{"Name":"Central areolar choroidal dystrophy","DiseaseID__c":"GARD:0010049","id":10049,"encodedName":"central-areolar-choroidal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Central areolar choroidal dystrophy","Xref_IDs__c":"231996009; 312918002; C1536451; H31.22; MEDGEN:283932; MONDO:0008982; OMIMPS:215500; ORPHA:75377","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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:0008982","Disease_Description__c":"A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.","GARD_Name__c":"Central areolar choroidal dystrophy","GARD_Synonym__c":"areolar atrophy of the macula; cacd; central areolar choroidal sclerosis; choroidal dystrophy","Curated_Disease_Description_Source__c":"MONDO:0008982","Curated_Disease_Description__c":"A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:75377","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008982","ORPHANET_ID__c":"ORPHA:75377","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia coroidea areolar central","Spanish_Description_Source__c":"ORPHA:75377","Spanish_Description__c":"Es un trastorno macular hereditario, que se presenta normalmente entre los 30 y los 60 años, y que se caracteriza por una gran área de atrofia en el centro de la mácula y la pérdida o ausencia de fotorreceptores, epitelio pigmentario de la retina y coriocapilares en esa área, lo que da lugar a una disminución progresiva de la agudeza visual.","Spanish_Disease_Name__c":"distrofia coroidea areolar central","Spanish_GARD_Synonym__c":null,"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":"A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.","Curated_Disease_Description_Source__c":"MONDO:0008982","GARD_Synonym__c":"areolar atrophy of the macula; cacd; central areolar choroidal sclerosis; choroidal dystrophy","Name":"Central areolar choroidal dystrophy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:75377"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010049","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1536451","Source__c":"C1536451","Xref__c":"C1536451"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS215500","Source__c":"MONDO:0008982","Xref__c":"OMIMPS:215500"},{"URL__c":"https://www.orpha.net/en/disease/detail/75377","Source__c":"C1536451; MONDO:0008982; ORPHA:75377","Xref__c":"ORPHA:75377"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=312918002","Source__c":"MONDO:0008982","Xref__c":"312918002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=283932","Source__c":"C1536451","Xref__c":"MEDGEN:283932"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=231996009","Source__c":"C1536451; MONDO:0008982","Xref__c":"231996009"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/H31.22","Source__c":"MONDO:0008982","Xref__c":"H31.22"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008982","Source__c":"GARD:0010049","Xref__c":"MONDO:0008982"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRPH2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prph2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GUCA1A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GUCY2D","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gucy2d","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:75377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030615","HPO_Name__c":"Foveal photoreceptor outer segment loss on macular OCT","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:75377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007924","HPO_Synonym__c":"Slow decrease in sharpness of vision; Subacute deterioration of visual acuity","HPO_Name__c":"Slow decrease in visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the capillary lamina of choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030491","HPO_Name__c":"Choriocapillaris atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Discrete areas of pallor in which the pigment epithelium, choriocapillaris and choroidal pigment are absent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007980","HPO_Name__c":"Absent retinal pigment epithelium","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75377","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:75377","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:75377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting) of the choroid and retinal layers of the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000533","HPO_Synonym__c":"Chorioretinal degeneration; Chorioretinal thinning","HPO_Name__c":"Chorioretinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in the Bruch membrane of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011510","HPO_Name__c":"Drusen","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007814","HPO_Synonym__c":"Focal hypopigmentation of the retinal pigment epithelium; Retinal pigment epithelium irregularity; RPE irregularity; RPE mottling; Salt and pepper retinal pigmentation; Salt and pepper retinopathy","HPO_Name__c":"Retinal pigment epithelial mottling","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75377","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030631","HPO_Name__c":"Hyperautofluorescent macular lesion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75377","HPO_Frequency__c":"Frequent (30-79%)","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:75377","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:75377","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031152","HPO_Synonym__c":"FTMH","HPO_Name__c":"Full-thickness macular hole","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75377","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:75377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030629","HPO_Name__c":"Perifoveal ring of hyperautofluorescence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75377","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007894","HPO_Synonym__c":"Decreased fundus pigmentation; Depigmented fundus; Hypopigmentation of the fundus","HPO_Name__c":"Fundus hypopigmentation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Vascular Medicine"],"Account":["Retinal"]},"synonyms":["areolar atrophy of the macula"," cacd"," central areolar choroidal sclerosis"," choroidal dystrophy"]}