{"id":4398,"date":"2024-06-26T09:48:46","date_gmt":"2024-06-26T06:48:46","guid":{"rendered":"https:\/\/infosan.ro\/fara-categorie\/sindrom-marfan-o-tulburare-genetica-rara-ce-afectiuni-oculare-poate-provoca-aceasta-boala\/"},"modified":"2025-03-25T10:23:33","modified_gmt":"2025-03-25T08:23:33","slug":"sindrom-marfan-o-tulburare-genetica-rara-ce-afectiuni-oculare-poate-provoca-aceasta-boala","status":"publish","type":"post","link":"https:\/\/infosan.ro\/noutati\/sindrom-marfan-o-tulburare-genetica-rara-ce-afectiuni-oculare-poate-provoca-aceasta-boala\/","title":{"rendered":"Sindrom Marfan, o tulburare genetic\u0103 rar\u0103 &#8211; ce afec\u021biuni oculare poate provoca aceast\u0103 boal\u0103?"},"content":{"rendered":"<p><span style=\"font-weight: 400;\">Tulburarea genetic\u0103 numit\u0103 sindrom Marfan se manifest\u0103 \u00een urma muta\u021biilor care apar la proteinele care sus\u021bin \u021besutul conjunctiv. Acesta se reg\u0103se\u0219te la nivelul mu\u0219chilor, vaselor sanguine, organelor, oaselor \u0219i a ligamentelor. \u00cen majoritatea cazurilor, aceast\u0103 anomalie se dob\u00e2nde\u0219te pe cale genetic\u0103. Sindromul Marfan reprezint\u0103 un poten\u021bial de risc pentru numeroase zone ale corpului, iar tratamentul variaz\u0103 \u00een func\u021bie de partea afectat\u0103.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u00cen acest articol, vei descoperi care sunt cauzele care genereaz\u0103 aceast\u0103 anomalie, care sunt cele mai afectate sisteme din organism \u0219i cum se identific\u0103 prezen\u021ba acestei boli \u00een corp. \u00cen plus, vom vorbi \u00een detaliu despre cum influen\u021beaz\u0103 sindromul Marfan s\u0103n\u0103tatea ocular\u0103.<\/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\/sindrom-marfan-o-tulburare-genetica-rara-ce-afectiuni-oculare-poate-provoca-aceasta-boala\/#Sindrom_Marfan_o_boala_multisistemica_%E2%80%93_care_sunt_principalele_organe_afectate\" >Sindrom Marfan, o boal\u0103 multisistemic\u0103 &#8211; care sunt principalele organe afectate?<\/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\/sindrom-marfan-o-tulburare-genetica-rara-ce-afectiuni-oculare-poate-provoca-aceasta-boala\/#Sindromul_Marfan_si_solutiile_de_tratament_%E2%80%93_cand_este_necesara_interventia_chirurgicala\" >Sindromul Marfan \u0219i solu\u021biile de tratament &#8211; c\u00e2nd este necesar\u0103 interven\u021bia chirurgical\u0103?<\/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\/sindrom-marfan-o-tulburare-genetica-rara-ce-afectiuni-oculare-poate-provoca-aceasta-boala\/#Marfan_sindrom_cu_potential_de_risc_pentru_sanatatea_oculara_la_adulti_si_copii_%E2%80%93_informatii_utile\" >Marfan, sindrom cu poten\u021bial de risc pentru s\u0103n\u0103tatea ocular\u0103 la adul\u021bi \u0219i copii &#8211; informa\u021bii utile<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"Sindrom_Marfan_o_boala_multisistemica_%E2%80%93_care_sunt_principalele_organe_afectate\"><\/span><span style=\"font-weight: 400;\">Sindrom Marfan, o boal\u0103 multisistemic\u0103 &#8211; care sunt principalele organe afectate?<\/span><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 400;\">Sindromul Marfan este o boal\u0103 care a fost descoperit\u0103 \u00een secolul al XIX-lea \u0219i care se mo\u0219tene\u0219te de la p\u0103rin\u021bi sau care poate de asemenea s\u0103 apar\u0103 spontan prin expunerea la medii cu substan\u021be nocive. Unele dintre acestea interfereaz\u0103 cu ADN-ul \u0219i favorizeaz\u0103 acest sindrom sau alte astfel de muta\u021bii genetice.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Aceast\u0103 boal\u0103 se manifest\u0103 prin simptome severe, \u00eencep\u00e2nd de la distrugerea vaselor sanguine \u0219i p\u00e2n\u0103 la deteriorarea structurilor fibroase ale ligamentelor \u0219i musculaturii. Sindromul este cauzat de muta\u021bia genelor FBN1, TGFBR2 \u0219i TGFBR1, care codific\u0103 fibrele elastice \u0219i \u021besuturile conjunctive din organism.\u00a0\u00a0<\/span><\/p>\n<p><b>Sindromul Marfan: care sunt principalele simptome?