{"orpha":251279,"name":"Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"],"definition":"Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251279/","orphanet_url":"https://www.orpha.net/en/disease/detail/251279","names":{"fr":{"name":"Syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique","synonyms":["Syndrome de nanophtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique"],"definition":"Anomalie rare, génétique et non syndromique du développement de l'oeil, caractérisée par l'association d'une microphtalmie postérieure, d'une dystrophie rétinienne compatible avec une rétinite pigmentaire, d'un fovéoschisis localisé et de drusen de la papille optique. Les patients présentent une forte hypermétropie, généralement une nyctalopie progressive et une acuité visuelle réduite débutant à l'âge adulte et, dans certains cas, un glaucome aigu par fermeture de l'angle."},"de":{"name":"Mikrophthalmie-Retinitis pigmentosa-Foveoschisis-Drusenpapille-Syndrom","synonyms":["Nanophthalmie-Retinitis pigmentosa-Foveoschisis-Optikusdrusen-Syndrom"]},"es":{"name":"Síndrome de microftalmia-retinosis pigmentaria-foveosquisis-drusas del disco óptico","synonyms":["Síndrome de nanoftalmia-retinosis pigmentaria-foveosquisis-drusen del disco óptico"],"definition":"El síndrome de microftalmia - retinosis pigmentaria - foveosquisis - drusas del disco óptico es un defecto no sindrómico del desarrollo ocular, genético y poco frecuente, caracterizado por la asociación de microftalmia posterior, distrofia retiniana compatible con retinitis pigmentosa, esquisis foveal localizada y drusas en el disco óptico. Los afectados presentan alta hipermetropía, nictalopía progresiva, generalmente de inicio en el adulto, y disminución de la agudeza visual y, en ocasiones, glaucoma de ángulo cerrado."},"it":{"name":"Associazione microftalmia, retinite pigmentosa, schisi della fovea e drusen del disco ottico","definition":"L'associazione tra la microftalmia, la retinite pigmentosa, la schisi della fovea e le drusen del disco ottico è un difetto non sindromico dello sviluppo dell'occhio, caratterizzato da microftalmia posteriore, distrofia della retina compatibile con la retinite pigmentosa, schisi localizzata della fovea e drusen del disco ottico. I pazienti presentano iperopia marcata, nictalopia progressiva, di solito ad esordio nell'età adulta, riduzione dell'acuità visiva e, occasionalmente, glaucoma ad angolo acuto."},"nl":{"name":"Microftalmie - retinitis pigmentosa - foveoschisis - drusenpapil-syndroom","synonyms":["Nanoftalmie - retinitis pigmentosa - foveoschisis - drusenpapil-syndroom"],"definition":"Microftalmie - retinitis pigmentosa - foveoschisis - drusen van de optische papil-syndroom is een zeldzaam, genetisch, niet-syndromaal ontwikkelingsdefect van het oog dat wordt gekarakteriseerd door de associatie van posterieure microftalmie, retinadystrofie compatibel met retinitis pigmentosa, gelokaliseerde foveale schisis, en drusen in de oogzenuwkop. Patiënten presenteren zich met hyperopie, meestal in de volwassenheid aanvangende progressieve nyctalopie en verminderde gezichtsscherpte, en, occasioneel, acuut hoek glaucoom."},"pt":{"name":"Síndrome de microftalmia-retinite pigmentosa-foveosquisis-drusas do disco óptico"},"pl":{"name":"Małoocze - zwyrodnienie barwnikowe siatkówki - rozszczep dołka - druzy tarczy nerwu wzrokowego","synonyms":["Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"],"definition":"*Zespół małoocze - zwyrodnienie barwnikowe siatkówki - rozszczep dołka - druzy tarczy nerwu wzrokowego jest rzadką, genetycznie uwarunkowaną, niesyndromiczną wadą rozwojową oczu, która charakteryzuje się występowaniem tylnego małoocza, dystrofii siatkówki współistniejącej ze zwyrodnieniem barwnikowym siatkówki, rozszczepem dołka i druzami tarczy nerwu wzrokowego. U chorych obserwuje się wysoką nadwzroczność, postępującą ślepotę nocną zwykle o początku w wieku dorosłym i obniżoną ostrość wzroku, a czasami także jaskrę z wąskim kątem przesączania."},"cs":{"name":"Syndrom zahrnující mikrooftalmii, retinitis pigmentosa, foveoschisis a drúzy zrakového nervu","synonyms":["Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"]},"uk":{"name":"Синдром мікрофтальмії-пігментного ретиніту-фовеошизис- друз диска зорового нерва","synonyms":["Синдром наноофтальмозу - пігментного ретиніту - фовеошизису - друзів диска зорового нерва"],"definition":"Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma."},"zh":{"name":"小眼症-色素性视网膜炎-黄斑劈裂-视神经盘玻璃疣综合征","synonyms":["真性小眼球-色素性视网膜炎-黄斑劈裂-视神经盘玻璃疣综合征"],"definition":"小眼-视网膜色素变性-黄斑劈裂-视盘玻璃疣综合征是一种罕见的遗传性非综合征性眼部发育缺陷疾病，其特征是伴有后部小眼、视网膜营养不良与视网膜色素变性、局限性黄斑劈裂和视盘玻璃疣。患者表现为高度远视，通常为成人起病的进行性夜视和视敏度下降，有时还会出现急性角型青光眼。"},"tr":{"name":"Mikroftalmi-retinitis pigmentosa-foveoşizis-optik disk drusen sendromu","synonyms":["Nanoftalmos-retinitis pigmentosa-foveoskizis-optik disk drusen sendromu"]}},"xrefs":[{"source":"OMIM","code":"611040","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q15.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA10.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0012605","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755272","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"MFRP","name":"membrane frizzled-related protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17167404[PMID]","hgnc":"18121","ensembl":"ENSG00000235718","omim":"606227","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"19753314[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19753314[PMID]"}],"phenotypes":null}