{"id":74801,"date":"2021-11-23T15:23:58","date_gmt":"2021-11-23T15:23:58","guid":{"rendered":"https:\/\/www.atlasrleye.com\/amaurose-congenitale-de-leber\/"},"modified":"2025-07-15T12:06:19","modified_gmt":"2025-07-15T12:06:19","slug":"amaurose-congenitale-de-leber","status":"publish","type":"page","link":"https:\/\/www.atlasrleye.com\/fr\/amaurose-congenitale-de-leber\/","title":{"rendered":"AMAUROSE CONG\u00c9NITALE DE LEBER"},"content":{"rendered":"

[vc_row][vc_column][vc_custom_heading text=\u00a0\u00bbSYNDROMES ET DYSTROPHIES R\u00c9TINIENNES\u00a0\u00bb font_container=\u00a0\u00bbtag:h5|font_size:22px|text_align:center|color:%23000000″ use_theme_fonts=\u00a0\u00bbyes\u00a0\u00bb link=\u00a0\u00bburl:https%3A%2F%2Fwww.atlasrleye.com%2Ffr%2Fatlas%2F%231636632807269-1444524b-3ed4|\u00a0\u00bb][vc_text_separator title=\u00a0\u00bb\u00a0\u00bb i_icon_fontawesome=\u00a0\u00bbfas fa-eye\u00a0\u00bb i_color=\u00a0\u00bbcustom\u00a0\u00bb i_size=\u00a0\u00bblg\u00a0\u00bb color=\u00a0\u00bbcustom\u00a0\u00bb border_width=\u00a0\u00bb8″ css=\u00a0\u00bb.vc_custom_1637080776101{margin-bottom: -5px !important;}\u00a0\u00bb add_icon=\u00a0\u00bbtrue\u00a0\u00bb accent_color=\u00a0\u00bb#bababa\u00a0\u00bb i_custom_color=\u00a0\u00bb#bababa\u00a0\u00bb][vc_custom_heading source=\u00a0\u00bbpost_title\u00a0\u00bb font_container=\u00a0\u00bbtag:h1|font_size:44px|text_align:center|color:%235f1b52″ use_theme_fonts=\u00a0\u00bbyes\u00a0\u00bb]

<\/div>[\/vc_column][\/vc_row][vc_row][vc_column width=\u00a0\u00bb3\/4″][vc_column_text]<\/p>\n
\n

L\u2019amaurose cong\u00e9nitale de L\u00e9ber est une dystrophie r\u00e9tinienne et\/ou une dysplasie au d\u00e9but pr\u00e9natal (dans la plupart des cas autosomique r\u00e9cessive). La LCA est g\u00e9n\u00e9tiquement h\u00e9t\u00e9rog\u00e8ne et ont \u00e9t\u00e9 identifi\u00e9s \u00e0 ce jour six g\u00e8nes associ\u00e9s: AIPL1, CRB1, CRX, GUCY2D, RPE65 et RPGRIP1.<\/p>\n

La LCA est associ\u00e9e \u00e0 retard mental, anomalies musculaires et squelettiques, surdit\u00e9 et \u00e0 saisies. Les sympt\u00f4mes oculaires comprennent la d\u00e9ficience visuelle s\u00e9v\u00e8re, les pupilles lentes, nyctalopie, sensibilit\u00e9 \u00e0 la lumi\u00e8re et nystagmus. Elle est souvent associ\u00e9e \u00e0 hyperm\u00e9tropie \u00e9lev\u00e9e, k\u00e9ratoc\u00f4ne et cataractes sous-capsulaires post\u00e9rieures.<\/p>\n

Le fond oculaire, au premier mois de vie, est souvent normal, mais plus tard il y a une granularit\u00e9 progressive de l\u2019\u00e9pith\u00e9lium pigmentaire de la r\u00e9tine, att\u00e9nuation vasculaire, colobomes maculaires, taches jaunes, fond \u00ab sel et poivre \u00bb, atrophie chor\u00efor\u00e9tinienne ou apparence de r\u00e9tinopathie pigmentaire. Environ 10% des cas ont une l\u00e9sion colobomateuse. L\u2019\u00e9lectror\u00e9tinographie montre une fonction r\u00e9tinienne r\u00e9duite ou absente.<\/p>\n

Les r\u00e9sultats avec la th\u00e9rapie g\u00e9nique ont \u00e9t\u00e9 encourageants dans quelques \u00e9tudes exp\u00e9rimentales.<\/p>\n<\/div>\n

[\/vc_column_text][\/vc_column][vc_column width=\u00a0\u00bb1\/4″][vc_images_carousel images=\u00a0\u00bb20433,20432″ img_size=\u00a0\u00bbmedium\u00a0\u00bb speed=\u00a0\u00bb2000″ autoplay=\u00a0\u00bbyes\u00a0\u00bb hide_pagination_control=\u00a0\u00bbyes\u00a0\u00bb wrap=\u00a0\u00bbyes\u00a0\u00bb css=\u00a0\u00bb.vc_custom_1752580903662{margin-bottom: 10px !important;}\u00a0\u00bb]