<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Dup\u0103 cum s-a men\u021bionat anterior, sindromul Marfan poate fi recunoscut pe baza unor simptome care interfereaz\u0103 cu s\u0103n\u0103tatea cardiovascular\u0103, ocular\u0103, a mu\u0219chilor, oaselor \u0219i a organelor interne.\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Probleme oculare<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Pe fondul sindromului se pot instala cataracta, glaucomul sau se pot disloca retina ori cristalinul. De asemenea, miopia sever\u0103 este unul dintre cele mai frecvente simptome prezente la pacien\u021bii cu sindrom Marfan.\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Afectarea mu\u0219chilor \u0219i a oaselor<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Cele mai comune probleme incidente \u00een cazul pacien\u021bilor cu sindrom Marfan sunt scolioza, cifoza \u0219i alte deform\u0103ri ale coloanei vertebrale. De asemenea, sl\u0103birea articula\u021biilor se num\u0103r\u0103 printre cele mai r\u0103sp\u00e2ndite simptome asociate sindromului Marfan.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Pe fondul acestei sensibilit\u0103\u021bi articulare, pacientul este predispus la senza\u021bii de rigiditate, contracturi, luxa\u021bii, limitarea mobilit\u0103\u021bii etc. Totodat\u0103, persoanele care \u00eent\u00e2mpin\u0103 probleme ale coloanei vertebrale din cauza acestei tulbur\u0103ri genetice risc\u0103 s\u0103 dezvolte blocaje sau dificult\u0103\u021bi respiratorii.\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Afec\u021biuni ale pl\u0103m\u00e2nilor, splinei sau glandelor endocrine<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Pacien\u021bii diagnostica\u021bi cu sindrom Marfan prezint\u0103 un risc ridicat de tulbur\u0103ri \u0219i infec\u021bii pulmonare. De asemenea, splina inflamat\u0103 poate fi un simptom asociat sindromului Marfan \u0219i care \u00een lipsa respect\u0103rii unui tratament medicamentos ar putea genera diverse complica\u021bii. Glandele endocrine sunt de asemenea afectate de aceast\u0103 tulburare genetic\u0103, deoarece simptomele pot duce la apari\u021bia hipertiroidismului sau hipotiroidismului.\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Afec\u021biuni cardiovasculare<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Acestea pot fi fatale \u00een majoritatea cazurilor \u0219i se manifest\u0103 prin disfunc\u021bii ale valvei aortice, aritmii sau anomalii ale aortei. Acestea la r\u00e2ndul lor pot s\u0103 presupun\u0103 o dilatare a aortei sau chiar ruperea acesteia.<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Sindromul_Marfan_si_solutiile_de_tratament_%E2%80%93_cand_este_necesara_interventia_chirurgicala\"><\/span><span style=\"font-weight: 400;\">Sindromul Marfan \u0219i solu\u021biile de tratament &#8211; c\u00e2nd este necesar\u0103 interven\u021bia chirurgical\u0103?<\/span><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><span style=\"font-weight: 400;\">Solu\u021biile de diagnosticare includ urm\u0103toarele: evaluarea istoricului familial \u0219i testul genetic pentru sindromul Marfan pe baza analizei ADN-ului. Mijloacele de tratament recomandate pacien\u021bilor cu sindrom Marfan mai pot viza interven\u021bii chirurgicale, m\u0103suri de recuperare sau administrarea unor medicamente.\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Interven\u021bii chirurgicale<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">\u00cen func\u021bie de gravitatea simptomelor, cele mai severe forme de manifestare ale bolii pot impune efectuarea unor opera\u021bii la nivel ocular, interven\u021bii pentru salvarea aortei sau pentru corectarea deform\u0103rilor de coloan\u0103.\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Tratament medicamentos<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Acesta poate include inhibitori enzimatici, antiinflamatoare sau corticosteroizi. Un astfel de tratament este recomandat de specialist pentru normalizarea tensiunii arteriale, astfel \u00eenc\u00e2t s\u0103 fie pre\u00eent\u00e2mpinate eventuale probleme de natur\u0103 cardiovascular\u0103.