{"orpha":519396,"name":"Isolated microspherophakia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-519396/","orphanet_url":"https://www.orpha.net/en/disease/detail/519396","names":{"fr":{"name":"Microsphérophakie isolée","definition":"Maladie rare du segment antérieur de l'oeil caractérisée par la présence d'un cristallin anormalement petit et sphérique, avec un épaississement antéropostérieur important, l'équateur du cristallin étant visible en mydriase complète. La maladie est généralement bilatérale et peut être associée à une dislocation ou une subluxation du cristallin, à une myopie lenticulaire et à un glaucome secondaire à angle fermé."},"de":{"name":"Mikrosphärophakie, isolierte","definition":"Eine seltene Erkrankung des vorderen Augensegments, die durch eine ungewöhnlich kleine und kugelige Linse mit erhöhter anteroposteriorer Dicke und Sichtbarkeit des Linsenäquators bei vollständiger Mydriasis gekennzeichnet ist. Die Erkrankung tritt gewöhnlich beidseitig auf und kann mit einer Linsenverlagerung oder -subluxation, einer Linsenmyopie und einem sekundären Winkelblockglaukom einhergehen."},"es":{"name":"Microesferofaquia aislada","definition":"Es un trastorno poco frecuente del segmento anterior del ojo caracterizado por la presencia de un cristalino esférico inusualmente pequeño con un aumento del grosor anteroposterior y visibilidad del ecuador del cristalino en midriasis completa. La afección es típicamente bilateral y puede asociarse con luxación o subluxación del cristalino, miopía lenticular y glaucoma secundario de ángulo cerrado."},"it":{"name":"Microsferofachia isolata","definition":"Si tratta di una malattia rara del segmento anteriore dell'occhio, caratterizzata da un cristallino molto piccolo e sferico aumentato nello spessore anteroposteriore ed equatore visibile nella midriasi completa. Di solito la malattia è bilaterale e può associarsi alla dislocazione o alla sublussazione del cristallino, alla miopia lenticolare e al glaucoma secondario ad angolo chiuso."},"nl":{"name":"Geïsoleerde microsferofakie","definition":"Een zeldzame aandoening van voorste oogsegment, gekarakteriseerd door de aanwezigheid van een ongewoon kleine en sferische lens met verhoogde anteroposterieure dikte, en zichtbaarheid van equator van lens bij volledige pupildilatatie. De aandoening is doorgaans bilateraal en kan geassocieerd zijn met luxatie of subluxatie van lens, myopie van lens, en secundair geslotenkamerhoekglaucoom."},"pt":{"name":"Microesferofaquia isolada"},"pl":{"name":"Izolowana soczewka mała i kulista"},"cs":{"name":"Izolovaná mikrosférofakie"},"uk":{"name":"Ізольована мікросферофакія","definition":"A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma."},"zh":{"name":"孤立性小球形晶状体","definition":"一种罕见的眼前节疾病，其特征是存在异常小的球状晶状体，前后厚度增加，在完全混浊时晶状体赤道可见。本病一般为双侧性，可伴有晶状体脱位或半脱位、晶状体性近视和继发性角膜闭角型青光眼。"},"tr":{"name":"İzole mikrosferofaki"}},"xrefs":[{"source":"ICD-10","code":"Q12.4","qualifier":"E","icd_relation":"specific","validated":false},{"source":"ICD-11","code":"LA12.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1194029577"},{"source":"MONDO","code":"0034977","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681342","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":519394,"name":"OBSOLETE: Isolated microphakia","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98652,"name":"Lens size anomaly","classifications":[147,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}