{"orpha":209867,"name":"Isolated ocular Stickler syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant rhegmatogenous retinal detachment"],"definition":"A rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209867/","orphanet_url":"https://www.orpha.net/en/disease/detail/209867","names":{"fr":{"name":"Syndrome de Stickler oculaire isolé","synonyms":["Décollement de la rétine rhegmatogène autosomique dominant"],"definition":"Forme rare, héréditaire et non syndromique de vitréorétinopathie caractérisée par un décollement de la rétine dû à des anomalies vitréennes, souvent accompagné d'une anomalie de la réfraction. Aucun autre signe clinique ou symptôme du syndrome de Stickler n'est présent."},"de":{"name":"Stickler-Syndrom, isoliertes okuläres","synonyms":["Netzhautablösung, rhegmatogene, autosomal-dominante"]},"es":{"name":"Síndrome de Stickler ocular aislado","synonyms":["Desprendimiento de retina regmatógeno autosómico dominante"],"definition":"Es un tipo de vitreorretinopatía no sindrómica, hereditaria y poco frecuente, caracterizada por desgarros de la retina debidos a alteraciones del vítreo, y acompañada, por lo habitual, de errores refractivos. No hay otros signos o síntomas del síndrome de Stickler presentes."},"it":{"name":"Sindrome oculare di Stickler isolata","synonyms":["Distacco regmatogeno della retina autosomico dominante"],"definition":"Il distacco regmatogeno della retina autosomico dominante è una forma ereditaria rara non sindromica di vitreoretinopatia, caratterizzata da lacrime retiniche secondarie ad anomalie del vitreo con frequenti errori refrattivi. Non si osservano altri segni clinici della sindrome di Stickler."},"nl":{"name":"Geïsoleerd oculair syndroom van Stickler","synonyms":["Autosomaal dominante regmatogene netvliesloslating"],"definition":"Een zeldzame, erfelijke, niet-syndromale vorm van vitreoretinopathie, gekarakteriseerd door netvliesscheuren door een abnormaal glasachtig lichaam, en doorgaans met refractiefouten. Er zijn geen andere tekenen of symptomen van syndroom van Stickler aanwezig."},"pt":{"name":"Deslocamento da retina regmatogénico autossómico dominante"},"pl":{"name":"Autosomalne dominujące otworopochodne odwarstwienie siatkówki","synonyms":["Autosomal dominant rhegmatogenous retinal detachment"],"definition":"*Autosomalne dominujące przedarciowe odwarstwienie siatkówki jest rzadką, dziedziczną, niesyndromiczną postacią witreoretinopatii, która charakteryzuje się przedarciem siatkówki wskutek nieprawidłowości ciała szklistego, z często towarzyszącą wadą refrakcji. Nie występują żadne inne przedmiotowe i podmiotowe objawy zespołu Sticklera."},"cs":{"name":"Autozomálně dominantní rhegmatogenní odloučení sítnice","synonyms":["Autosomal dominant rhegmatogenous retinal detachment"]},"uk":{"name":"Аутосомно-домінантне регматогенне відшарування сітківки","definition":"A rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present."},"zh":{"name":"常染色体显性遗传孔源性视网膜脱离","definition":"常染色显性遗传性孔源性视网膜脱落是一种罕见的遗传性非综合征性玻璃体视网膜病，由玻璃体异常所致，其主要临床为视网膜撕裂，屈光不正，没有其他症状或表现为Stickler综合征。"},"tr":{"name":"Otozomal dominant regmatojen retina dekolmanı"}},"xrefs":[{"source":"OMIM","code":"609508","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H33.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B73.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1308905567"},{"source":"MONDO","code":"0016202","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563710","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836081","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":716441,"name":"Rare isolated progressive vitreoretinopathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15671297[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":38.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}