\u00a0\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Solu\u021bii de recuperare<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Acestea stimuleaz\u0103 refacerea \u0219i cre\u0219terea rezisten\u021bei mu\u0219chilor \u0219i articula\u021biilor.\u00a0<\/span><\/p>\n<p><b>Sindromul Marfan: monitorizarea simptomelor pentru cre\u0219terea speran\u021bei de via\u021b\u0103<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Sindromul Marfan, fiind o boal\u0103 multisistemic\u0103, necesit\u0103 un management de gestionare a stadiului \u00een care se afl\u0103, astfel \u00eenc\u00e2t s\u0103 nu apar\u0103 eventuale complica\u021bii. A\u0219adar, \u00een func\u021bie de specificul simptomelor, medicul poate recomanda monitorizarea periodic\u0103 a dimensiunii aortei, examin\u0103ri oftalmologice pentru depistarea timpurie a problemelor oculare sau pentru corectarea vederii prin lentile de contact, ochelari de vedere sau dup\u0103 caz, prin interven\u021bii chirurgicale. Monitorizarea este esen\u021bial\u0103, deoarece influen\u021beaz\u0103 calitatea vie\u021bii pacientului \u0219i astfel cre\u0219te implicit speran\u021ba de via\u021b\u0103 a pacientului diagnosticat cu sindrom Marfan.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Problemele de vedere pot impacta semnificativ calitatea vie\u021bii pacientului, ceea ce poate genera noi m\u0103suri speciale pentru ca activitatea s\u0103 poat\u0103 continua normal la \u0219coal\u0103 sau la locul de munc\u0103. Terapia psihologic\u0103 poate oferi sus\u021binere persoanelor aflate \u00een aceast\u0103 situa\u021bie delicat\u0103 de a gestiona tulbur\u0103rile emo\u021bionale provocate de simptomele afec\u021biunii.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Planul privind gestionarea sindromului Marfan este adesea rezultatul implic\u0103rii din partea medicilor oftalmologi, geneticieni \u0219i cardiologi\u00a0 pentru a le oferi pacien\u021bilor o \u00eengrijire adaptat\u0103 situa\u021biei individuale a fiec\u0103ruia.<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Marfan_sindrom_cu_potential_de_risc_pentru_sanatatea_oculara_la_adulti_si_copii_%E2%80%93_informatii_utile\"><\/span><span style=\"font-weight: 400;\">Marfan, sindrom cu poten\u021bial de risc pentru s\u0103n\u0103tatea ocular\u0103 la adul\u021bi \u0219i copii &#8211; informa\u021bii utile<\/span><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<figure id=\"attachment_7287\" aria-describedby=\"caption-attachment-7287\" style=\"width: 1024px\" class=\"wp-caption alignnone\"><img fetchpriority=\"high\" decoding=\"async\" class=\"size-large wp-image-7287\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/3.-Marfan-sindrom-medic-fetita-instrument-masurare-dioptrii-1024x683-1.jpg\" alt=\"Marfan, sindrom - medic, fetita, instrument masurare dioptrii\" width=\"1024\" height=\"683\" \/><figcaption id=\"caption-attachment-7287\" class=\"wp-caption-text\">Fotografie de Pavel Danilyuk pe Pexels.com<\/figcaption><\/figure>\n<p><span style=\"font-weight: 400;\">Marfan este un sindrom complex cu puternice implica\u021bii \u0219i asupra s\u0103n\u0103t\u0103\u021bii oculare. Multe dintre acestea pot necesita \u00een timp tratament monitorizat, dac\u0103 nu sunt efectuate interven\u021biile specializate \u00een timp real. Iat\u0103 o prezentare detaliat\u0103 a modului \u00een care aceast\u0103 tulburare genetic\u0103 impacteaz\u0103 s\u0103n\u0103tatea ochilor:\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Deplasarea cristalinului (ectopia lentis)<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Aceast\u0103 afec\u021biune este preponderent\u0103 \u00een peste 50% dintre cazurile de sindrom Marfan. Deplasarea poate fi u\u0219oar\u0103 sau sever\u0103, dar \u00een ambele cazuri pacientul necesit\u0103 m\u0103suri pentru restabilirea acuit\u0103\u021bii vizuale. Cristalinul se mi\u0219c\u0103 fa\u021b\u0103 de pozi\u021bia sa normal\u0103 pe fondul sl\u0103birii fibrelor de sus\u021binere, fiind afectate de sindrom.