{"orpha":435930,"name":"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435930/","orphanet_url":"https://www.orpha.net/en/disease/detail/435930","names":{"fr":{"name":"Syndrome de papille optique colobomateuse-atrophie maculaire-choriorétinopathie","definition":"Maladie ophtalmique rare d'origine génétique, caractérisée par des malformations du disque optique (disques optiques colobomateux bilatéraux, vaisseaux rétiniens émergeant du disque optique périphérique) et une atrophie maculaire. Une atrophie choriorétinienne péripapillaire et des colobomes choriorétiniens et iriens ont également été décrits. Les patients présentent un nystagmus horizontal et une mauvaise acuité visuelle."},"de":{"name":"Kolobomatöser Sehnervenkopf-Makula-Atrophie-Chorioretinopathie-Syndrom","definition":"Eine seltene genetisch bedingte Augenerkrankung, die durch Anomalien des Sehnervenkopfes (bilaterale kolobomatöse Sehnervenköpfe, Netzhautgefäße, die aus dem peripheren Sehnervenkopf entspringen) und Makulaatrophie gekennzeichnet ist. Auch eine peripapilläre chorioretinale Atrophie sowie chorioretinale und Iris-Kolobome sind beschrieben worden. Die Patienten weisen einen horizontalen Nystagmus und eine geringe Sehschärfe auf."},"es":{"name":"Síndrome de disco óptico colobomatoso-atrofia macular-coriorretinopatía","definition":"Es una enfermedad ocular de base genética poco frecuente caracterizada por anomalías del disco óptico (disco óptico colobomatoso bilateral, vasos retinianos procedentes de la periferia del disco óptico) y atrofia macular. También se ha descrito atrofia coriorretiniana peripapilar y coloboma de iris y coriorretiniano. Los pacientes se presentan con nistagmo horizontal y escasa agudeza visual."},"it":{"name":"Sindrome coloboma del disco ottico-atrofia maculare-corioretinopatia","definition":"Si tratta di una malattia genetica rara dell'occhio, caratterizzata da anomalie del disco ottico (coloboma bilaterale del disco ottico, vasi retinici che originano dal disco ottico periferico) e da atrofia della macula. I pazienti possono presentare anche atrofia corioretinica peripapillare e coloboma corioretinico e dell'iride. La malattia si associa a nistagmo orizzontale e scarsa acuità visiva."},"nl":{"name":"Colobomateuze optische papil - maculaire atrofie - chorioretinopathie-syndroom","definition":"Een zeldzame, genetische aandoening van oog, gekarakteriseerd door anomalieën van optische papil (bilaterale colobomateuze papil, retinale bloedvaten die ontspringen in papil) en atrofie van macula. Peripapillaire chorioretinale atrofie, chorioretinaal coloboom en coloboom van iris werden ook reeds beschreven. Patiënten vertonen horizontale nystagmus en slechte gezichtsscherpte."},"pt":{"name":"Síndrome de anomalias colobomatosas do disco óptico-atrofia macular-coriorretinopatia"},"pl":{"name":"Zespół szczeliny tarczy nerwu wzrokowego, zaniku plamki i chorioretinopatii"},"cs":{"name":"Syndrom zahrnující kolobomatózní discus opticus, makulární atrofii a chorioretinopatii"},"uk":{"name":"Синдром колобоматозного диска зорового нерва-макулярна атрофія-хоріоретинопатія","definition":"A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity."},"zh":{"name":"球状视盘-黄斑萎缩-脉络膜视网膜病变综合征"},"tr":{"name":"Kolobomatöz optik disk-maküler atrofi-korioretinopati sendromu"}},"xrefs":[{"source":"OMIM","code":"212550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q14.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008927","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225424","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519345,"name":"Rare disorder with optic disc malformation","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"SIX6","name":"SIX homeobox 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24702266[PMID]_23167593[PMID]","hgnc":"10892","ensembl":"ENSG00000184302","omim":"606326","loci":["14q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24702266[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24702266[PMID]"}],"phenotypes":null}