{"id":3773,"date":"2023-03-12T09:37:55","date_gmt":"2023-03-12T07:37:55","guid":{"rendered":"https:\/\/infosan.ro\/fara-categorie\/aniridia-ce-este-cand-apare-aceasta-anomalie-a-ochiului-cum-se-manifesta-cum-este-diagnosticata-alte-sindroame-asociate-si-tratament\/"},"modified":"2025-03-25T10:23:10","modified_gmt":"2025-03-25T08:23:10","slug":"aniridia-ce-este-cand-apare-aceasta-anomalie-a-ochiului-cum-se-manifesta-cum-este-diagnosticata-alte-sindroame-asociate-si-tratament","status":"publish","type":"post","link":"https:\/\/infosan.ro\/noutati\/aniridia-ce-este-cand-apare-aceasta-anomalie-a-ochiului-cum-se-manifesta-cum-este-diagnosticata-alte-sindroame-asociate-si-tratament\/","title":{"rendered":"Aniridia &#8211; ce este, c\u00e2nd apare aceast\u0103 anomalie a ochiului, cum se manifest\u0103, cum este diagnosticat\u0103, alte sindroame asociate \u0219i tratament"},"content":{"rendered":"<p><span style=\"font-weight: 400;\">\u00cen sfera oftalmologic\u0103 exist\u0103 foarte multe studii care au leg\u0103tur\u0103 cu diferite subdomenii medicale precum: genetica, imagistica, chirurgia general\u0103, neurologia, psihiatria. Este destul de complicat\u0103 corelarea tuturor factorilor implica\u021bi c\u00e2nd se descoper\u0103 apari\u021bia unui sindrom, \u00eens\u0103 speciali\u0219tii \u00een medicin\u0103 duc o lupt\u0103 permanent\u0103 pentru a g\u0103si solu\u021biile cele mai bune pentru pacien\u021bi. \u00cen urm\u0103torul articol vei descoperi informa\u021bii utile despre o afec\u021biune ocular\u0103 congenital\u0103 care este destul de rar\u0103 \u00een lume \u0219i care se poate asocia cu diferite sindroame tratabile.<\/span><\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_80 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Cuprins<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/infosan.ro\/noutati\/aniridia-ce-este-cand-apare-aceasta-anomalie-a-ochiului-cum-se-manifesta-cum-este-diagnosticata-alte-sindroame-asociate-si-tratament\/#Aniridia_%E2%80%93_ce_este_cand_apare_aceasta_anomalie_a_ochiului_si_care_sunt_cauzele_aparitiei\" >Aniridia &#8211; ce este, c\u00e2nd apare aceast\u0103 anomalie a ochiului \u0219i care sunt cauzele apari\u021biei<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/infosan.ro\/noutati\/aniridia-ce-este-cand-apare-aceasta-anomalie-a-ochiului-cum-se-manifesta-cum-este-diagnosticata-alte-sindroame-asociate-si-tratament\/#Aniridia_congenitala_%E2%80%93_ce_este_ce_o_declanseaza_caracteristici_manifestari_diagnosticare\" >Aniridia congenital\u0103 &#8211; ce este, ce o declan\u0219eaz\u0103, caracteristici, manifest\u0103ri, diagnosticare<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/infosan.ro\/noutati\/aniridia-ce-este-cand-apare-aceasta-anomalie-a-ochiului-cum-se-manifesta-cum-este-diagnosticata-alte-sindroame-asociate-si-tratament\/#Aniridie_congenitala_%E2%80%93_alte_sindroame_asociate\" >Aniridie congenital\u0103 &#8211; alte sindroame asociate<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"Aniridia_%E2%80%93_ce_este_cand_apare_aceasta_anomalie_a_ochiului_si_care_sunt_cauzele_aparitiei\"><\/span><span style=\"font-weight: 400;\">Aniridia &#8211; ce este, c\u00e2nd apare aceast\u0103 anomalie a ochiului \u0219i care sunt cauzele apari\u021biei<\/span><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 400;\">C\u00e2nd e\u0219ti interesat de s\u0103n\u0103tate \u00een general \u0219i de vedere \u00een special, descoperi c\u0103 exist\u0103 o mul\u021bime de afec\u021biuni oculare, unele dob\u00e2ndite ereditar, altele contactate de-a lungul vie\u021bii.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Te \u00eentrebi ce este aniridia? R\u0103spunsul este destul de complicat din mai multe perspective. Este important de \u0219tiut c\u0103 aniridia este o afec\u021biune congenital\u0103 destul de rar\u0103, care se caracterizeaz\u0103 printr-un oarecare grad de hipoplazie sau absen\u021ba irisului con\u021bin\u00e2nd \u021besutul modificat genetic. Apari\u021bia acestei anomalii poate fi:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">de la na\u0219tere<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">progresiv\u0103,\u00a0 \u00een timp.