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Pacientul care poart\u0103 acest diagnostic experimenteaz\u0103 dificult\u0103\u021bi \u00een focalizarea obiectelor sau a siluetelor la diferite distan\u021be, vederea este \u00eence\u021bo\u0219at\u0103 sau imaginile pot p\u0103rea distorsionate. \u00cen urma unei<\/span><a href=\"https:\/\/infosan.ro\/consultatii-oftalmologice-adulti\/\"> <span style=\"font-weight: 400;\">consulta\u021bii oftalmologice pentru adul\u021bi<\/span><\/a><b>, <\/b><span style=\"font-weight: 400;\">medicul le poate recomanda acestora lentile de contact, ochelari de vedere sau opera\u021bie cu scop de \u00eenlocuire a cristalinului.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Sindromul Marfan este o afec\u021biune complex\u0103 cu multe implica\u021bii interesante \u00een ceea ce prive\u0219te s\u0103n\u0103tatea ochilor. De exemplu, modific\u0103rile genei FBN1 afecteaz\u0103 produc\u021bia de fibrilina 1, o protein\u0103 cu rol crucial \u00een formarea fibrelor din \u021besutul conjunctiv. De asemenea sunt afectate zonele care sus\u021bin pozi\u021bia normal\u0103 a cristalinului. \u00cen majoritatea cazurilor de sindrom Marfan, deplasarea cristalinului afecteaz\u0103 ambii ochi. Pentru corectarea problemelor de vedere cauzate prin deplasarea cristalinului, medicul poate recomanda lentilele de contact sclerale sau intraoculare multifocale.\u00a0\u00a0\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Miopia<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Pacien\u021bii cu miopie v\u0103d neclar obiectele sau formele aflate la distan\u021b\u0103, \u00een schimb vederea de aproape este clar\u0103. Astfel, o persoan\u0103 cu miopie va putea fi identificat\u0103 prin gesturile frecvente de a aduce mai aproape de ochi anumite obiecte sau de a se apropia pentru a le observa \u00eendeaproape.\u00a0\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Miopia este un simptom r\u0103sp\u00e2ndit \u00een r\u00e2ndul copiilor cu sindrom Marfan. Astfel, speciali\u0219tii sugereaz\u0103 programarea unei<\/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;\"> mai ales dac\u0103 istoricul medical familial arat\u0103 c\u0103, aceast\u0103 tulburare genetic\u0103 poate fi mo\u0219tenit\u0103 de la unul dintre p\u0103rin\u021bi. La pacien\u021bii cu miopie u\u0219oar\u0103, vederea poate fi restabilit\u0103 cu ajutorul ochelarilor de vedere sau a lentilelor de contact. \u00cen anumite situa\u021bii delicate, specialistul poate recomanda chirurgia refractiv\u0103 ca metod\u0103 de salvare a vederii.\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Glaucom<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Persoanele cu glaucom nici nu sunt con\u0219tiente c\u0103 au aceast\u0103 afec\u021biune, cel pu\u021bin \u00een faza incipient\u0103 c\u00e2nd nu exist\u0103 simptome. De aceea sunt importante vizitele periodice la medicul oftalmolog. Cu c\u00e2t este depistat\u0103 mai rapid aceast\u0103 anomalie, cu at\u00e2t cresc \u0219ansele ca vederea s\u0103 fie salvat\u0103 prin interven\u021bie prompt\u0103.\u00a0 Aceast\u0103 afec\u021biune reprezint\u0103 un poten\u021bial de risc pentru structura nervului optic, din cauza presiunii intraoculare ridicat\u0103. Astfel, printre sugestiile privind managementul \u0219i gestionarea sindromului Marfan se num\u0103r\u0103 \u0219i evaluarea constant\u0103 a presiunii intraoculare, precum \u0219i aplicarea unor pic\u0103turi speciale cu efect calmant.\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Cataracta<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Opacifierea cristalinului sau cataracta este mai des \u00eent\u00e2lnit\u0103 la persoanele cu sindrom Marfan, dec\u00e2t la restul popula\u021biei. Persoanele cu cataract\u0103 se confrunt\u0103 cu vedere \u00eence\u021bo\u0219at\u0103, fotofobie sau dificult\u0103\u021bi de vedere pe timpul nop\u021bii. Corectarea cataractei impune \u00eenlocuirea cristalinului opacifiat cu o variant\u0103 artificial\u0103.