{"Name":"Progressive bifocal chorioretinal atrophy","DiseaseID__c":"GARD:0010123","id":10123,"encodedName":"progressive-bifocal-chorioretinal-atrophy","IsDeleted":false,"Disease_Name_Full__c":"Progressive bifocal chorioretinal atrophy","Xref_IDs__c":"719266007; C1833321; C535356; MEDGEN:371537; MONDO:0010932; OMIM:600790; ORPHA:75373","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010932","Disease_Description__c":"Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.","GARD_Name__c":"Progressive bifocal chorioretinal atrophy","GARD_Synonym__c":"crapb; pbcra","Curated_Disease_Description_Source__c":"GARD:0010123","Curated_Disease_Description__c":"Progressive bifocal chorioretinal atrophy (PBCRA) is an inherited condition of the eye characterized by a large wasted region of the macula, lesions in the area of the retina closest to the nose (the nasal retina), nystagmus (fast, uncontrollable movements of the eyes), myopia (nearsightedness), poor vision, and slow disease progression. Widespread abnormalities of rod and cone function has been described. PBCRA is caused by genetic changes in a gene which has mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus. It is inherited in an autosomal dominant fashion.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:75373","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010932","ORPHANET_ID__c":"ORPHA:75373","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia progresiva bifocal de la coroides y la retina","Spanish_Description_Source__c":"ORPHA:75373","Spanish_Description__c":"La atrofia coriorretiniana bifocal progresiva (PBCRA) es una distrofia coriorretiniana de aparición temprana, caracterizada por grandes lesiones atróficas retinales y de la mácula nasal, nistagmo, miopía, mala visión y progresión lenta de la enfermedad.","Spanish_Disease_Name__c":"atrofia progresiva bifocal de la coroides y la retina","Spanish_GARD_Synonym__c":"atrofia coriorretiniana bifocal progresiva","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":"Progressive bifocal chorioretinal atrophy (PBCRA) is an inherited condition of the eye characterized by a large wasted region of the macula, lesions in the area of the retina closest to the nose (the nasal retina), nystagmus (fast, uncontrollable movements of the eyes), myopia (nearsightedness), poor vision, and slow disease progression. Widespread abnormalities of rod and cone function has been described. PBCRA is caused by genetic changes in a gene which has mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus. It is inherited in an autosomal dominant fashion.","Curated_Disease_Description_Source__c":"GARD:0010123","GARD_Synonym__c":"crapb; pbcra","Name":"Progressive bifocal chorioretinal atrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Macular Degeneration Foundation","Website__c":"https://eyesight.org/"}],"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":"Infancy","Provided_By__c":"ORPHA:75373"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:75373"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535356","Source__c":"MONDO:0010932","Xref__c":"C535356"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719266007","Source__c":"C1833321; MONDO:0010932","Xref__c":"719266007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=371537","Source__c":"C1833321","Xref__c":"MEDGEN:371537"},{"URL__c":"https://www.omim.org/entry/600790","Source__c":"C1833321; MONDO:0010932; ORPHA:75373","Xref__c":"OMIM:600790"},{"URL__c":"https://www.orpha.net/en/disease/detail/75373","Source__c":"C1833321; MONDO:0010932; ORPHA:75373","Xref__c":"ORPHA:75373"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833321","Source__c":"C1833321","Xref__c":"C1833321"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010932","Source__c":"GARD:0010123","Xref__c":"MONDO:0010932"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:75373","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000565","HPO_Synonym__c":"Inward turning cross eyed","HPO_Name__c":"Esotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75373","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"}},{"Provided_By__c":"ORPHA:75373","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:75373","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:75373","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001135","HPO_Name__c":"Chorioretinal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75373","HPO_Frequency__c":"Very frequent (80-99%)","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:75373","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007401","HPO_Name__c":"Macular atrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["crapb"," pbcra"]}