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Speciali\u0219tii au constatat c\u0103 majoritatea cazurilor se asociaz\u0103 cu muta\u021bii genetice sau dele\u021bii mo\u0219tenite ereditar ale genei PAX6, care este situat\u0103 pe cromozomul 11.<\/span><\/p>\n<p><img fetchpriority=\"high\" decoding=\"async\" class=\"alignnone size-large wp-image-5604\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/1.-Aniridia-ce-este-cand-apare-aceasta-anomalie-a-ochiului-si-care-sunt-cauzele-aparitiei-1024x683-1.jpg\" alt=\"aniridia, tratament, oftalmologie\" width=\"1024\" height=\"683\" \/><\/p>\n<p><span style=\"font-weight: 400;\">Aniridia este o tulburare destul de rar\u0103 din sfera oftalmologic\u0103. Aceasta afecteaz\u0103 \u0219i celelalte elemente componente ale ochiului: irisul, retina, nervul optic, corneea, cristalinul.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Principala caracteristic\u0103 de diagnosticare este hipoplazia irisului sau chiar absen\u021ba acestuia din na\u0219tere. Desigur, intervine \u0219i hipoplazia foveal\u0103 cu acuitate vizual\u0103 destul de sc\u0103zut\u0103, deoarece se asociaz\u0103 de regul\u0103 cu nistagmus.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">De-a lungul vie\u021bii apar complica\u021bii care amenin\u021b\u0103 vederea: keratopatie, cataract\u0103 sau glaucom.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Din cauza acestei afec\u021biuni congenitale, pacien\u021bii pot avea \u0219i alte probleme senzoriale, \u00een special olfactive sau auditive.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Gena PAX6 care este modificat\u0103 \u00een cazul aniridiei codific\u0103 factorul de transcrip\u021bie cu rol \u00een dezvoltarea unor \u021besuturi \u0219i a ochiului.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u00cen cazul nou-n\u0103scu\u021bilor cu aniridie s-a constatat c\u0103 exist\u0103 riscul dezvolt\u0103rii tumorii Wilms, cauzat\u0103 de nefroblastom pediatric. Speciali\u0219tii au descoperit c\u0103 dele\u021bia care cuprinde genele PAX6 \u0219i WT1 (din apropierea tumorii Wilms) genereaz\u0103 sindromul WAGR (Wilms tumour aniridia genital anomalies-retardation).<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Muta\u021biile genetice ale genelor PAX6 genereaz\u0103 anomalii, de la o hipoplazie u\u0219oar\u0103 a irisului p\u00e2n\u0103 la microftalmie \u0219i anomalii Peters.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">S-a descoperit c\u0103 aniridia este o afec\u021biune de hipoplazie par\u021bial\u0103 sau complet\u0103 a irisului, chiar o afec\u021biune foveal\u0103 care are ca efect sc\u0103derea acuit\u0103\u021bii vizuale \u0219i\u00a0 reducerea nistagmusului. Aceasta se descoper\u0103 cel mai frecvent \u00een primii ani de via\u021b\u0103 sau \u00een copil\u0103rie. Dac\u0103 debuteaz\u0103 mai t\u00e2rziu, aceasta se asociaz\u0103 cu glaucomul, cataracta sau anomaliile corneene.<\/span><\/p>\n<p><img decoding=\"async\" class=\"size-full wp-image-5605 aligncenter\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/1.-Aniridia-ce-este-cand-apare-aceasta-anomalie-a-ochiului-si-care-sunt-cauzele-aparitiei-4.jpg\" alt=\"aniridia, consult oftalmologic, doctor\" width=\"373\" height=\"248\" \/><\/p>\n<p><span style=\"font-weight: 400;\">Conform descoperirilor medicale s-a demonstrat c\u0103 dou\u0103 treimi din cazuri au o mo\u0219tenire genetic\u0103 dominant\u0103, pe c\u00e2nd o treime din cazuri prezint\u0103 anomalii sporadice. Aniridia este at\u00e2t de rar\u0103 \u00eenc\u00e2t poate afecta de la 1:40.000 p\u00e2n\u0103 la 1:1.000.000 de persoane. Aceasta afecteaz\u0103 \u021besuturile din \u00eentreg ochiul, nu