{"orpha":263347,"name":"MRCS syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome"],"definition":"MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263347/","orphanet_url":"https://www.orpha.net/en/disease/detail/263347","names":{"fr":{"name":"Syndrome MRCS","synonyms":["Syndrome de microcornée-dystrophie des cônes et des bâtonnets-cataracte-staphylome postérieur"],"definition":"Dystrophie rétinienne génétique rare caractérisée par une microcornée bilatérale, une dystrophie des cônes et des bâtonnets, des cataractes et un staphylome postérieur, en l'absence d'autres caractéristiques systémiques. La cécité nocturne est généralement la manifestation la plus fréquente et le nystagmus, le strabisme, l'astigmatisme et le glaucome par fermeture de l'angle peuvent y être associés. La détérioration progressive de l'acuité visuelle, due à une cataracte pulvérulente, entraîne une mauvaise vision allant de l'absence de perception de la lumière à 20/400."},"de":{"name":"MRCS-Syndrom","synonyms":["Mikrokornea - Zapfen-Stäbchen-Dystrophie -Katarakt - posteriores Staphylom"]},"es":{"name":"Síndrome MRCS","synonyms":["Microcórnea-distrofia de conos y bastones-cataratas-estafiloma posterior"],"definition":"El síndrome MRCS es un trastorno de distrofia retiniana, genético y poco frecuente, caracterizado por microcórnea bilateral, distrofia de conos y bastones, cataratas y estafiloma posterior, en ausencia de otros síntomas sistémicos. La característica clínica de presentación suele ser la ceguera nocturna asociada a otros hallazgos tales como nistagmus, estrabismo, astigmatismo y glaucoma de ángulo cerrado. El deterioro progresivo de la agudeza visual, debido a cataratas tipo pulverulentas, da lugar a una visión deficiente que varía desde la ausencia de percepción de la luz hasta una agudeza de 20/400."},"it":{"name":"Sindrome MRCS","synonyms":["Microcornea - distrofia dei coni e dei bastoncelli - cataratta - stafiloma posteriore"],"definition":"La sindrome MRCS è una distrofia genetica rara della retina, caratterizzata da microcornea bilaterale, distrofia dei coni e dei bastoncelli, cataratta e stafiloma posteriore, in assenza di altri segni clinici sistemici. La cecità notturna è il segno d'esordio caratteristico. Possono associarsi nistagmo, strabismo, astigmatismo e glaucoma ad angolo chiuso. Il deterioramento progressivo dell'acuità visiva, secondario alla cataratta pulverulente, esita in una compromissione della visione che va dalla mancata percezione della luce a 20/400."},"nl":{"name":"MRCS-syndroom","synonyms":["Microcornea - staaf-kegeldystrofie - cataract - posterieur stafyloom-syndroom"],"definition":"MRCS-syndroom is een zeldzame, genetische retinale dystrofie die gekarakteriseerd wordt door bilaterale microcornea, kegel-staafdystrofie, cataracten en posterieur stafyloom, in afwezigheid van andere systemische kenmerken. Nachtblindheid is doorgaans de presenterende manifestatie en nystagmus, strabisme, astigmatisme en gesloten hoek glaucoom zijn mogelijke geassocieerde bevindingen. Progressieve aftakeling van de gezichtsscherpte, als gevolg van pulverachtige cataracten, leidt tot ondermaats zicht gaande van geen lichtperceptie tot 20/400."},"pt":{"name":"Síndrome MRCS"},"pl":{"name":"Zespół MRCS","synonyms":["Mała rogówka - dystrofia czopków i pręcików - zaćma - garbiak tylny"],"definition":"*Zespół MRCS jest rzadkim, genetycznie uwarunkowaną dystrofią siatkówki, która charakteryzuje się obustronnie małą rogówką, dystrofią pręcików i czopków, zaćmą i garbiakiem tylnym, przy braku innych ogólnoustrojowych objawów. Zazwyczaj występuje ślepota nocna, której mogą towarzyszyć oczopląs, zez, astygmatyzm oraz jaskra z zamkniętym kątem przesączania. Postępujące pogorszenie ostrości wzroku wskutek zaćmy (z drobnoziarnistym zmętnieniem soczewki) prowadzi do pogorszenia widzenia: od braku postrzegania światła do wartości 20/400."},"cs":{"name":"MRCS syndrom","synonyms":["Syndrom zahrnující mikrokorneu, dystrofii tyčinek a čípků, katarakta a zadní stafylom"]},"uk":{"name":"Синдром MRCS","synonyms":["Синдром мікророгівки-стрижневої дистрофії рогівки-катарактальної стафіломи-задньої стафіломи"],"definition":"MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400."},"zh":{"name":"MRCS综合征","synonyms":["小角膜-视杆-视锥营养不良-白内障-后葡萄肿综合征"],"definition":"MRCS综合征是一种罕见的遗传性视网膜营养不良疾病，以双侧小角膜、视杆细胞营养不良、白内障和后巩膜葡萄肿为特征，缺乏其他系统特征。典型的临床表现为夜盲，伴有眼球震颤、斜视、散光和闭角型青光眼。粉末状白内障造成进行性视力下降，使得视力下降到无光感到20/400不等之间。"},"tr":{"name":"MRCS sendromu","synonyms":["Mikrokornea-çubuk-koni distrofi-katarakt-posterior stafiloma sendromu"]}},"xrefs":[{"source":"OMIM","code":"193220","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619082","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9E1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"392681472"},{"source":"MONDO","code":"0016979","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749856","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]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"BEST1","name":"bestrophin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15452077[PMID]","hgnc":"12703","ensembl":"ENSG00000167995","omim":"607854","loci":["11q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"16458719[PMID]_12543751[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16458719[PMID]_12543751[PMID]"}],"phenotypes":null}