{"id":3950,"date":"2020-10-28T11:49:51","date_gmt":"2020-10-28T10:49:51","guid":{"rendered":"https:\/\/dev.retina.ch\/?post_type=netzhauterkrankungen&p=3950"},"modified":"2025-03-05T15:30:19","modified_gmt":"2025-03-05T14:30:19","slug":"amaurose-congenitale-de-leber","status":"publish","type":"netzhauterkrankungen","link":"https:\/\/retina.ch\/fr\/degenerescences-retiniennes\/amaurose-congenitale-de-leber\/","title":{"rendered":"Amaurose cong\u00e9nitale de Leber"},"content":{"rendered":"\n
<\/pre>\n\n\n\n
L’amaurose cong\u00e9nitale de Leber (LCA) englobe un groupe de dystrophies r\u00e9tiniennes-choro\u00efdiennes pr\u00e9sentant une grande vari\u00e9t\u00e9 d’expression, caus\u00e9es par un dysfonctionnement de l’\u00e9pith\u00e9lium pigmentaire r\u00e9tinien. Ce dysfonctionnement entra\u00eene la perte de fonction de la r\u00e9tine et la d\u00e9g\u00e9n\u00e9rescence de la choro\u00efde. L’on estime \u00e0 200 le nombre de personnes affect\u00e9es de cette maladie en Suisse.<\/p>\n\n\n\n
Une grave alt\u00e9ration de la vision, voire la c\u00e9cit\u00e9, est pr\u00e9sente d\u00e8s la naissance ou survient au cours de la premi\u00e8re ann\u00e9e de vie. Une perception de la lumi\u00e8re subsiste encore dans la plupart des cas, dans de nombreux cas le patient a une acuit\u00e9 visuelle (visus) de 20 pour-cent. Il n’est pas rare que la vue r\u00e9siduelle subsiste durant de nombreuses ann\u00e9es.<\/p>\n\n\n\n
La LCA peut avoir des causes g\u00e9n\u00e9tiques tr\u00e8s diverses. Pour une forme de LCA caus\u00e9e par une mutation dans le g\u00e8ne RPE65, des premi\u00e8res tentatives de th\u00e9rapie g\u00e9nique ont \u00e9t\u00e9 engag\u00e9es en 2006. Ces essais ont montr\u00e9 que la th\u00e9rapie g\u00e9nique de l\u2019\u0153il est un proc\u00e9d\u00e9 s\u00fbr et ils sont en cours dans divers pays. Aux \u00c9tats-Unis, la FDA a approuv\u00e9 la th\u00e9rapie g\u00e9nique pour le g\u00eane RPE65 (fin 2017).<\/p>\n\n\n\n
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L’amaurose cong\u00e9nitale de Leber (LCA) englobe un groupe de dystrophies r\u00e9tiniennes-choro\u00efdiennes pr\u00e9sentant une grande vari\u00e9t\u00e9 d’expression, caus\u00e9es par un dysfonctionnement de l’\u00e9pith\u00e9lium pigmentaire r\u00e9tinien.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"_FSMCFIC_featured_image_caption":"","_FSMCFIC_featured_image_nocaption":"","_FSMCFIC_featured_image_hide":"","footnotes":"","_links_to":"","_links_to_target":""},"categories":[55],"class_list":["post-3950","netzhauterkrankungen","type-netzhauterkrankungen","status-publish","hentry","category-maladies"],"acf":[],"yoast_head":"\nAmaurose cong\u00e9nitale de Leber • Retina Suisse<\/title>\n<meta name=\"description\" content=\"Amaurose cong\u00e9nitale de Leber (ACL) : causes, sympt\u00f4mes et derniers d\u00e9veloppements en mati\u00e8re de th\u00e9rapie g\u00e9nique - en savoir plus maintenant !\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/retina.ch\/fr\/degenerescences-retiniennes\/amaurose-congenitale-de-leber\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Amaurose cong\u00e9nitale de Leber • Retina Suisse\" \/>\n<meta property=\"og:description\" content=\"Amaurose cong\u00e9nitale de Leber (ACL) : causes, sympt\u00f4mes et derniers d\u00e9veloppements en mati\u00e8re de th\u00e9rapie g\u00e9nique - 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