\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Dezlipirea de retin\u0103<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Aceast\u0103 problem\u0103 are drept cauz\u0103 desprinderea retinei de stratul de sus\u021binere. Din acest motiv, persoanele afectate reclam\u0103 apari\u021bia umbrelor, punctelor negre plutitoare sau a flash-urilor de lumin\u0103 \u00een c\u00e2mpul vizual. \u00cen cazul \u00een care aceast\u0103 problem\u0103 nu este abordat\u0103 cu promptitudine prin interven\u021bie chirurgical\u0103, atunci cre\u0219te riscul ca pacientul s\u0103-\u0219i piard\u0103 definitiv vederea. Exist\u0103 o serie de semnalmente specifice acestei probleme, printre care: flash-uri de lumin\u0103, puncte sau linii plutitoare, umbre care acoper\u0103 c\u00e2mpul vizual.\u00a0<\/span><\/p>\n<p><b>Sindromul Marfan: care sunt mijloacele de tratament disponibile pentru salvarea s\u0103n\u0103t\u0103\u021bii oculare?<\/b><\/p>\n<figure id=\"attachment_7288\" aria-describedby=\"caption-attachment-7288\" style=\"width: 1024px\" class=\"wp-caption alignnone\"><img decoding=\"async\" class=\"size-large wp-image-7288\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/3.-Marfan-sindrom-masurare-dioptrii-1024x683-1.jpg\" alt=\"Marfan, sindrom - masurare dioptrii\" width=\"1024\" height=\"683\" \/><figcaption id=\"caption-attachment-7288\" class=\"wp-caption-text\">Fotografie de Anna Shvets pe Pexels.com<\/figcaption><\/figure>\n<p><span style=\"font-weight: 400;\">Ca mijloace de tratament a afec\u021biunilor oculare cauzate de sindromul Marfan, medicii recomand\u0103 \u00een cazurile u\u0219oare de miopie at\u00e2t purtarea lentilelor, c\u00e2t \u0219i utilizarea ochelarilor pentru corectarea vederii. De asemenea, dac\u0103 pacientul este diagnosticat cu dezlipire de retin\u0103, ectopie lentis ori cataract\u0103, atunci interven\u021bia chirurgical\u0103 reprezint\u0103 singura op\u021biune pentru salvarea ochiului bolnav.\u00a0\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Marfan este un sindrom care face necesar\u0103 monitorizarea s\u0103n\u0103t\u0103\u021bii oculare conform recomand\u0103rilor oferite de medic, fie prin vizite anuale. Pentru depistarea afec\u021biunilor oculare provocate de sindromul Marfan, specialistul va realiza c\u00e2teva teste specifice:\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Biomicroscopie prin lampa cu fant\u0103<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Aceast\u0103 form\u0103 de examinare are drept scop verificarea pozi\u021biei cristalinului, distan\u021ba de deplasare a acestuia sau a altor structuri oculare.\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Tonometru<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Tonometrul este un instrument medical folosit pentru m\u0103surarea presiunii intraoculare sau pentru detectarea glaucomului. Monitorizarea regulat\u0103 a presiunii intraoculare este crucial\u0103 pentru diagnosticul precoce \u0219i managementul eficient al glaucomului \u0219i altor afec\u021biuni oculare.\u00a0<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Examinarea fundului de ochi<\/b><span style=\"font-weight: 400;\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Oftalmoscopia sau examinarea fundului de ochi este o procedur\u0103 crucial\u0103 pentru evaluarea vaselor sanguine, a retinei \u0219i a nervului optic. Aceast\u0103 m\u0103sur\u0103 presupune dilatarea pupilelor cu ajutorul pic\u0103turilor speciale, astfel \u00eenc\u00e2t medicul s\u0103 poat\u0103 analiza structura intern\u0103 a ochiului. De asemenea, acesta utilizeaz\u0103 un oftalmoscop care s\u0103-i permit\u0103 evaluarea asupra maculei, a retinei, nervului optic \u0219i asupra vaselor de s\u00e2nge.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Acest tip de examinare ofer\u0103 informa\u021bii referitoare la poten\u021biale inflama\u021bii, anomalii vasculare, semne care indic\u0103 deterior\u0103ri, glaucomul etc. De asemenea, prin verificarea vaselor de s\u00e2nge, medicul poate depista prezen\u021ba diabetului, a hipertensiunii arteriale sau altor boli sistemice.