{"id":1083,"date":"2020-08-26T09:33:00","date_gmt":"2020-08-26T09:33:00","guid":{"rendered":"https:\/\/clinlabint.3wstaging.nl\/researchers-find-new-genetic-links-underlying-progressively-blinding-eye-disease\/"},"modified":"2021-01-08T11:09:33","modified_gmt":"2021-01-08T11:09:33","slug":"researchers-find-new-genetic-links-underlying-progressively-blinding-eye-disease","status":"publish","type":"post","link":"https:\/\/clinlabint.com\/researchers-find-new-genetic-links-underlying-progressively-blinding-eye-disease\/","title":{"rendered":"Researchers find new genetic links underlying progressively blinding eye disease"},"content":{"rendered":"

Corneal diseases are among the most common causes of visual impairment and blindness, with Fuchs endothelial corneal dystrophy (FECD), a gradual swelling and clouding of the cornea, being the most common reason for eventual corneal transplants.<\/span>
\nThe cornea is the transparent front part of the eye covering the iris, pupil and anterior chamber. In Fuchs endothelial corneal dystrophy, the innermost cell layer of the cornea begins to progressively deteriorate, eventually resulting in severe vision impairment and blindness.<\/span>
\nResearchers at University of California San Diego School of Medicine, with colleagues at Case Western University, Duke University, the National Institutes of Health and elsewhere, have identified three novel genomic loci \u2014 distinct stretches of genetic material on chromosomes \u2014 linked to FECD, which often clusters in families and is roughly 39 percent heritable.<\/span>
\n\u201cPreviously, there was one known FECD locus. We\u2019ve expanded that number to four,\u201d said the study\u2019s first author Natalie A. Afshari, MD, professor of ophthalmology, Stuart Brown MD Chair in Ophthalmology in Memory of Donald Shiley and chief of cornea and refractive surgery at Shiley Eye Institute at UC San Diego Health. \u201cThese findings provide a deeper understanding of the pathology of FECD, which in turn will help us develop better therapies for treating or preventing this disabling disease.\u201d<\/span>
\nFECD affects the innermost layer of cells in the cornea (the transparent front cover of the eye), called the endothelium. The endothelium is responsible for maintaining the proper amount of fluid in the cornea, keeping it clear. FECD is a progressive disorder in which the endothelium slowly degrades, with lost clarity, pain and severely impaired vision. It affects 4 percent of the U.S. population above age 40 and worsens with age. Women are two to four times more affected than men.  <\/span>While there is symptomatic treatment in early stages, surgery \u2014 often a corneal transplant \u2014 is the only remedy after significant vision loss occurs.
\nThe research team conducted a genome-wide association study, an analytical approach in which scientists look for genetic variants in individuals associated with a particular disease. This study involved 1,404 patients with FECD and 2,564 controls of European ancestry.<\/span>
\nThe results confirmed the known role of the TCF4 gene, but also revealed associations with three other loci: KANK4, LAMC1 and LINC009970\/ATPB1. Researchers also found some genomic markers that were more associated by gender, with LAMC1 increasing FECD risk in women while TCF4 increased risk in men.<\/span>
\n\u201cWhile more work must be done to precisely elucidate what these proteins do,\u201d said Afshari, \u201cthe results suggest they have essential roles in sustaining and maintaining the health of the corneal endothelium. This knowledge improves our understanding of the genetic risk factors for FECD and gives us new therapeutic targets.\u201d<\/span><\/p>\n

UCSD<\/span> Center<\/span> for Health<\/span>
\nhealth.ucsd.edu\/news\/releases\/Pages\/2017-03-30-new-genetic-links-underlying-progressive-eye-disease.aspx<\/link><\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

Corneal diseases are among the most common causes of visual impairment and blindness, with Fuchs endothelial corneal dystrophy (FECD), a gradual swelling and clouding of the cornea, being the most common reason for eventual corneal transplants. The cornea is the transparent front part of the eye covering the iris, pupil and anterior chamber. In Fuchs […]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[35],"tags":[],"class_list":["post-1083","post","type-post","status-publish","format-standard","hentry","category-e-news"],"_links":{"self":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1083"}],"collection":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/comments?post=1083"}],"version-history":[{"count":0,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1083\/revisions"}],"wp:attachment":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/media?parent=1083"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/categories?post=1083"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/tags?post=1083"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}