{"id":994,"date":"2017-05-13T18:23:51","date_gmt":"2017-05-13T18:23:51","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=994"},"modified":"2026-02-24T21:06:17","modified_gmt":"2026-02-24T21:06:17","slug":"genetic-causes-of-optic-nerve-hypoplasia","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/05\/13\/genetic-causes-of-optic-nerve-hypoplasia\/","title":{"rendered":"Genetic causes of optic nerve hypoplasia (Contributed by Dr. Christian Schaaf)"},"content":{"rendered":"<p>Optic nerve hypoplasia is characterized by the underdevelopment of the optic nerves, which carry the visual information from the retina to the brain. Optic nerve hypoplasia represents the most common congenital optic nerve anomaly and a leading cause of blindness in the United States. This review highlights the growing number of genes that have been identified to cause optic nerve hypoplasia when mutated. The human clinical features associated with respective gene mutations, and the mouse models that have been generated to gain a deeper understanding of the disorders, are discussed. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/05\/13\/jmedgenet-2017-104626\">http:\/\/jmg.bmj.com\/content\/early\/2017\/05\/13\/jmedgenet-2017-104626<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/05\/Untitled.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-995\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/05\/Untitled-300x165.jpg\" alt=\"\" width=\"300\" height=\"165\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/05\/Untitled-300x165.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/05\/Untitled-768x421.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/05\/Untitled-1024x562.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/05\/Untitled.jpg 1037w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Optic nerve hypoplasia is characterized by the underdevelopment of the optic nerves, which carry the visual information from the retina to the brain. Optic nerve hypoplasia represents the most common congenital optic nerve anomaly and a leading cause of blindness in the United States. This review highlights the growing number of genes that have been [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/05\/13\/genetic-causes-of-optic-nerve-hypoplasia\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-994","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetic causes of optic nerve hypoplasia (Contributed by Dr. Christian Schaaf) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/05\/13\/genetic-causes-of-optic-nerve-hypoplasia\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic causes of optic nerve hypoplasia (Contributed by Dr. Christian Schaaf) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Optic nerve hypoplasia is characterized by the underdevelopment of the optic nerves, which carry the visual information from the retina to the brain. Optic nerve hypoplasia represents the most common congenital optic nerve anomaly and a leading cause of blindness in the United States. 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