{"Name":"Bradyopsia","DiseaseID__c":"GARD:0012299","id":12299,"encodedName":"bradyopsia","IsDeleted":false,"Disease_Name_Full__c":"Bradyopsia","Xref_IDs__c":"711163009; C1842073; C564243; DOID:0050335; HP:0030511; MEDGEN:331206; MONDO:0012033; OMIMPS:608415; ORPHA:75374","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012033","Disease_Description__c":"A rare genetic retinal disorder characterized by childhood-onset of markedly delayed visual adaptation to both dark and light conditions, marked difficulties tracking moving objects, and mild photophobia. Visual acuity is variably reduced, while color vision is unaffected.","GARD_Name__c":"Bradyopsia","GARD_Synonym__c":"difficulty seeing moving objects; perrs; prolonged electroretinal response suppression","Curated_Disease_Description_Source__c":"MONDO:0012033","Curated_Disease_Description__c":"Bradyopsia is a rare condition that affects vision. The term 'bradyopsia' is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day. Some people with bradyopsia also have difficulty seeing some moving objects, particularly small objects moving against a bright background. As a result, they often have trouble watching or participating in sports with a ball, such as soccer or tennis. People with bradyopsia can have reduced sharpness (acuity) of vision, although acuity may depend on the conditions under which vision is tested. Visual acuity may appear to be severely affected if it is tested under bright lights, but it can be near normal if tested in a dim environment. The ability to see colors and distinguish between them is normal. The vision problems associated with bradyopsia become apparent in early childhood. They are usually stable, which means they do not worsen over time.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:75374","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0012033","ORPHANET_ID__c":"ORPHA:75374","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Bradiopsia","Spanish_Description_Source__c":"ORPHA:75374","Spanish_Description__c":"Es un trastorno de la retina de origen genético y poco frecuente caracterizado por el inicio en la infancia de un notable retraso de la adaptación visual a condiciones tanto de oscuridad como de iluminación, marcadas dificultades para rastrear objetos en movimiento y fotofobia leve. La agudeza visual se reduce de forma variable, mientras que la visión de los colores no se ve afectada.","Spanish_Disease_Name__c":"bradiopsia","Spanish_GARD_Synonym__c":"perrs; supresión de la respuesta electroretineana prolongada; supresión prolongada de la respuesta electroretiniana","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":"Bradyopsia is a rare condition that affects vision. The term 'bradyopsia' is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day. Some people with bradyopsia also have difficulty seeing some moving objects, particularly small objects moving against a bright background. As a result, they often have trouble watching or participating in sports with a ball, such as soccer or tennis. People with bradyopsia can have reduced sharpness (acuity) of vision, although acuity may depend on the conditions under which vision is tested. Visual acuity may appear to be severely affected if it is tested under bright lights, but it can be near normal if tested in a dim environment. The ability to see colors and distinguish between them is normal. The vision problems associated with bradyopsia become apparent in early childhood. They are usually stable, which means they do not worsen over time.","Curated_Disease_Description_Source__c":"MONDO:0012033","GARD_Synonym__c":"difficulty seeing moving objects; perrs; prolonged electroretinal response suppression","Name":"Bradyopsia","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":"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":"Childhood","Provided_By__c":"ORPHA:75374"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012299","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564243","Source__c":"MONDO:0012033","Xref__c":"C564243"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=711163009","Source__c":"C1842073; MONDO:0012033","Xref__c":"711163009"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS608415","Source__c":"MONDO:0012033","Xref__c":"OMIMPS:608415"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050335","Source__c":"MONDO:0012033","Xref__c":"DOID:0050335"},{"URL__c":"https://www.orpha.net/en/disease/detail/75374","Source__c":"C1842073; MONDO:0012033; ORPHA:75374","Xref__c":"ORPHA:75374"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842073","Source__c":"C1842073","Xref__c":"C1842073"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331206","Source__c":"C1842073","Xref__c":"MEDGEN:331206"},{"URL__c":"https://medlineplus.gov/genetics/condition/bradyopsia","Source__c":"GARD:0012299","Xref__c":"https://medlineplus.gov/genetics/condition/bradyopsia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012033","Source__c":"GARD:0012299","Xref__c":"MONDO:0012033"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030511","Source__c":"C1842073","Xref__c":"HP:0030511"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RGS9BP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rgs9bp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RGS9","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rgs9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:75374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75374","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["difficulty seeing moving objects"," perrs"," prolonged electroretinal response suppression"]}