numai din iris. Persoanele care sunt diagnosticate cu aceast\u0103 afec\u021biune prezint\u0103 alterarea sau absen\u021ba \u021besutului irisului care determin\u0103 sc\u0103derea acuit\u0103\u021bii vizuale sau nistagmus. Mai t\u00e2rziu, pot ap\u0103rea cataracta, glaucomul sau opacifierea corneei. Se pot observa mici diferen\u021be \u00eentre cei doi ochi ai unei persoane afectate. La nou-n\u0103scu\u021bi se poate identifica dup\u0103 circa \u0219ase s\u0103pt\u0103m\u00e2ni irisul evident sau anomalia pupilar\u0103. De\u0219i genereaz\u0103 numeroase probleme oculare, aniridia poate fi \u021binut\u0103 sub control datorit\u0103 unor \u00eengrijiri medicale eficiente \u0219i eficace.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Echipa medical\u0103 de la Infosan.ro este constituit\u0103 din speciali\u0219ti de excep\u021bie care efectueaz\u0103 <\/span><a href=\"https:\/\/infosan.ro\/consultatii-oftalmologice-copii\/\"><span style=\"font-weight: 400;\">consulta\u021bii oftalmologice pentru copii<\/span><\/a><span style=\"font-weight: 400;\"> \u0219i <\/span><a href=\"https:\/\/infosan.ro\/consultatii-oftalmologice-adulti\/\"><span style=\"font-weight: 400;\">consulta\u021bii oftalmologice pentru adul\u021bi<\/span><\/a><span style=\"font-weight: 400;\"> pentru a descoperi la timp <\/span><a href=\"https:\/\/infosan.ro\/noutati\/malformatiile-congenitale-cauze-tratament-si-metode-precoce-de-depistare\/\"><span style=\"font-weight: 400;\">malforma\u021biile congenitale<\/span><\/a><span style=\"font-weight: 400;\"> \u0219i pentru a le combate \u00een timp util.<\/span><\/p>\n<p><img decoding=\"async\" class=\"alignnone size-full wp-image-5606\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/1.-Aniridia-ce-este-cand-apare-aceasta-anomalie-a-ochiului-si-care-sunt-cauzele-aparitiei-2.jpg\" alt=\"aniridia, consult copii, andreea ciubotaru\" width=\"1024\" height=\"683\" \/><\/p>\n<p><span style=\"font-weight: 400;\">Speciali\u0219tii no\u0219tri efectueaz\u0103 <\/span><a href=\"https:\/\/infosan.ro\/operatie-nistagmus\/\"><span style=\"font-weight: 400;\">opera\u021bie de nistagmus<\/span><\/a><span style=\"font-weight: 400;\"> \u0219i <\/span><a href=\"https:\/\/infosan.ro\/consultatii-oftalmologice-adulti\/\"><span style=\"font-weight: 400;\">alte opera\u021bii oftalmologice<\/span><\/a><span style=\"font-weight: 400;\"> care sunt utile pentru \u00eembun\u0103t\u0103\u021birea calit\u0103\u021bii vie\u021bii prin cre\u0219terea acuit\u0103\u021bii vizuale \u0219i restabilirea mobilit\u0103\u021bii pleoapelor.\u00a0<\/span><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-5607\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/1.-Aniridia-ce-este-cand-apare-aceasta-anomalie-a-ochiului-si-care-sunt-cauzele-aparitiei-3.jpg\" alt=\"aniridia, ce este aniridia, ochi\" width=\"900\" height=\"600\" \/><\/p>\n<p><span style=\"font-weight: 400;\">Utilizarea unor <\/span><a href=\"https:\/\/infosan.ro\/echipamente-medicale\/\"><span style=\"font-weight: 400;\">echipamente medicale<\/span><\/a><span style=\"font-weight: 400;\"> de \u00eenalt\u0103 clas\u0103 determin\u0103 prevenirea \u0219i tratarea afec\u021biunilor oftalmologice ale adul\u021bilor \u0219i copiilor. Rolurile interven\u021biilor chirurgicale sunt multiple, precum <\/span><a href=\"https:\/\/infosan.ro\/operatie-ptoza-palpebrala\/\"><span style=\"font-weight: 400;\">opera\u021bia de ptoz\u0103<\/span><\/a><span style=\"font-weight: 400;\">, care are un rol estetic \u0219i unul func\u021bional.<\/span><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-large wp-image-5608\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/1.