008662","records":[{"frequencyKind":"reported","key":"1aef4dd0c46185c52917dafaa7a6cb41f48522b6871154d49c29b7da90268802","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000580","is_excluded":false,"label":"Pigmentary retinopathy","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2477959c606527da28059a95b2b87a2635e5e20df0e8d976f3d63d6364127c27","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000501","is_excluded":false,"label":"Glaucoma","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"3efba71918fd56e59de924e9bb5dea20c66148922efa90cfe21f4d11df9d73a8","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"57705ab9c9dcfbbfc54704cbcefe83d507e8938f227284d662f5ecb62f527508","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000482","is_excluded":false,"label":"Microcornea","onset_id":"HP:0003577","reference":"PMID:15452077","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5efa82175122762f2c627a108b6c7d169ef0a7b6b6b99a5814a283e1e8600c81","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007902","is_excluded":false,"label":"Vitreous hemorrhage","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6266db3b2b9411525bbec78f6945150000826e418403f1ec06887c63003377fc","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"754d85f41f08738fbc51cc5d61a3292057fd899f6696d36ba6590d0d79d6f851","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007985","is_excluded":false,"label":"Retinal arteriolar occlusion","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7aab7358505bb00ece008a02c5ae6b969076a2ebd4189be2ead4c31fd654cee5","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000618","is_excluded":false,"label":"Blindness","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"824d245e22bf9fe87155ad0ec524845c6536926ead23ab7cc8cff0fa2cd2a38a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0008043","is_excluded":false,"label":"Focal retinal arteriolar constriction","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"851ec12e9b8bf686ede52c438475f1fed457ea7cddeeeb5d21ab4adcbd1ab4a2","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007661","is_excluded":false,"label":"Abnormality of chorioretinal pigmentation","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"89c64b46b70020543b3a86638530a3544b2aff174f9d056d05eef1b113454f15","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0030666","is_excluded":false,"label":"Retinal neovascularization","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"9300e5e278b07ec88110d5be26a6595598c5fe74d3797f4459e0710ef48ae4e2","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000541","is_excluded":false,"label":"Retinal detachment","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"979eb74eb5992e0386bfba9307ee4a586d1556708b1646814fe9e811e91b59ea","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000519","is_excluded":false,"label":"Developmental cataract","onset_id":"HP:0003577","reference":"PMID:15452077","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"cb8b6b8d94c345f6318b0d65d9e3a1b12f68f88b030c1b2bf3814f686d59d48f","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0010693","is_excluded":false,"label":"Pulverulent cataract","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"da300c51d5af614ef9b6a527c4f349389f0e818c8f251c85b831e8dc14d42d97","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000662","is_excluded":false,"label":"Nyctalopia","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"db07155e316149d883db353f29f13255821a12b2db607e23fb95255ed26545a3","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"PCS","frequency_raw":"HP:0040283","hpo_id":"HP:0000568","is_excluded":false,"label":"Microphthalmia","onset_id":"HP:0003577","reference":"PMID:15452077","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"ee2b6bc658f8387db1e90715a8a15a91ded6ea2e840af9ff7017775eb74211a0","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0030856","is_excluded":false,"label":"Posterior staphyloma","onset_id":null,"reference":"PMID:15452077","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f108ea33ee7dd82a9d654fc5f77b02c853a3c7bc21399639b6de991bed5ef341","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"PCS","frequency_raw":"HP:0040283","hpo_id":"HP:0007641","is_excluded":false,"label":"Dyschromatopsia","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fe630ade81116c82909c73d0ba9bb85009dead86fa4f552aafcce4ecd2faec9b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:193220","disease_name":"Vitreoretinochoroidopathy","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000551","is_excluded":false,"label":"Color vision defect","onset_id":null,"reference":"OMIM:193220","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy\">Autosomal dominant vitreoretinochoroidopathy</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>ADVIRC is caused by mutations in the BEST1 gene. The protein produced from this gene, called bestrophin-1, is thought to play a critical role in normal vision. Bestrophin-1 is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium. This cell layer supports and nourishes the retina and is involved in growth and development of the eye, maintenance of the retina, and the normal function of specialized cells called photoreceptors that detect light and color. In the retinal pigment epithelium, bestrophin-1 functions as a channel that transports charged chlorine atoms (chloride ions) across the cell membrane.</p><p>Mutations in the BEST1 gene alter how the gene&#x27;s instructions are used to make bestrophin-1, which leads to production of versions of the protein that are missing certain segments or have extra segments. It is not clear how these versions of bestrophin affect chloride ion transport or lead to the eye abnormalities characteristic of ADVIRC. Researchers suspect that the abnormalities are related to defects in the retinal pigment epithelium or the photoreceptors.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Autosomal dominant vitreoretinochoroidopathy?"},{"bodyHtml":"<p>The signs and symptoms of ADVIRC vary, even among members of the same family. Many affected individuals have microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. The area behind the cornea can also be abnormally small, which is described as a shallow anterior chamber. Individuals with ADVIRC can develop increased pressure in the eyes (glaucoma) or clouding of the lens of the eye (cataract). In addition, some people have breakdown (degeneration) of the vitreous or the choroid.</p><p>A characteristic feature of ADVIRC, visible with a special eye exam, is a circular band of excess coloring (hyperpigmentation) in the retina. This feature can help physicians diagnose the disorder. Affected individuals may also have white spots on the retina.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"autosomal-dominant-vitreoretinochoroidopathy","sourceDocuments":[{"name":"Autosomal dominant vitreoretinochoroidopathy","reviewed":"2014-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:40.779925+00:00","label":"Causes","pageSha256":"fba6e2e991c77ea28aa8a35af8b6ccf964ed746de89870adc8fffdf33e6cd8de","sourceUrl":"https://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Autosomal dominant vitreoretinochoroidopathy"},"schemaVersion":1}