{"id":5160,"date":"2025-05-06T10:32:10","date_gmt":"2025-05-06T13:32:10","guid":{"rendered":"https:\/\/sbrv.org\/paciente\/?post_type=doenca&#038;p=5160"},"modified":"2025-05-06T10:32:11","modified_gmt":"2025-05-06T13:32:11","slug":"retinosquise","status":"publish","type":"doenca","link":"https:\/\/sbrv.org\/paciente\/doencas-retina\/retinosquise\/","title":{"rendered":"Retinosquise ligada ao X: O que \u00e9, Sintomas, Diagn\u00f3stico e Tratamentos | SBRV"},"content":{"rendered":"\n<p>\nA retinosquise ligada ao X \u00e9 uma condi\u00e7\u00e3o gen\u00e9tica rara que leva \u00e0 forma\u00e7\u00e3o de cistos intrarretinianos, resultando na separa\u00e7\u00e3o das camadas da retina. Acomete principalmente meninos e geralmente se manifesta na inf\u00e2ncia.\n<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">O QUE \u00c9<\/h2>\n\n\n\n<p>\nForma cong\u00eanita de retinosquise causada por muta\u00e7\u00e3o no gene <strong>RS1<\/strong>, que leva ao enfraquecimento da ades\u00e3o entre as camadas retinianas, especialmente na regi\u00e3o macular.\n<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">CAUSAS E FATORES DE RISCO<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Muta\u00e7\u00e3o no gene <strong>RS1<\/strong>, ligado ao cromossomo X.<\/li>\n\n\n\n<li>Predomin\u00e2ncia em pacientes do sexo masculino.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">SINTOMAS<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Vis\u00e3o central emba\u00e7ada desde a inf\u00e2ncia.<\/li>\n\n\n\n<li>Poss\u00edvel nistagmo ou estrabismo associado.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">DIAGN\u00d3STICO<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>OCT:<\/strong> evidencia cistos e clivagens nas camadas externa e interna da retina.<\/li>\n\n\n\n<li><strong>ERG:<\/strong> mostra padr\u00e3o caracter\u00edstico com onda b reduzida, apesar de uma onda a normal.<\/li>\n\n\n\n<li><strong>Teste gen\u00e9tico:<\/strong> confirma a muta\u00e7\u00e3o no gene RS1.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">TRATAMENTO<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Observa\u00e7\u00e3o:<\/strong> indicada nos casos est\u00e1veis, sem complica\u00e7\u00f5es.<\/li>\n\n\n\n<li><strong>Vitrectomia:<\/strong> indicada para descolamentos de retina ou hemorragias v\u00edtreas.<\/li>\n\n\n\n<li><strong>Fotocoagula\u00e7\u00e3o a laser:<\/strong> aplicada em \u00e1reas perif\u00e9ricas com degenera\u00e7\u00f5es, para preven\u00e7\u00e3o de descolamento.<\/li>\n\n\n\n<li><strong>Reabilita\u00e7\u00e3o visual:<\/strong> suporte com corre\u00e7\u00e3o \u00f3ptica e tratamento de ambliopia em casos com hipermetropia severa.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">PROGN\u00d3STICO<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Progress\u00e3o lenta na maioria dos casos, com risco de complica\u00e7\u00f5es como hemorragia v\u00edtrea e descolamento retiniano.<\/li>\n\n\n\n<li>Acompanhamento regular \u00e9 essencial para evitar perda visual significativa.<\/li>\n<\/ul>\n","protected":false},"template":"","class_list":["post-5160","doenca","type-doenca","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Retinosquise ligada ao X: O que \u00e9, Sintomas, Diagn\u00f3stico e Tratamentos | SBRV - SBRV - \u00c1rea do Paciente<\/title>\n<meta name=\"description\" content=\"Sabe o que \u00e9 retinosquise? 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