{"orpha":251295,"name":"Pigmented paravenous retinochoroidal atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PPRCA"],"definition":"Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251295/","orphanet_url":"https://www.orpha.net/en/disease/detail/251295","names":{"fr":{"name":"Atrophie rétino-choroïdienne paraveineuse pigmentée","synonyms":["PPRCA"],"definition":"L'atrophie rétino-choroïdienne paraveineuse pigmentée est une maladie rétinienne rare, habituellement bilatérale et symétrique, caractérisée par une atrophie choriorétinienne non progressive ou lentement progressive, des changements pigmentaires péripapillaires et l'accumulation d'une pigmentation de spicules osseux le long des veines rétiniennes. Elle est généralement asymptomatique, ou peut se manifester par une vision légèrement floue."},"de":{"name":"Pigmentierte paravenöse retinochoroidale Atrophie","synonyms":["PPRCA"]},"es":{"name":"Atrofia coriorretiniana pigmentada paravenosa","synonyms":["PPRCA"],"definition":"Es una enfermedad retiniana poco frecuente, por lo general bilateral y simétrica, caracterizada por atrofia coriorretiniana no progresiva o de progresión lenta, cambios pigmentarios peripapilares y acúmulo de espículas de pigmento a lo largo de las venas retinianas y que suele ser asintomático o puede asociar visión borrosa leve."},"it":{"name":"Atrofia retinocoroidea paravenosa pigmentata","synonyms":["PPRCA"],"definition":"L'atrofia retinocoroidea paravenosa pigmentata (PPRCA) è una malattia rara della retina, di solito bilaterale e simmetrica, caratterizzata da atrofia corioretinica non progressiva o a progressione lenta, alterazioni della pigmentazione peripapillare e accumulo della pigmentazione sotto forma di ''corpuscoli ossei'' lungo le vene della retina; di solito la malattia è asintomatica, ma può esordire con un lieve annebbiamento della vista."},"nl":{"name":"Gepigmenteerde paraveneuze retinochoroïdale atrofie","synonyms":["PPRCA"],"definition":"Gepigmenteerde paraveneuze retinochoroïdale atrofie (PPRCA) is een zeldzame, doorgaans bilaterale en symmetrische retinale ziekte die gekarakteriseerd wordt door niet-progressieve of traag progressieve chorioretinale atrofie, peripapillaire pigmentveranderingen en accumulatie van ''botcel''-pigmentatie langs de aders van de retina, en die meestal asymptomatisch is of zich manifesteert met mild troebel zicht."},"pt":{"name":"Atrofia coriorretiniana paravenosa pigmentada","synonyms":["PPRCA"]},"pl":{"name":"Barwnikowy okołożylny zanik siatkówkowo-naczyniówkowy","synonyms":["PPRCA"]},"cs":{"name":"Pigmentovaná paravenózní retinochoroidální atrofie","synonyms":["PPRCA"]},"uk":{"name":"Пігментна паравенозна ретинохороїдальна атрофія","synonyms":["PPRCA"],"definition":"Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision."},"zh":{"name":"色素性视网膜脉络膜静脉旁萎缩","synonyms":["PPRCA"],"definition":"色素性静脉旁视网膜脉络膜萎缩(PPRCA)是一种罕见的、常见的双侧对称性视网膜疾病，以非进行性或缓慢进行性脉络膜视网膜萎缩、视乳头周围色素改变和沿视网膜静脉堆积的“骨细胞样”色素沉着为特征，通常无症状或轻度视力模糊。"},"tr":{"name":"Pigmentli paravenöz retinokoroidal atrofi","synonyms":["PPRCA"]}},"xrefs":[{"source":"OMIM","code":"172870","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1278139412"},{"source":"MONDO","code":"0008246","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566801","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868310","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717311,"name":"Rare genetic isolated non-progressive predominantly chorioretinal disorder","classifications":[156]},{"orpha":716296,"name":"Rare isolated non-progressive predominantly chorioretinal disorder","classifications":[189]}],"children":[],"genes":[{"symbol":"CRB1","name":"crumbs cell polarity complex component 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15623792[PMID]","hgnc":"2343","ensembl":"ENSG00000134376","omim":"604210","loci":["1q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"24926324[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24926324[PMID]"}],"phenotypes":null}