{"orpha":75377,"name":"Central areolar choroidal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Areolar atrophy of the macula","CACD","Central areolar choroidal sclerosis"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75377/","orphanet_url":"https://www.orpha.net/en/disease/detail/75377","names":{"fr":{"name":"Dystrophie centrale aréolaire de la choroïde","synonyms":["Atrophie aréolaire maculaire","Sclérose centrale aréolaire de la choroïde"],"definition":"Maladie maculaire héréditaire rare, se présentant généralement entre l'âge de 30 et 60 ans, caractérisée par une large zone d'atrophie au centre de la macula et la perte ou l'absence de photorécepteurs, d'épithélium pigmentaire rétinien et de choriocapillaires, causant une diminution progressive de l'acuité visuelle."},"de":{"name":"Aderhautdystrophie, areoläre zentrale","synonyms":["Arteriosklerose der Aderhaut","CACD","Choroidea-Dystrophie, zentrale areoläre"],"definition":"Eine erbliche Makulaerkrankung, die sich in der Regel im Alter zwischen 30 und 60 Jahren manifestiert und durch eine großflächige Atrophie im Zentrum der Makula sowie den Verlust oder das Fehlen von Photorezeptoren, retinalem Pigmentepithel und Choriokapillaris in diesem Bereich gekennzeichnet ist, was zu einer fortschreitenden Abnahme der Sehschärfe führt."},"es":{"name":"Distrofia coroidea areolar central","definition":"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."},"it":{"name":"Distrofia coroidale centrale areolare","synonyms":["Atrofia areolare maculare","CACD","Sclerosi coroidale centrale areolare"],"definition":"La distrofia areolare centrale della coroide (CACD) è una malattia maculare ereditaria, che di solito esordisce tra i 30 e i 60 anni; è caratterizzata da una vasta area di atrofia nel centro della macula e dalla perdita o dall'assenza dei fotorecettori, presenza in quest'area di epitelio pigmentato retinico e coriocapillare, che provoca una diminuzione progressiva dell'acuità visiva."},"nl":{"name":"Centrale areolaire choroïdale dystrofie","synonyms":["Areolaire atrofie van macula","CACD","Centrale areolaire choroïdale sclerose"],"definition":"Een hereditaire aandoening van macula, meestal met een aanvangsleeftijd tussen 30-60 jaar, en gekenmerkt door een groot gebied van atrofie in het midden van macula en verlies of afwezigheid van fotoreceptoren, retinaal pigmentepitheel en lamina choroidocapillaris in dit gebied, wat resulteert in progressieve afname van gezichtsscherpte."},"pt":{"name":"Distrofia da coróide central areolar","synonyms":["CACD","Esclerose da coróide"]},"pl":{"name":"Centralna otoczkowa dystrofia błony naczyniowej","synonyms":["CACD","Centralne otoczkowe stwardnienie błony naczyniowej","Otoczkowa atrofia plamki"]},"cs":{"name":"Centrální areolární choroidální dystrofie","synonyms":["Areolární atrofie makuly","CACD","Centrální areolární choroideální skleróza"]},"uk":{"name":"Центральна ареолярна хоріоїдальна дистрофія","synonyms":["Ареолярна атрофія макули","CACD","Центральний ареолярний хоріосклероз"],"definition":"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."},"zh":{"name":"中心性晕轮状脉络膜营养不良","synonyms":["中央晕轮状脉络膜硬化"]},"tr":{"name":"Santral areolar koroidal distrofi","synonyms":["CACD","Makulanın areolar atrofisi","Santral areolar koroidal skleroz"]}},"xrefs":[{"source":"OMIM","code":"215500","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"613105","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613144","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H31.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"9B61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2018537024"},{"source":"MONDO","code":"0008982","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535358","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1536451","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10049","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717336,"name":"Rare genetic isolated progressive predominantly macular disorder","classifications":[156]},{"orpha":716432,"name":"Rare isolated progressive predominantly macular disorder","classifications":[189]}],"children":[],"genes":[{"symbol":"GUCA1A","name":"guanylate cyclase activator 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"28125083[PMID]","hgnc":"4678","ensembl":"ENSG00000048545","omim":"600364","loci":["6p21.1"]},{"symbol":"GUCY2D","name":"guanylate cyclase 2D, retinal","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22695961[PMID]","hgnc":"4689","ensembl":"ENSG00000132518","omim":"600179","loci":["17p13.1"]},{"symbol":"PRPH2","name":"peripherin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14557183[PMID]","hgnc":"9942","ensembl":"ENSG00000112619","omim":"179605","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.33,"area":"France","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-05","source":"28125083[PMID]_22003107[PMID]_19243827[PMID]","terms":[{"hpo":"HP:0031152","label":"Full-thickness macular hole","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030631","label":"Hyperautofluorescent macular lesion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030615","label":"Foveal photoreceptor outer segment loss on macular OCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007894","label":"Hypopigmentation of the fundus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007401","label":"Macular atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007924","label":"Slow decrease in visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007980","label":"Absent retinal pigment epithelium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030491","label":"Choriocapillaris atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000533","label":"Chorioretinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011510","label":"Drusen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030629","label":"Perifoveal ring of hyperautofluorescence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007814","label":"Retinal pigment epithelial mottling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007641","label":"Dyschromatopsia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Very rare (<4-1%)","criteria":null}]}}