{"orpha":466718,"name":"Martinique crinkled retinal pigment epitheliopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MCRPE"],"definition":"A rare, genetic retinal disease characterized by characteristic \"dried-out soil\" fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466718/","orphanet_url":"https://www.orpha.net/en/disease/detail/466718","names":{"fr":{"name":"Epithéliopathie pigmentée rétinienne froissée de Martinique","definition":"Maladie rétinienne génétique rare caractérisée par un fond d'oeil à aspect typique de « sol séché et craquelé » dû à des lignes blanchâtres profondes et diffuses dans la macula, s'étendant jusqu'à l'épithélium pigmentaire rétinien, ce dernier étant légèrement surélevé et ondulé. Peut être associée à une exsudation maculaire, et parfois affecter la membrane de Bruch. Dans certains cas, on observe des dépôts pigmentaires nummulaires périphériques, associés à la cécité. Les lésions s'agrandissent avec le temps, et s'étendent généralement en confluant vers la macula. Les complications peuvent inclure une vasculopathie choroïdienne polypoïdale, une néovascularisation choroïdienne ou une cicatrice maculaire fibreuse atrophique qui peut entraîner une baisse de l'acuité visuelle avec le temps."},"de":{"name":"Martinique zerknitterte retinale Pigmentepitheliopathie","synonyms":["MCRPE"],"definition":"Eine seltene genetisch bedingte Netzhauterkrankung, die durch ein charakteristisches Fundusmuster (ähnlich \"ausgetrockneter Erde\") gekennzeichnet ist, das sich durch diffuse tiefe weiße Linien in der Makula bis auf Höhe des retinalen Pigmentepithels auszeichnet, das leicht erhaben und geriffelt ist. Es kann zu einer Makulaexsudation kommen, und die Bruch'sche Membran kann ebenfalls betroffen sein. Gelegentlich werden periphere nummuläre Pigmentveränderungen beobachtet, die mit einer Erblindung einhergehen. Die Läsionen vergrößern sich mit der Zeit und konfluieren bevorzugt in der Makula. Komplikationen können polypoidale choroidale Vaskulopathie, choroidale Neovaskularisation oder atrophische fibröse Makulanarben sein, die mit der Zeit zu einer Abnahme der Sehschärfe führen können."},"es":{"name":"Epiteliopatía pigmentaria retiniana arrugada de Martinica","synonyms":["MCRPE"],"definition":"Es una enfermedad de la retina genética y poco frecuente caracterizada por un patrón característico de fondo de ojo en \"suelo agrietado\" por la presencia de líneas blancas profundas difusas en la mácula, hasta el nivel del epitelio pigmentario de la retina, que está ligeramente elevado y ondulado. Puede asociar exudación macular y la membrana de Bruch también puede verse afectada. Ocasionalmente, se observan cambios pigmentarios numulares periféricos asociados a ceguera. Las lesiones se agrandan con el tiempo, preferentemente con una extensión y confluencia macular. Las complicaciones pueden incluir vasculopatía coroidea polipoidea, neovascularización coroidea o cicatrización macular fibrosa atrófica que pueden derivar en una disminución de la agudeza visual con el tiempo."},"it":{"name":"Epiteliopatia increspata del pigmento retinico della Martinica","definition":"Si tratta di una retinopatia genetica rara, caratterizzata da un aspetto tipico del fondo oculare che ricorda un ''terreno arido e disseccato'' a causa della presenza di linee bianche profonde diffuse nella macula, a livello dell'epitelio pigmentato della retina, che risulta leggermente sollevato e increspato. Può associarsi ad essudazione maculare, con un eventuale interessamento della membrana di Bruch. Occasionalmente si osservano alterazioni pigmentate nummulari periferiche associate a cecità. Con il tempo le lesioni aumentano di dimensione e si estendono confluendo verso la macula. Le complicanze comprendono la vasculopatia polipoide della coroide, la neovascolarizzazione coroidale e la formazione di cicatrici atrofiche fibrose nella macula, che con il tempo possono causare una riduzione dell'acuità visiva."},"nl":{"name":"Kreukelige retinale pigmentepitheliopathie van Martinique","synonyms":["MCRPE"],"definition":"Een zeldzame, genetische aandoening van retina, gekarakteriseerd door fundus oculi met typisch \"uitgedroogde aarde\" patroon als gevolg van diffuse diepe witte lijnen in macula, tot aan retinaal pigmentepitheel, dat licht verheven en gerimpeld is. Maculaire exsudatie kan geassocieerd zijn, en membraan van Bruch kan ook aangetast zijn. Occasioneel worden perifere nummulaire pigmentveranderingen waargenomen, geassocieerd met blindheid. De laesies worden mettertijd groter, voornamelijk met maculaire extensie en samenvloeiing. Mogelijke complicaties zijn onder meer polypoïdale choroïdale vasculopathie, choroïdale neovascularisatie, of atrofische fibreuze maculaire littekenvorming die na verloop van tijd kan leiden tot verminderde gezichtsscherpte."},"pt":{"name":"Epiteliopatia retiniana enrugada da Martinica"},"pl":{"name":"Pomarszczona epiteliopatia barwnikowa siatkówki z Martyniki","synonyms":["MCRPE"]},"cs":{"name":"Zvrásněná pigmentová epitelopatie sítnice ostrova Martinik","synonyms":["MCRPE"]},"uk":{"name":"Зморшкувата пігментна епітеліопатія сітківки Мартиніки","synonyms":["MCRPE"],"definition":"A rare, genetic retinal disease characterized by characteristic \"dried-out soil\" fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time."},"zh":{"name":"马提尼克褶皱性视网膜色素上皮病变","synonyms":["MCRPE"],"definition":"一种罕见的遗传性视网膜疾病，由于黄斑部弥漫性深白线至视网膜色素上皮水平，略微隆起，呈波纹状，具有特征性的 失水土壤 眼底形态。可伴有黄斑渗液，玻璃膜也可能受到影响。偶尔可观察到周围木质部色素改变，与失明有关。病变会随着时间的推移而扩大，黄斑优先延伸和汇合。并发症可能包括多发性脉络膜血管病变、脉络膜新生血管化或萎缩性纤维性黄斑瘢痕，可导致视力长期下降。"},"tr":{"name":"Martinik buruşuk retina pigment epiteliyopatisi","synonyms":["MCRPE"]}},"xrefs":[{"source":"OMIM","code":"617111","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014920","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310713","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":"MAPKAPK3","name":"MAPK activated protein kinase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26744326[PMID]","hgnc":"6888","ensembl":"ENSG00000114738","omim":"602130","loci":["3p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"23370609[PMID]_26744326[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23370609[PMID]_26744326[PMID]"}],"phenotypes":null}