{"orpha":329211,"name":"Autosomal dominant neovascular inflammatory vitreoretinopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADNIV"],"definition":"A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329211/","orphanet_url":"https://www.orpha.net/en/disease/detail/329211","names":{"fr":{"name":"Vitréorétinopathie inflammatoire néovasculaire autosomique dominante","synonyms":["ADNIV"],"definition":"Dégénérescence vitréorétinienne rare d'origine génétique, caractérisée par une vitréorétinopathie lentement progressive apparaissant au cours de la 2<sup>e</sup> ou de la 3<sup>e</sup> décennie de la vie. La maladie se présente d'abord sous la forme d'une uvéite auto-immune avec une diminution de l'onde b à l'éctrorétinogramme, puis évolue vers une dégénérescence des photorécepteurs, une hémorragie du vitré, un oedème maculaire cystoïde, une néovascularisation rétinienne, une fibrose intraoculaire, un glaucome secondaire et un décollement de la rétine conduisant à l'atrophie du globe oculaire et à la cécité complète."},"de":{"name":"Vitreoretinopathie, inflammatorische neovaskuläre, autosomal-dominante","synonyms":["ADNIV"]},"es":{"name":"Vitreorretinopatía inflamatoria neovascular autosómica dominante","synonyms":["ADNIV"],"definition":"Es una degeneración vitreorretiniana, genética y poco frecuente, caracterizada por vitreorretinopatía lentamente progresiva de inicio en la segunda o tercera décadas de la vida. La enfermedad se presenta inicialmente como uveítis autoinmune con reducción de la onda ''b'' en la electrorretinografía, y progresa con la degeneración de los fotorreceptores, hemorragia vítrea, edema macular quístico, neovascularización retiniana, fibrosis intraocular, glaucoma secundario y desprendimiento de retina que conducen a ptisis y ceguera completa."},"it":{"name":"Vitreoretinopatia infiammatoria neovascolare autosomica dominante","synonyms":["ADNIV"],"definition":"La vitreoretinopatia infiammatoria neovascolare autosomica dominante è una degenerazione vitreoretinica rara, di origine genetica, caratterizzata da vitreoretinopatia a progressione lenta, che esordisce nella seconda o terza decade di vita, inizialmente sotto forma di uveite autoimmune, associata ad una riduzione delle onde-b all'elettroretinogramma, che progredisce verso la degenerazione dei fotorecettori, l'emorragia del vitreo, l'edema maculare cistoide, la neovascolarizzazione della retina, la fibrosi intraoculare, il glaucoma secondario e il distacco della retina, con conseguente ftisi e cecità completa."},"nl":{"name":"Autosomaal dominante neovasculaire inflammatoire vitreoretinopathie","synonyms":["ADNIV"],"definition":"Een zeldzame, genetische vitreoretinale degeneratie, gekarakteriseerd door progressieve vitreoretinopathie met een aanvang tijdens het tweede of derde levensdecennium. De ziekte presenteert zich initieel als auto-immune uveïtis met reductie van de b-golf bij elektroretinografie, en evolueert met ontwikkeling van degeneratie van fotoreceptoren, glasvochtbloedingen, cystoïd macula-oedeem, retinale neovascularisatie, intraoculaire fibrose, secundair glaucoom, en netvliesloslating die leidt tot phtisis bulbi en volledige blindheid."},"pt":{"name":"Vitreorretinopatia neovascular inflamatória autossómica dominante"},"pl":{"name":"Autosomalna dominująca neowaskularna witreoretinopatia zapalna","synonyms":["ADNIV"],"definition":"*Autosomalna dominująca neowaskularna witreoretinopatia zapalna jest rzadką, genetycznie uwarunkowaną degeneracją siatkówki i ciała szklistego, która charakteryzuje się powoli postępującą witreoretinopatią o początku w drugiej lub trzeciej dekadzie życia. Choroba początkowo przebiega pod postacią autoimmunologicznego zapalenia błony naczyniowej oka ze zmniejszeniem fali B w elektroretinografii, a następnie postępuje wraz z pojawieniem się zwyrodnienia fotoreceptorów, krwotoków do ciała szklistego, torbielowatego obrzęku plamki żółtej, neowaskularyzacji siatkówki, zwłóknienia wewnątrzgałkowego, jaskry wtórnej i odwarstwienia siatkówki, co prowadzi do zaniku gałki ocznej i całkowitej ślepoty."},"cs":{"name":"Autozomálně dominantní neovaskulární inflamatorní vitreoretinopatie","synonyms":["ADNIV"]},"uk":{"name":"Аутосомно-домінантна неоваскулярна запальна вітреоретинопатія","synonyms":["ADNIV"],"definition":"A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness."},"zh":{"name":"新生血管性炎性玻璃体视网膜病变","synonyms":["ADNIV"],"definition":"一种罕见的遗传性玻璃体视网膜变性，特征为缓慢进行的玻璃体视网膜病变，发病年龄在20岁至30岁。该病最初表现为自身免疫性葡萄膜炎，视网膜电图显示b波减少，随着光感受器变性、玻璃体出血、黄斑囊样水肿、视网膜新生血管形成、眼内纤维化、继发性青光眼和视网膜脱离发展为肺结核和完全失明。"},"tr":{"name":"Otozomal dominant neovasküler inflamatuar vitreoretinopati","synonyms":["ADNIV"]}},"xrefs":[{"source":"OMIM","code":"193235","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B72.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0100450","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4721549","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717345,"name":"Rare genetic isolated progressive retinal vasculopathy","classifications":[156]},{"orpha":716466,"name":"Rare isolated progressive retinal vasculopathy","classifications":[189]},{"orpha":716441,"name":"Rare isolated progressive vitreoretinopathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CAPN5","name":"calpain 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23055945[PMID]","hgnc":"1482","ensembl":"ENSG00000149260","omim":"602537","loci":["11q13.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":99.0,"area":"Worldwide","status":"Validated","source":"23055945[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}