\n
\n\t<\/i>\n<\/div><\/div><\/div><\/div>
0<\/div>
Cas Cliniques<\/div><\/div><\/div>[\/vc_column][\/vc_row][vc_row][vc_column][vc_column_text css=\u00a0\u00bb.vc_custom_1752580911162{margin-bottom: 10px !important;}\u00a0\u00bb]<\/p>\n

Cas Cliniques<\/span><\/strong><\/h1>\n

[\/vc_column_text][\/vc_column][\/vc_row][vc_row][vc_column width=\u00a0\u00bb1\/4″][vc_column_text css=\u00a0\u00bb.vc_custom_1752580926461{margin-bottom: 0px !important;}\u00a0\u00bb]<\/p>\n

Cas Clinique 1<\/a><\/h4>\n

[\/vc_column_text][vc_gallery type=\u00a0\u00bbimage_grid\u00a0\u00bb images=\u00a0\u00bb20432,20433″ img_size=\u00a0\u00bb150″ css=\u00a0\u00bb.vc_custom_1752580936743{margin-bottom: 10px !important;margin-left: -20px !important;}\u00a0\u00bb][vc_row_inner][vc_column_inner width=\u00a0\u00bb1\/5″ offset=\u00a0\u00bbvc_col-xs-1\/5″]

\n
\n\t<\/i>\n<\/div><\/div><\/div><\/div>

1<\/h3><\/div> <\/div> <\/div> [\/vc_column_inner][vc_column_inner width=\u00a0\u00bb1\/5″ offset=\u00a0\u00bbvc_col-xs-1\/5″]
\n
\n\t<\/i>\n<\/div><\/div><\/div><\/div>

8<\/h3><\/div> <\/div> <\/div> [\/vc_column_inner][vc_column_inner width=\u00a0\u00bb1\/5″ offset=\u00a0\u00bbvc_col-xs-1\/5″]
\n
\n\t<\/i>\n<\/div><\/div><\/div><\/div>

0<\/h3><\/div> <\/div> <\/div> [\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row]<\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"

[vc_row][vc_column][vc_custom_heading text=\u00a0\u00bbSYNDROMES ET DYSTROPHIES R\u00c9TINIENNES\u00a0\u00bb font_container=\u00a0\u00bbtag:h5|font_size:22px|text_align:center|color:%23000000″ use_theme_fonts=\u00a0\u00bbyes\u00a0\u00bb link=\u00a0\u00bburl:https%3A%2F%2Fwww.atlasrleye.com%2Ffr%2Fatlas%2F%231636632807269-1444524b-3ed4|\u00a0\u00bb][vc_text_separator title=\u00a0\u00bb\u00a0\u00bb i_icon_fontawesome=\u00a0\u00bbfas fa-eye\u00a0\u00bb i_color=\u00a0\u00bbcustom\u00a0\u00bb i_size=\u00a0\u00bblg\u00a0\u00bb color=\u00a0\u00bbcustom\u00a0\u00bb border_width=\u00a0\u00bb8″ css=\u00a0\u00bb.vc_custom_1637080776101{margin-bottom: -5px !important;}\u00a0\u00bb add_icon=\u00a0\u00bbtrue\u00a0\u00bb accent_color=\u00a0\u00bb#bababa\u00a0\u00bb i_custom_color=\u00a0\u00bb#bababa\u00a0\u00bb][vc_custom_heading source=\u00a0\u00bbpost_title\u00a0\u00bb font_container=\u00a0\u00bbtag:h1|font_size:44px|text_align:center|color:%235f1b52″ use_theme_fonts=\u00a0\u00bbyes\u00a0\u00bb][\/vc_column][\/vc_row][vc_row][vc_column width=\u00a0\u00bb3\/4″][vc_column_text] L\u2019amaurose cong\u00e9nitale de L\u00e9ber est une dystrophie r\u00e9tinienne et\/ou une dysplasie au d\u00e9but pr\u00e9natal (dans […]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"class_list":["post-74801","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/www.atlasrleye.com\/fr\/wp-json\/wp\/v2\/pages\/74801","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.atlasrleye.com\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.atlasrleye.com\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.atlasrleye.com\/fr\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.atlasrleye.com\/fr\/wp-json\/wp\/v2\/comments?post=74801"}],"version-history":[{"count":12,"href":"https:\/\/www.atlasrleye.com\/fr\/wp-json\/wp\/v2\/pages\/74801\/revisions"}],"predecessor-version":[{"id":118155,"href":"https:\/\/www.atlasrleye.com\/fr\/wp-json\/wp\/v2\/pages\/74801\/revisions\/118155"}],"wp:attachment":[{"href":"https:\/\/www.atlasrleye.com\/fr\/wp-json\/wp\/v2\/media?parent=74801"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}