{"orpha":99002,"name":"Reticular dystrophy of the retinal pigment epithelium","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99002/","orphanet_url":"https://www.orpha.net/en/disease/detail/99002","names":{"fr":{"name":"Dystrophie réticulée de l'épithélium pigmentaire rétinien","definition":"Dystrophie rare de l'épithélium pigmentaire rétinien d'évolution progressive, caractérisée par la présence d'un motif réticulaire hyperpigmenté bilatéral ressemblant à un filet de pêche noué, entraînant une perte de vision progressive et lente qui devient généralement apparente à un âge avancé. La maladie est parfois associée à un staphylome scléral, à une néovascularisation choroïdienne, à un strabisme convergent, à une sphérophakie avec myopie et luxation du cristallin, et à une atrophie partielle de l'iris."},"de":{"name":"Netzhautdystrophie des retinalen Pigmentepithels","definition":"Die Netzhautdystrophie des retinalen Pigmentepithels ist eine figurierte Dystrophie des retinalen Pigmentepithels (s. dort) mit progressivem Verlauf, charakterisiert durch das Vorhandensein eines bilateralen hyperpigmentierten Retikulums, ähnlich einem Fischernetz mit Knoten, die zu einem langsam fortschreitenden Sehverlust führt, der sich oft erst im Alter zeigt. Die Netzhautdystrophie des retinalen Pigmentepithels ist manchmal mit einem skleralem Staphylom, choroidaler Neovaskularisation, einem konvergenten Strabismus, einer Sphärophakie mit Myopie und luxierten Linsen, und partieller Atrophie der Iris assoziiert."},"es":{"name":"Distrofia reticular del epitelio pigmentario de la retina","definition":"Es una distrofia en patrón del epitelio pigmentario de la retina de curso progresivo, poco frecuente. Está caracterizada por la presencia de un patrón reticular con hiperpigmentación bilateral similar a una red de pescar con nudos, que resulta en pérdida de visión lenta y progresiva que, por lo general, sólo se hace patente a una edad avanzada. Este trastorno se asocia, en ocasiones, a estafiloma escleral, neovascularización coroidea, estrabismo convergente, esferofaquia con miopía y luxación de cristalino, y atrofia parcial del iris."},"it":{"name":"Distrofia reticolare dell'epitelio pigmentato retinico","definition":"La distrofia reticolare dell'epitelio pigmentato della retina è una distrofia caratteristica dell'epitelio pigmentato retinico (si veda questo termine), a decorso progressivo. È caratterizzata dalla presenza di un disegno reticolare iperpigmentato bilaterale, che ricorda una rete da pesca annodata. Esita nella progressiva perdita della vista ad evoluzione lenta, che di solito si evidenzia in tarda età. La distrofia reticolare dell'epitelio pigmentato della retina si può associare allo stafiloma sclerale, alla neovascolarizzazione della coroide, allo strabismo convergente, alla sferofachia con miopia, alla lussazione del cristallino e all'atrofia parziale dell'iride."},"nl":{"name":"Reticulaire dystrofie van retinaal pigmentepitheel","definition":"Een zeldzame patroondystrofie van retinaal pigmentepitheel, gekarakteriseerd door een progressief verloop en de aanwezigheid van een bilateraal gehyperpigmenteerd reticulair patroon dat lijkt op een visnet met knopen, en resulterend in een traag progressief functieverlies van het zicht dat vaak pas merkbaar wordt op latere leeftijd. Deze aandoening is soms geassocieerd met sclerastafyloom, choroïdale neovascularisatie, convergent strabisme, sferofakie met myopie en lensluxatie, en partiële atrofie van iris."},"pt":{"name":"Distrofia reticular do epitélio pigmentar da retina"},"pl":{"name":"Dystrofia siateczkowata nabłonka barwnikowego siatkówki"},"cs":{"name":"Retikulární dystrofie retinálního pigmentového epitelu"},"uk":{"name":"Ретикулярна дистрофія пігментного епітелію сітківки","definition":"A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris."},"zh":{"name":"视网膜色素上皮网状营养不良","definition":"该病是一种罕见的视网膜色素上皮营养不良，以双侧色素沉着的类似渔网的网状图案为特征，通常在老年时出现缓慢进行性的视力丧失。这种疾病有时与巩膜葡萄肿、脉络膜新生血管、内斜视、伴有近视和晶状体脱位的球形晶状体，以及部分虹膜萎缩有关。"},"tr":{"name":"Retina pigment epitelinin retiküler distrofisi"}},"xrefs":[{"source":"OMIM","code":"179840","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"267800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617175","qualifier":"BTNT","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":"index","validated":true,"icd11_uri":"878593681"},{"source":"MONDO","code":"0009979","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566721","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867332","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":63454,"name":"Pattern dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"RCBTB1","name":"RCC1 and BTB domain containing protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27486781[PMID]","hgnc":"18243","ensembl":"ENSG00000136144","omim":"607867","loci":["13q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Unknown"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"23619632[PMID]_27486781[PMID]_17563005[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"23619632[PMID]_27486781[PMID]_17563005[PMID]_ORPHANET"}],"phenotypes":null}