{"id":6220,"date":"2026-08-21T15:21:03","date_gmt":"2026-08-21T08:21:03","guid":{"rendered":"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/?p=6220"},"modified":"2026-08-21T15:24:08","modified_gmt":"2026-08-21T08:24:08","slug":"pathogenesis-and-treatment-of-usher-syndrome-type-iia","status":"publish","type":"post","link":"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/pathogenesis-and-treatment-of-usher-syndrome-type-iia\/","title":{"rendered":"Pathogenesis and Treatment of Usher Syndrome Type IIA"},"content":{"rendered":"<p>Khine Zaw, Livia S Carvalho, May T Aung-Htut, Sue Fletcher, Steve D Wilton, Fred K Chen, Samuel McLenachan<\/p>\n<h2 class=\"title\">Abstract<\/h2>\n<div id=\"eng-abstract\" class=\"abstract-content selected\">\n<div class=\"title\">\n<p>Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated prevalence of 4.4 to 16.6 per 100,000 people worldwide. The most common form of USH is type IIA (USH2A), which is caused by homozygous or compound heterozygous mutations in the USH2A gene and accounts for around half of all USH cases. USH2A patients show moderate to severe hearing loss from birth, with diagnosis of retinitis pigmentosa in the second decade of life and variable vestibular involvement. Although hearing aids or cochlear implants can provide some mitigation of hearing deficits, there are currently no treatments aimed at preventing or restoring vision loss in USH2A patients. In this review, we first provide an overview of the molecular biology of the USH2A gene and its protein isoforms, which include a transmembrane protein (TM usherin) and an extracellular protein (EC usherin). The role of these proteins in the inner ear and retina and their impact on the pathogenesis of USH2A is discussed. We review animal cell-derived and patient cell-derived models currently used in USH2A research and conclude with an overview of potential treatment strategies currently in preclinical development and clinical trials.<\/p>\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36041150\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/36041150\/<\/a><\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Khine Zaw, Livia S Carvalho, May T Aung-Htut, Sue Fletc [&#8230;]\n","protected":false},"author":6,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3],"tags":[],"class_list":["post-6220","post","type-post","status-publish","format-standard","hentry","category-3"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Pathogenesis and Treatment of Usher Syndrome Type IIA - \u0e20\u0e32\u0e04\u0e27\u0e34\u0e0a\u0e32\u0e0a\u0e35\u0e27\u0e40\u0e04\u0e21\u0e35 \u0e04\u0e13\u0e30\u0e41\u0e1e\u0e17\u0e22\u0e28\u0e32\u0e2a\u0e15\u0e23\u0e4c\u0e28\u0e34\u0e23\u0e34\u0e23\u0e32\u0e0a\u0e1e\u0e22\u0e32\u0e1a\u0e32\u0e25 \u0e21\u0e2b\u0e32\u0e27\u0e34\u0e17\u0e22\u0e32\u0e25\u0e31\u0e22\u0e21\u0e2b\u0e34\u0e14\u0e25<\/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:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/pathogenesis-and-treatment-of-usher-syndrome-type-iia\/\" \/>\n<meta property=\"og:locale\" content=\"th_TH\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Pathogenesis and Treatment of Usher Syndrome Type IIA - \u0e20\u0e32\u0e04\u0e27\u0e34\u0e0a\u0e32\u0e0a\u0e35\u0e27\u0e40\u0e04\u0e21\u0e35 \u0e04\u0e13\u0e30\u0e41\u0e1e\u0e17\u0e22\u0e28\u0e32\u0e2a\u0e15\u0e23\u0e4c\u0e28\u0e34\u0e23\u0e34\u0e23\u0e32\u0e0a\u0e1e\u0e22\u0e32\u0e1a\u0e32\u0e25 \u0e21\u0e2b\u0e32\u0e27\u0e34\u0e17\u0e22\u0e32\u0e25\u0e31\u0e22\u0e21\u0e2b\u0e34\u0e14\u0e25\" \/>\n<meta property=\"og:description\" content=\"Khine Zaw, Livia S Carvalho, May T Aung-Htut, Sue Fletc [...]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/pathogenesis-and-treatment-of-usher-syndrome-type-iia\/\" \/>\n<meta property=\"og:site_name\" content=\"\u0e20\u0e32\u0e04\u0e27\u0e34\u0e0a\u0e32\u0e0a\u0e35\u0e27\u0e40\u0e04\u0e21\u0e35 \u0e04\u0e13\u0e30\u0e41\u0e1e\u0e17\u0e22\u0e28\u0e32\u0e2a\u0e15\u0e23\u0e4c\u0e28\u0e34\u0e23\u0e34\u0e23\u0e32\u0e0a\u0e1e\u0e22\u0e32\u0e1a\u0e32\u0e25 \u0e21\u0e2b\u0e32\u0e27\u0e34\u0e17\u0e22\u0e32\u0e25\u0e31\u0e22\u0e21\u0e2b\u0e34\u0e14\u0e25\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/SIBBprogram\/\" \/>\n<meta property=\"article:published_time\" content=\"2026-08-21T08:21:03+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-08-21T08:24:08+00:00\" \/>\n<meta name=\"author\" content=\"Poorintra Sakuna\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Poorintra Sakuna\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 \u0e19\u0e32\u0e17\u0e35\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/www2.si.mahidol.ac.th\\\/department\\\/biochemistry\\\/pathogenesis-and-treatment-of-usher-syndrome-type-iia\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www2.si.mahidol.ac.th\\\/department\\\/biochemistry\\\/pathogenesis-and-treatment-of-usher-syndrome-type-iia\\\/\"},\"author\":{\"name\":\"Poorintra Sakuna\",\"@id\":\"https:\\\/\\\/www2.si.mahidol.ac.th\\\/department\\\/biochemistry\\\/#\\\/schema\\\/person\\\/75170c4a414d080cfd0b7428b2e0d11a\"},\"headline\":\"Pathogenesis and Treatment of Usher Syndrome Type IIA\",\"datePublished\":\"2026-08-21T08:21:03+00:00\",\"dateModified\":\"2026-08-21T08:24:08+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/www2.si.mahidol.ac.th\\\/department\\\/biochemistry\\\/pathogenesis-and-treatment-of-usher-syndrome-type-iia\\\/\"},\"wordCount\":227,\"publisher\":{\"@id\":\"https:\\\/\\\/www2.si.mahidol.ac.th\\\/department\\\/biochemistry\\\/#organization\"},\"articleSection\":[\"\u0e27\u0e34\u0e08\u0e31\u0e22 \u0e19\u0e27\u0e31\u0e15\u0e01\u0e23\u0e23\u0e21 \u0e41\u0e25\u0e30\u0e1c\u0e25\u0e07\u0e32\u0e19\u0e40\u0e14\u0e48\u0e19\"],\"inLanguage\":\"th\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www2.si.mahidol.ac.th\\\/department\\\/biochemistry\\\/pathogenesis-and-treatment-of-usher-syndrome-type-iia\\\/\",\"url\":\"https:\\\/\\\/www2.si.mahidol.ac.th\\\/department\\\/biochemistry\\\/pathogenesis-and-treatment-of-usher-syndrome-type-iia\\\/\",\"name\":\"Pathogenesis and Treatment of Usher Syndrome Type IIA - 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