{"id":5148,"date":"2025-05-05T16:18:38","date_gmt":"2025-05-05T19:18:38","guid":{"rendered":"https:\/\/sbrv.org\/paciente\/?post_type=doenca&#038;p=5148"},"modified":"2025-05-05T16:18:39","modified_gmt":"2025-05-05T19:18:39","slug":"retinose-pigmentar","status":"publish","type":"doenca","link":"https:\/\/sbrv.org\/paciente\/doencas-retina\/retinose-pigmentar\/","title":{"rendered":"Retinose Pigmentar: O que \u00e9, Sintomas, Diagn\u00f3stico e Tratamentos | SBRV"},"content":{"rendered":"\n<p>\nA retinose pigmentar \u00e9 um grupo de doen\u00e7as heredit\u00e1rias que causam degenera\u00e7\u00e3o progressiva dos fotorreceptores, resultando em perda de vis\u00e3o noturna e redu\u00e7\u00e3o conc\u00eantrica do campo visual, conhecida como \u201cvis\u00e3o tubular\u201d.\n<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">O QUE \u00c9<\/h2>\n\n\n\n<p>\nDistrofia retinal heredit\u00e1ria caracterizada por dep\u00f3sitos pigmentares em \u201cesp\u00edculas \u00f3sseas\u201d, atrofia do epit\u00e9lio pigmentar e palidez do nervo \u00f3ptico, levando \u00e0 perda progressiva da fun\u00e7\u00e3o visual.\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\u00f5es gen\u00e9ticas em mais de 60 genes conhecidos (<em>RHO<\/em>, <em>USH2A<\/em>, entre outros).<\/li>\n\n\n\n<li>Padr\u00f5es de heran\u00e7a: autoss\u00f4mico recessivo, dominante ou ligado ao cromossomo X.<\/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><strong>Nictalopia:<\/strong> dificuldade de enxergar em ambientes com pouca luz (primeiro sintoma).<\/li>\n\n\n\n<li><strong>Vis\u00e3o tubular:<\/strong> perda progressiva do campo visual perif\u00e9rico.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">DIAGN\u00d3STICO<\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>ERG (eletroretinograma):<\/strong> respostas retinianas severamente reduzidas ou ausentes.<\/li>\n\n\n\n<li><strong>Fundoscopia:<\/strong> pigmenta\u00e7\u00e3o em \u201cesp\u00edculas \u00f3sseas\u201d, vasos retinianos afilados e palidez do disco \u00f3ptico.<\/li>\n\n\n\n<li><strong>Teste gen\u00e9tico:<\/strong> identifica a muta\u00e7\u00e3o respons\u00e1vel pela condi\u00e7\u00e3o.<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">TRATAMENTO<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Vitamina A palmitato:<\/strong> pode desacelerar a progress\u00e3o em alguns casos (monitorar fun\u00e7\u00e3o hep\u00e1tica)\u00b9.<\/li>\n\n\n\n<li><strong>\u00d3culos escuros:<\/strong> prote\u00e7\u00e3o contra fotofobia e luz intensa.<\/li>\n\n\n\n<li><strong>Pr\u00f3teses retinianas:<\/strong> dispositivos implant\u00e1veis em desenvolvimento para casos avan\u00e7ados\u00b2.<\/li>\n\n\n\n<li><strong>Terapia g\u00eanica:<\/strong> promissora para muta\u00e7\u00f5es espec\u00edficas, em fase experimental.<\/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; muitos pacientes mant\u00eam vis\u00e3o central at\u00e9 a sexta ou s\u00e9tima d\u00e9cada de vida.<\/li>\n\n\n\n<li>Campo visual progressivamente limitado impacta a qualidade de vida.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">PREVEN\u00c7\u00c3O E CUIDADOS<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Teste gen\u00e9tico:<\/strong> importante para diagn\u00f3stico preciso e aconselhamento familiar.<\/li>\n\n\n\n<li><strong>Acompanhamento anual:<\/strong> com ERG, avalia\u00e7\u00e3o do campo visual e suporte oftalmol\u00f3gico.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">REFER\u00caNCIAS<\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Berson EL, et al. <em>Arch Ophthalmol<\/em>. 1993;111(5):687\u2013692.<\/li>\n\n\n\n<li>Stingl K, et al. <em>Ophthalmology<\/em>. 2017;124(8):1200\u20131207.<\/li>\n<\/ol>\n","protected":false},"template":"","class_list":["post-5148","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>Retinose Pigmentar: O que \u00e9, Sintomas, Diagn\u00f3stico e Tratamentos | SBRV - SBRV - \u00c1rea do Paciente<\/title>\n<meta name=\"description\" content=\"Retinose pigmentar: entenda esta distrofia heredit\u00e1ria da retina e manejo. 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