{"Name":"Retinal capillary malformation","DiseaseID__c":"GARD:0018908","id":18908,"encodedName":"retinal-capillary-malformation","IsDeleted":false,"Disease_Name_Full__c":"Retinal capillary malformation","Xref_IDs__c":"CN294193; MEDGEN:977232; MONDO:0019101; ORPHA:71213","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":8,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019101","Disease_Description__c":"Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.","GARD_Name__c":"Retinal capillary malformation","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:71213","Curated_Disease_Description__c":"Retinal capillary malformation is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:71213","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019101","ORPHANET_ID__c":"ORPHA:71213","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformación capilar de la retina","Spanish_Description_Source__c":"ORPHA:71213","Spanish_Description__c":"El hemangioma cavernoso retiniano es un hamartoma vascular retiniano benigno, poco frecuente, normalmente unilateral que, en la mayoría de casos, es asintomático pero que en algunos pacientes puede presentar visión borrosa o manchas flotantes y que se caracteriza por la presencia de vacuolas a modo de racimos de uva.","Spanish_Disease_Name__c":"malformación capilar de la retina","Spanish_GARD_Synonym__c":"hemangioma cavernoso de la retina","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":"Retinal capillary malformation is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.","Curated_Disease_Description_Source__c":"ORPHA:71213","Name":"Retinal capillary malformation","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:71213"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/71213","Source__c":"CN294193; MONDO:0019101","Xref__c":"ORPHA:71213"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019101","Source__c":"GARD:0018908","Xref__c":"MONDO:0019101"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN294193","Source__c":"CN294193","Xref__c":"CN294193"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=977232","Source__c":"CN294193","Xref__c":"MEDGEN:977232"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Perceived flashes of light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030786","HPO_Name__c":"Photopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011532","HPO_Name__c":"Subretinal exudate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Yellow-white intraretinal deposits in the retina typically associated with damaged inner blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001147","HPO_Synonym__c":"Retinal exudates","HPO_Name__c":"Retinal exudate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000646","HPO_Synonym__c":"Lazy eye; Wandering eye; Wandering eyes","HPO_Name__c":"Amblyopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inequality of refractive power of the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012803","HPO_Name__c":"Anisometropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding in the anterior chamber of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011886","HPO_Name__c":"Hyphema","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100832","HPO_Synonym__c":"Eye floaters; Flitting flies; Mouches volantes; Myodeopsia; Myodesopsia; Spots in front of eyes; Vitreous condensations; Vitreous debris; Vitreous opacities; Vitreous veils","HPO_Name__c":"Vitreous floaters","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of sharpness of vision resulting in the inability to see fine detail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000622","HPO_Synonym__c":"Blurred vision","HPO_Name__c":"Blurred vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100014","HPO_Synonym__c":"Cellophane maculopathy; Macular pucker; Premacular fibrosis; Surface wrinkling retinopathy","HPO_Name__c":"Epiretinal membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030528","HPO_Name__c":"Paracentral scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:71213","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A benign vascular tumor of the retina without any neoplastic characteristics.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009711","HPO_Name__c":"Retinal capillary hemangioma","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71213","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A localized dilation or outpouching of microvasculature formed due to disruption of the vessel wall of a retinal capillary blood vessel. The lesions present as small red dots with distinct margins and are not larger than a blood vessel width at the disk margin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032416","HPO_Name__c":"Retinal microaneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Neurology","Ophthalmology","Retinal","Vascular Neurology","Vascular Medicine","Pediatrics"],"Disease Category":["Cancer","Genetics","Neurology","Congenital Abnormality"],"Cause":["Genetics"],"Account":["Retinal"]},"synonyms":[""]}