{"Name":"Autosomal dominant vitreoretinochoroidopathy","DiseaseID__c":"GARD:0005507","id":5507,"encodedName":"autosomal-dominant-vitreoretinochoroidopathy","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant vitreoretinochoroidopathy","Xref_IDs__c":"711162004; C3888099; C536352; DOID:0111569; MEDGEN:854768; MONDO:0008662; OMIM:193220; ORPHA:3086","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008662","Disease_Description__c":"A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.","GARD_Name__c":"Autosomal dominant vitreoretinochoroidopathy","GARD_Synonym__c":"advirc; autosomal dominant vitreoretinochoroidopathy with nanophthalmos; vitreoretinochoroidopathy; vitreoretinochoroidopathy with microcornea, glaucoma and cataract; vitreoretinochoroidopathy with microcornea, glaucoma, and cataract; vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos","Curated_Disease_Description_Source__c":"MONDO:0008662","Curated_Disease_Description__c":"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. 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. 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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:3086","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008662","ORPHANET_ID__c":"ORPHA:3086","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Retinocoroidopatía vítrea autosómica dominante","Spanish_Description_Source__c":"ORPHA:3086","Spanish_Description__c":"Es una enfermedad genética vitreorretiniana caracterizada por anomalías oculares del desarrollo como microcórnea, una cámara anterior superficial, glaucoma y cataratas. Se observa pigmentación coriorretiniana anómala, normalmente entre las venas del vórtice y el borde anterior de la retina de 360 grados.","Spanish_Disease_Name__c":"retinocoroidopatía vítrea autosómica dominante","Spanish_GARD_Synonym__c":"advirc","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":"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. 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. 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.","Curated_Disease_Description_Source__c":"MONDO:0008662","GARD_Synonym__c":"advirc; autosomal dominant vitreoretinochoroidopathy with nanophthalmos; vitreoretinochoroidopathy; vitreoretinochoroidopathy with microcornea, glaucoma and cataract; vitreoretinochoroidopathy with microcornea, glaucoma, and cataract; vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos","Name":"Autosomal dominant vitreoretinochoroidopathy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:3086"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3888099"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005507","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/mesh/C536352","Source__c":"MONDO:0008662","Xref__c":"C536352"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111569","Source__c":"MONDO:0008662","Xref__c":"DOID:0111569"},{"URL__c":"https://www.orpha.net/en/disease/detail/3086","Source__c":"C3888099; MONDO:0008662; ORPHA:3086","Xref__c":"ORPHA:3086"},{"URL__c":"https://www.omim.org/entry/193220","Source__c":"C3888099; MONDO:0008662; ORPHA:3086","Xref__c":"OMIM:193220"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=854768","Source__c":"C3888099","Xref__c":"MEDGEN:854768"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=711162004","Source__c":"C3888099; MONDO:0008662","Xref__c":"711162004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3888099","Source__c":"C3888099","Xref__c":"C3888099"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008662","Source__c":"GARD:0005507","Xref__c":"MONDO:0008662"},{"URL__c":"https://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy","Source__c":"GARD:0005507","Xref__c":"https://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy"}],"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":"OMIM:193220","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030856","HPO_Name__c":"Posterior staphyloma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000580","HPO_Synonym__c":"Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration","HPO_Name__c":"Pigmentary retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","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:193220","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007661","HPO_Name__c":"Abnormality of chorioretinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. This can affect the inner or mid-retinal structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007985","HPO_Synonym__c":"Blocked retinal arteriole; Blocked retinal artery","HPO_Name__c":"Retinal arteriolar occlusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"In ischemic retinal disease, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels. Ischemia invariably leads to the upregulation of Vascular Endothelial Growth Factor (VEGF) production. Most frequently the new vessels grow internal to the plane of the retina. However, intraretinal proliferation of new vessels can also occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030666","HPO_Synonym__c":"Retinal vascular proliferation","HPO_Name__c":"Retinal neovascularization","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007641","HPO_Synonym__c":"Color blindness","HPO_Name__c":"Dyschromatopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"Focal decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008043","HPO_Synonym__c":"Constricted retinal arterioles; Narrow retinal arterioles; Retinal arteriolar constriction; Retinal arteriolar narrowing","HPO_Name__c":"Focal retinal arteriolar constriction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010693","HPO_Synonym__c":"Pulverulent cataract","HPO_Name__c":"Pulverulent cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"Bleeding within the vitreous compartment of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007902","HPO_Name__c":"Vitreous hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193220","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Retinal","Anterior segment of Eye","Pediatrics"],"Account":["Retinal"]},"synonyms":["advirc"," autosomal dominant vitreoretinochoroidopathy with nanophthalmos"," vitreoretinochoroidopathy"," vitreoretinochoroidopathy with microcornea, glaucoma and cataract"," vitreoretinochoroidopathy with microcornea, glaucoma, and cataract"," vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos"]}