{"Name":"Eales disease","DiseaseID__c":"GARD:0006309","id":6309,"encodedName":"eales-disease","IsDeleted":false,"Disease_Name_Full__c":"Eales disease","Xref_IDs__c":"54122009; C0271073; C538011; MEDGEN:75733; MONDO:0018460; ORPHA:40923","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018460","Disease_Description__c":"A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.","GARD_Name__c":"Eales disease","GARD_Synonym__c":"eales' disease; idiopathic retinal perivasculitis; idiopathic retinal vasculitis","Curated_Disease_Description_Source__c":"GARD:0006309","Curated_Disease_Description__c":"Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of the eye, seeps out.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:40923","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018460","ORPHANET_ID__c":"ORPHA:40923","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de eales","Spanish_Description_Source__c":"ORPHA:40923","Spanish_Description__c":"Es un trastorno oftalmológico poco frecuente caracterizado por tres fases: vasculitis, oclusión y neovascularización retiniana, que conduce a hemorragias vítreas recurrentes y pérdida de visión.","Spanish_Disease_Name__c":"enfermedad de eales","Spanish_GARD_Synonym__c":"perivasculitis retiniana idiopática; vasculitis retiniana idiopática","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":"Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of the eye, seeps out.","Curated_Disease_Description_Source__c":"GARD:0006309","GARD_Synonym__c":"eales' disease; idiopathic retinal perivasculitis; idiopathic retinal vasculitis","Name":"Eales disease","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"Adult","Provided_By__c":"ORPHA:40923"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:40923"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538011","Source__c":"MONDO:0018460","Xref__c":"C538011"},{"URL__c":"https://www.orpha.net/en/disease/detail/40923","Source__c":"C0271073; MONDO:0018460; ORPHA:40923","Xref__c":"ORPHA:40923"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75733","Source__c":"C0271073","Xref__c":"MEDGEN:75733"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=54122009","Source__c":"C0271073; MONDO:0018460","Xref__c":"54122009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0271073","Source__c":"C0271073","Xref__c":"C0271073"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018460","Source__c":"GARD:0006309","Xref__c":"MONDO:0018460"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011497","HPO_Synonym__c":"Iris neovascularization; Neovascularization of the iris; New blood vessel formation in iris","HPO_Name__c":"Rubeosis iridis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Frequent (30-79%)","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:40923","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002196","HPO_Name__c":"Myelopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. It can either have a cystoid aspect in the fovea, or a more diffuse aspect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040049","HPO_Name__c":"Macular edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030652","HPO_Name__c":"Vitreous haze","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002313","HPO_Name__c":"Spastic paraparesis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002140","HPO_Name__c":"Ischemic stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","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:40923","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:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030329","HPO_Synonym__c":"Retinal thinning","HPO_Name__c":"Retinal thinning on OCT","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007052","HPO_Name__c":"Multifocal cerebral white matter abnormalities","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000543","HPO_Synonym__c":"Pale optic disc","HPO_Name__c":"Optic disc pallor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","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:40923","HPO_Frequency__c":"Uncommon (<1-4%)","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:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","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:40923","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:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011505","HPO_Synonym__c":"Cystoid macular edema","HPO_Name__c":"Cystoid macular edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000421","HPO_Synonym__c":"Bloody nose; Frequent nosebleeds; Nasal hemorrhage; Nose bleed; Nose bleeding; Nosebleed","HPO_Name__c":"Epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012122","HPO_Name__c":"Anterior uveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. It can affect veins, arteries or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025188","HPO_Name__c":"Retinal vasculitis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030773","HPO_Name__c":"Internuclear ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011531","HPO_Synonym__c":"Hyalitis; Vitreitis","HPO_Name__c":"Vitritis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes, in the absence of a full-thickness retinal defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007917","HPO_Name__c":"Tractional retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of retinal neovascularization that affects the periphery of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030667","HPO_Name__c":"Peripheral retinal neovascularization","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002326","HPO_Synonym__c":"Mini stroke; TIA; Transient ischemic attacks","HPO_Name__c":"Transient ischemic attack","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of retinal detachment associated with a full-thickness defect in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012230","HPO_Name__c":"Rhegmatogenous retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:40923","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An accumulation of blood that is located between the retina and the detached posterior hyaloid, or in the vitreous cavity. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025240","HPO_Synonym__c":"Preretinal haeme; Preretinal heme; Subhyaloid heme","HPO_Name__c":"Preretinal hemorrhage","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["eales' disease"," idiopathic retinal perivasculitis"," idiopathic retinal vasculitis"]}