{"id":17959,"date":"2002-01-07T00:00:00","date_gmt":"2002-01-07T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/retinosis-pigmentaria-autosomica-dominante-y-ligada-al-sexo-estudio-oftalmologico-electrofisiologico-y-molecular\/"},"modified":"2002-01-07T00:00:00","modified_gmt":"2002-01-07T00:00:00","slug":"retinosis-pigmentaria-autosomica-dominante-y-ligada-al-sexo-estudio-oftalmologico-electrofisiologico-y-molecular","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/retinosis-pigmentaria-autosomica-dominante-y-ligada-al-sexo-estudio-oftalmologico-electrofisiologico-y-molecular\/","title":{"rendered":"Retinosis pigmentaria autos\u00f3mica dominante y ligada al sexo. estudio oftalmol\u00f3gico, electrofisiol\u00f3gico y molecular"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Blanca Garc\u00eda Sandoval <\/strong><\/h2>\n<p>Introducci\u00f3n  la retinosis pigmentaria (rp) es un grupo de enfermedades hereditarias producidas por alteraci\u00f3n de los fotorreceptores retinianos.  material y m\u00e9todos  276 individuos pertenecientes a 31 familias de adrp y 22 de xlrp.93 afectos de adrp, 29 varones afectos y 39 portadoras de xlrp y el resto, familiares sanos para rp. Anamnesis protocolarizada y examen oftalmol\u00f3gico: agudeza visual, refracci\u00f3n, cristalino, campo visual (octopus 500), oftalmoscop\u00eda y electrorretinogrma (iscev). Estudio gen\u00e9tico: \u00e1rbol geneal\u00f3gico e identificaci\u00f3n de mutaciones de diversos genes adrp y xlrp. Correlaci\u00f3n genotipo-fenotipo. comparaci\u00f3n afectos y portadoras con los individos sanos y entre ambos tipos de herencia. Correlaci\u00f3n de par\u00e1metros oftalmol\u00f3gicos, electrofisiol\u00f3gicos y moleculares.  resultados  simetr\u00eda entre ambos ojos. Secuencia sintom\u00e1tica: 1\u00c2\u00ba ceguera nocturna 2\u00c2\u00ba. Disminuci\u00f3n de agudeza visual, 10 a\u00f1os antes en afectos de xlrp que en adrp. Mayor\u00eda de portadoras xlrp asintom\u00e1ticas. Av media en efectos xlrp=0,3; adrp=0,5 y portadoras=0,7. La av de los varoes afectos de xlrp no se correlacion\u00f3 con la presencia de ctaratas, en afectos de adrp y portadoras xlrp s\u00ed. Defecto refractivo medio en afectos y portadoras de xlrp -4,00+\/-3,20 y -,085 en afectos adrp. Incidencia de cataratas 53 y 54% en adrp y xlrp respectivamente y 22% en portadoras. Subcapsulares posteriores el 100% en xlrp, el 94% en adrp y en portadoras el 60%. Pigmento en fo: 81% en xlrp; 87% en adrp y 45% portadoras. Falta de simetr\u00eda en la funduscopia de las portadoras. Defectos graves en cv en 85% de xlrp; 71% de adrp y 12% de portadoras y s\u00f3lo en ellas se correlacionan con la cantidad de pigmento. disminuci\u00f3n de calibre vascular 92%, 70% y 25% respectivamente. Erg no registrable, 95% en xlrp y 60% adrp. La alteraci\u00f3n gen\u00e9tica se identific\u00f3 en el 64% de las familias xlrp y en el 42% de adrp y las mutaciones en el 33% y 29% respectivamente (<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Retinosis pigmentaria autos\u00f3mica dominante y ligada al sexo. estudio oftalmol\u00f3gico, electrofisiol\u00f3gico y molecular<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Retinosis pigmentaria autos\u00f3mica dominante y ligada al sexo. estudio oftalmol\u00f3gico, electrofisiol\u00f3gico y molecular <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Blanca Garc\u00eda Sandoval <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/07\/2002<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li> Zato G\u00f3mez De Lia\u00f1o Miguel Angel<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal:  Ram\u00edrez sebastian Jos\u00e9 m. <\/li>\n<li>Jos\u00e9 Luis Encinas martin (vocal)<\/li>\n<li>Jos\u00e9 Antonio Rodr\u00edguez montes (vocal)<\/li>\n<li>pedro De  la villa polo (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Blanca Garc\u00eda Sandoval Introducci\u00f3n la retinosis pigmentaria (rp) es un grupo de enfermedades hereditarias producidas por alteraci\u00f3n [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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