-Aniridia-ce-este-cand-apare-aceasta-anomalie-a-ochiului-si-care-sunt-cauzele-aparitiei-5-1024x683-1.jpg\" alt=\"aniridia, operatii ochi, doctor\" width=\"1024\" height=\"683\" \/><\/p>\n<p><span style=\"font-weight: 400;\">Conform descoperirilor speciali\u0219tilor, s-a constatat c\u0103 muta\u021biile fenotipice ale PAX6 determin\u0103 alte muta\u021bii genotipice:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">absen\u021ba total\u0103 a \u021besutului irisului care se coreleaz\u0103 cu afachie chirurgical\u0103 (absen\u021ba sau \u00eenl\u0103turarea cristalinului natural) , c\u00e2nd r\u0103m\u00e2ne capsula opac\u0103 a cristalinului<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">absen\u021ba \u00een mare m\u0103sur\u0103 a \u021besutului irisului, care poate fi mascat\u0103 de unele anomalii precum opacifierea corneei \u0219i pigmentarea cristalinului<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">absen\u021ba par\u021bial\u0103 a \u021besutului irisului<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">keratopatie aniridic\u0103 sever\u0103, care determin\u0103 opacifierea complet\u0103 a corneei<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">iris cu arhitectur\u0103 anormal\u0103 complet\u0103.<\/span><\/li>\n<\/ul>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-5609\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/1.-Aniridia-ce-este-cand-apare-aceasta-anomalie-a-ochiului-si-care-sunt-cauzele-aparitiei-6.jpg\" alt=\"ochi, operatii oftalmologice, doctor, aniridia\" width=\"1024\" height=\"683\" \/><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Aniridia_congenitala_%E2%80%93_ce_este_ce_o_declanseaza_caracteristici_manifestari_diagnosticare\"><\/span><span style=\"font-weight: 400;\">Aniridia congenital\u0103 &#8211; ce este, ce o declan\u0219eaz\u0103, caracteristici, manifest\u0103ri, diagnosticare<\/span><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 400;\">Cercet\u0103rile \u00een domeniul medical au concluzionat c\u0103 aniridia congenital\u0103 este determinat\u0103 de o muta\u021bie genetic\u0103 \u0219i se caracterizeaz\u0103 prin absen\u021ba bilateral\u0103 a irisului. S-au efectuat examene medicale pe mai multe persoane \u0219i s-a descoperit c\u0103 individul afectat de aniridie prezint\u0103 un handicap vizual care poate s\u0103 degenereze p\u00e2n\u0103 la orbire total\u0103 la \u00eenaintarea \u00een v\u00e2rst\u0103.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u00cen cazul hipoplaziei irisului se genereaz\u0103 reducerea acestuia la o mic\u0103 buc\u0103\u021bic\u0103 de \u021besut rezidual, care se poate observa doar cu ajutorul gonioscopiei sau biomicroscopiei cu ultrasunete. \u00cen cele mai u\u0219oare cazuri irisul este prezent, \u00eens\u0103 este anormal. \u00cen alte cazuri se pot depista defecte par\u021biale ale irisului, pupile excentrice sau cu deform\u0103ri.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Cristalinul poate suferi unele deform\u0103ri congenitale, precum resturi de vascularizare a capsulei anterioare (de la na\u0219tere) sau o membran\u0103 pupilar\u0103 persistent\u0103. \u00cen copil\u0103rie este pu\u021bin probabil s\u0103 se dezvolte cataracta, \u00eens\u0103 opacit\u0103\u021bile cristalinului asociate cu aniridia se pot dezvolta preponderent \u00een adolescen\u021b\u0103 sau la o v\u00e2rst\u0103 adult\u0103. Luxa\u021bia sau subluxa\u021bia cristalinului s-a constatat foarte rar \u00een aceste cazuri cu malforma\u021bii congenitale.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">C\u00e2nd cre\u0219te presiunea intraocular\u0103 (hipertensiune ocular\u0103) f\u0103r\u0103 a se modifica discul optic \u0219i c\u00e2mpul vizual, se poate afirma c\u0103 acestea sunt manifest\u0103ri de glaucom. C\u00e2nd se dezvolt\u0103 \u00een copil\u0103rie, glaucomul determin\u0103 m\u0103rirea diametrului corneei \u0219i buftalmie (edem corneean).<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Anomalia corneei (keratopatia) se manifest\u0103 tardiv \u0219i de multe ori progresiv din cauza insuficientelor celule stem limbale. Modific\u0103rile corneei pot fi:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">vascularizare u\u0219oar\u0103<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">vascularizare pan cornean\u0103<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">opacifierea corneei<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">keratinizare.