\u00a0\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Dup\u0103 examinare, rezultatele sunt discutate cu pacientul \u0219i, dac\u0103 este necesar, se recomand\u0103 tratamente sau teste suplimentare. Oftalmoscopia este o procedur\u0103 nedureroas\u0103 \u0219i neinvaziv\u0103, crucial\u0103 pentru diagnosticarea \u0219i monitorizarea diverselor afec\u021biuni oculare \u0219i sistemice, contribuind la prevenirea complica\u021biilor grave \u0219i men\u021binerea s\u0103n\u0103t\u0103\u021bii vizuale.\u00a0<\/span><\/p>\n<p><b>Re\u021bine: <\/b><span style=\"font-weight: 400;\">Consulta\u021biile oftalmologice \u0219i vizitele regulate la medic sunt esen\u021biale pentru a preveni complica\u021biile severe, cum ar fi pierderea vederii sau reducerea speran\u021bei de via\u021b\u0103. Diagnosticul precoce \u0219i monitorizarea constant\u0103 sunt vitale pentru a gestiona aceste riscuri. Tratamentul medical trebuie completat cu noi obiceiuri de via\u021b\u0103 care s\u0103 contribuie la gestionarea simptomelor \u0219i la prevenirea complica\u021biilor.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">A\u0219adar, sindromul Marfan este o tulburare genetic\u0103 manifestat\u0103 prin simptome complexe care afecteaz\u0103 s\u0103n\u0103tatea \u00eentregului organism. Aceast\u0103 afec\u021biune, ce implic\u0103 sistemele osos, cardiovascular \u0219i ocular, necesit\u0103 o abordare multidisciplinar\u0103 pentru gestionarea eficient\u0103. De\u0219i este o afec\u021biune imprevizibil\u0103 \u0219i complex\u0103, pacien\u021bii pot duce o via\u021b\u0103 activ\u0103 printr-o abordare adecvat\u0103. Aceasta trebuie orientat\u0103 c\u0103tre adaptarea tratamentului \u0219i a rutinei de via\u021b\u0103, pentru a preveni \u0219i gestiona simptomele, mai ales \u00een cazul pacien\u021bilor predispu\u0219i genetic la sindromul Marfan.\u00a0\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Referin\u021be:\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">https:\/\/www.niams.nih.gov\/health-topics\/marfan-syndrome\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">https:\/\/www.nature.com\/articles\/5201851\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">https:\/\/www.tandfonline.com\/doi\/full\/10.2147\/TACG.S96233\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\">https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S0146280607001223\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tulburarea genetic\u0103 numit\u0103 sindrom Marfan se manifest\u0103 \u00een urma muta\u021biilor care apar la proteinele care sus\u021bin \u021besutul conjunctiv. Acesta se reg\u0103se\u0219te la nivelul mu\u0219chilor, vaselor sanguine, organelor, oaselor \u0219i a ligamentelor. \u00cen majoritatea cazurilor, aceast\u0103 anomalie se dob\u00e2nde\u0219te pe cale genetic\u0103. Sindromul Marfan reprezint\u0103 un poten\u021bial de risc pentru numeroase zone ale corpului, iar tratamentul [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":4402,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[16],"tags":[],"class_list":["post-4398","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>Sindrom Marfan, o tulburare genetic\u0103 rar\u0103 - ce afec\u021biuni oculare poate provoca aceast\u0103 boal\u0103? \u00bb - Infosan.ro<\/title>\n<meta name=\"description\" content=\"Descopera mai multe despre \u279c Sindrom Marfan, o tulburare genetic\u0103 rar\u0103 - ce afec\u021biuni oculare poate provoca aceast\u0103 boal\u0103? \u2705 Sfaturi &amp; Recomandari de la specialisti \u27a4Citeste articolul pe Blogul Infosan\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/infosan.ro\/noutati\/sindrom-marfan-o-tulburare-genetica-rara-ce-afectiuni-oculare-poate-provoca-aceasta-boala\/\" \/>\n<meta property=\"og:locale\" content=\"ro_RO\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Sindrom Marfan, o tulburare genetic\u0103 rar\u0103 - ce afec\u021biuni oculare poate provoca aceast\u0103 boal\u0103? 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