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">\u00cen unele cazuri, interven\u021bia chirurgical\u0103 pentru cataract\u0103 sau glaucom poate deteriora corneea. De asemenea, suprafa\u021ba ocular\u0103 poate fi afectat\u0103 de produc\u021bia inadecvat\u0103 de lacrimi.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Se poate descoperi o hipoplazie foveal\u0103 care genereaz\u0103 hipopigmentare macular\u0103 cauzat\u0103 de traversarea zonei avasculare foveale de c\u0103tre vasele retiniene.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u00cen aproximativ 10% din cazuri s-au descoperit anomalii precum hipoplazia nervului optic sau coloboma nervului optic.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u00cen aniridie se constat\u0103 \u0219i eroarea de refrac\u021bie, care poate genera:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">miopie<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">hipermetropie<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">strabism<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">astigmatism.<\/span><\/li>\n<\/ul>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-large wp-image-5610\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/2.-Aniridia-congenitala-ce-este-ce-o-declanseaza-caracteristici-manifestari-diagnosticare-1024x683-1.jpg\" alt=\"aniridia congenitala, copil cu strabism, ochelari copii\" width=\"1024\" height=\"683\" \/><\/p>\n<p><span style=\"font-weight: 400;\">S-a descoperit c\u0103 p\u00e2n\u0103 la 10% din cazuri prezint\u0103 ptoz\u0103 (pleoap\u0103 c\u0103zut\u0103).<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Din cauza r\u0103m\u0103\u0219i\u021bei de \u021besut a irisului se poate genera sindromul fibrozei aniridice care determin\u0103 opacifierea corneei.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Corelarea aniridiei cu deficitele senzoriale \u0219i neurologice este din ce \u00een ce mai evident\u0103, conform descoperirilor medicale. Astfel, se demonstreaz\u0103 caracteristicile sistemice ale airidiei:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">afectarea sistemului nervos central (olfactivitate redus\u0103)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">deficit de procesare auditiv\u0103 central\u0103 (dificult\u0103\u021bi de auz)<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">sindromul WAGR care asociaz\u0103 aniridia cu tumora Wilms, anomalii genito-urinare, retardare mintal\u0103, anomalii comportamentale, neurologice \u0219i metabolice.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Prima diagnosticare a aniridiei se realizeaz\u0103 la nivel clinic de c\u0103tre medicul pediatru, care verific\u0103 diagnosticul prin confruntarea cu analizele genetice moleculare. Diferen\u021bierea diagnostic\u0103rilor se realizeaz\u0103 prin intermediul observ\u0103rii anomaliilor de dezvoltare a segmentului anterior.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Metoda cea mai bun\u0103 de examinare clinic\u0103 este realizat\u0103 cu ajutorul l\u0103mpii cu fant\u0103 pentru examinarea irisului \u0219i anomaliilor pupilare. Opacifierea \u0219i vascularizarea corneei, cataracta \u0219i glaucomul se pot descoperi cu u\u0219urin\u021b\u0103 dac\u0103 acestea sunt prezente.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Pentru examinarea sugarilor se pot utiliza, \u00een scop de diagnosticare:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">fundoscopia<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">oftalmoscopia<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">tomografia cu coeren\u021b\u0103 optic\u0103<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">ultrasonografia.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Dac\u0103 se realizeaz\u0103 diagnostic genetic dup\u0103 cel clinic, este important s\u0103 se aib\u0103 \u00een vedere istoricul familial din sfera oftalmologic\u0103. Examinarea p\u0103rin\u021bilor poate demonstra existen\u021ba mo\u0219tenirii genetice a sugarului.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u00cen cazul evalu\u0103rii moleculare se poate descoperi dac\u0103 exist\u0103 muta\u021bii intragenice. \u00cen func\u021bie de acestea se adopt\u0103 cele mai bune strategii de testare genetic\u0103.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Este important\u0103 identificarea precoce a anomaliilor genetice pentru prevenirea recidivelor familiale nea\u0219teptate. Pe parcursul evolu\u021biei aniridiei se poate discuta de afec\u021biuni asociate care pot fi corectate \u00een mod eficient cu diferite interven\u021bii chirurgicale.<\/span><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-large wp-image-5611\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/2.-Aniridia-congenitala-ce-este-ce-o-declanseaza-caracteristici-manifestari-diagnosticare-2-1024x683-1.jpg\" alt=\"aniridia, ochi, operatie ochi\" width=\"1024\" height=\"683\" \/><\/p>\n<p><span style=\"font-weight: 400;\">Pentru copiii cu aniridie sporadic\u0103 se recomand\u0103 examin\u0103ri cu ultrasunete renale \u00een mod regulat, precum \u0219i urm\u0103rirea de c\u0103tre un medic pediatru p\u00e2n\u0103 la v\u00e2rsta de opt ani. Criptorhidia \u0219i alte anomalii genitale se vor \u021bine sub control am\u0103nun\u021bit, cu respectarea tratamentului prescris de c\u0103tre medicul curant.\u00a0<\/span><\/p>\n<p><b>Cum se stabile\u0219te severitatea anomaliei oculare?<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Cea mai bun\u0103 metod\u0103 este m\u0103surarea acuit\u0103\u021bii vizuale pentru a putea determina gradul de deficien\u021b\u0103 a \u021besutului irisului \u0219i existen\u021ba hipoplaziei foveale \u0219i chiar a nervului optic. Astfel se poate observa func\u021bia vizual\u0103 \u0219i evolu\u021bia acesteia \u00een viitor. Pacien\u021bii care prezint\u0103 semne de cataract\u0103 sau glaucom vor putea suferi interven\u021bii chirurgicale pentru evitarea complica\u021biilor corneene sau de alt\u0103 natur\u0103.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u00cen cazul aniridiei izolate se acord\u0103 consiliere genetic\u0103. Cu toate c\u0103 se determin\u0103 modific\u0103ri aniridice destul de izolate, se vor examina p\u0103rin\u021bii copilului pentru a putea aprofunda eventualele modific\u0103ri aniridice subtile.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Sindromul WAGR implic\u0103 anomalii ale sistemului genito-urinar care pot imita aniridia familial\u0103.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Datorit\u0103 evolu\u021biei \u0219tiin\u021bei \u0219i tehnologiei s-a descoperit c\u0103 se poate diagnostica aniridia din perioada prenatal\u0103 prin amniocentez\u0103 sau prelevarea de vilozit\u0103\u021bi coriale.<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Aniridie_congenitala_%E2%80%93_alte_sindroame_asociate\"><\/span><span style=\"font-weight: 400;\">Aniridie congenital\u0103 &#8211; alte sindroame asociate<\/span><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 400;\">\u00cen cazurile constat\u0103rii unor afec\u021biuni asociate, este posibil ca acestea s\u0103 fie reversibile \u0219i s\u0103 prezinte rate de succes crescute \u00een vederea administr\u0103rii unor tratamente ameliorative c\u00e2t mai eficiente.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Aniridia congenital\u0103 este \u00eenso\u021bit\u0103 de regul\u0103 de:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">nistagmus<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">cataract\u0103<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">glaucom<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">keratopatie<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">hipoplazie foveal\u0103<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">hipoplazie macular\u0103 etc.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">\u00cen ultimii ani, s-a constatat c\u0103 exist\u0103 o str\u00e2ns\u0103 leg\u0103tur\u0103, \u00een cazul aniridiei, cu una dintre afec\u021biunile:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">tumora Wilms \u00een cazul rinichilor cu potcoav\u0103<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">hemihipertrofia total\u0103<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">microftalmie<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">anomalii Peters<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">retard mintal.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Exist\u0103 diferite tehnici de diagnosticare \u0219i de tratament chirurgical pentru afec\u021biunile asociate \u0219i descoperirile din domeniul medical sunt \u00eencurajatoare pentru pacien\u021bii \u00een cauz\u0103. \u00cen cazul aniridiei congenitale s-a constatat c\u0103 deficien\u021ba celulelor stem genereaz\u0103 evolu\u021bia bolii pe m\u0103sur\u0103 ce pacientul \u00eenainteaz\u0103 \u00een v\u00e2rst\u0103.<\/span><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-large wp-image-5612\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/3.-Aniridie-congenitala-alte-sindroame-asociate-1024x683-1.jpg\" alt=\"aniridie, femeie, ochelari femei\" width=\"1024\" height=\"683\" \/><\/p>\n<p><span style=\"font-weight: 400;\">Este \u00eencurajator faptul c\u0103 se pot identifica \u0219i trata multe dintre afec\u021biunile asociate pentru a reduce la minim riscurile de degenerare a acuit\u0103\u021bii vizuale \u0219i a orbirii.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Prin urmare, caut\u0103 cea mai eficient\u0103 solu\u021bie \u0219i alege clinica cea mai bun\u0103 c\u00e2nd ai dubii cu privire la starea ta de s\u0103n\u0103tate, mai ales c\u00e2nd este vorba despre ochi!<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Sursa foto: infosan.ro, pexels.com, unsplash.com, pinterest.com.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Referin\u021be<\/span><\/p>\n<p><span style=\"font-weight: 400;\">https:\/\/www.nature.com\/articles\/ejhg2012100<\/span><\/p>\n<p><span style=\"font-weight: 400;\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC1932171\/<\/span><\/p>\n<p><span style=\"font-weight: 400;\">https:\/\/www.tandfonline.com\/doi\/abs\/10.1586\/17469899.2016.1152182<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u00cen sfera oftalmologic\u0103 exist\u0103 foarte multe studii care au leg\u0103tur\u0103 cu diferite subdomenii medicale precum: genetica, imagistica, chirurgia general\u0103, neurologia, psihiatria. Este destul de complicat\u0103 corelarea tuturor factorilor implica\u021bi c\u00e2nd se descoper\u0103 apari\u021bia unui sindrom, \u00eens\u0103 speciali\u0219tii \u00een medicin\u0103 duc o lupt\u0103 permanent\u0103 pentru a g\u0103si solu\u021biile cele mai bune pentru pacien\u021bi. \u00cen urm\u0103torul articol [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":3784,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[16],"tags":[],"class_list":["post-3773","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noutati"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Aniridia - ce este, c\u00e2nd apare aceast\u0103 anomalie a ochiului, cum se manifest\u0103, cum este diagnosticat\u0103, alte sindroame asociate \u0219i tratament \u00bb - Infosan.ro<\/title>\n<meta name=\"description\" content=\"Descopera mai multe despre \u279c Aniridia - ce este, c\u00e2nd apare aceast\u0103 anomalie a ochiului, cum se manifest\u0103, cum este diagnosticat\u0103, alte sindroame asociate \u0219i tratament \u2705 Sfaturi &amp; 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