630 lines
29 KiB
Text
630 lines
29 KiB
Text
|
|
<!DOCTYPE html>
|
|
<html lang="en" dir="ltr">
|
|
<head>
|
|
<meta charset="utf-8" />
|
|
<meta name="description" content="Researchers at the University of Michigan and UC Davis have solved a genetic mystery that has afflicted three unrelated families, and possibly others, for generations." />
|
|
<meta name="keywords" content="Genetics,Microphthalmia" />
|
|
<meta name="google" content="vityevxlt8UuVFWvgz9_YwmJ5F0Nby_B3t54LLh-3Zw,lACaj571Gx_VdLF3HKSKUf1Wxx0H_bWxO3BYDZ_C1uw" />
|
|
<meta name="google-site-verification" content="vityevxlt8UuVFWvgz9_YwmJ5F0Nby_B3t54LLh-3Zw" />
|
|
<meta name="google-site-verification" content="lACaj571Gx_VdLF3HKSKUf1Wxx0H_bWxO3BYDZ_C1uw" />
|
|
<meta name="google-site-verification" content="UDfyeEAWNX_rJUHwog9j1kziEnByGwhkSJGLJclUWDA" />
|
|
<meta name="viewport" content="width=device-width, initial-scale=1.0" />
|
|
<script type="application/ld+json">{
|
|
"@context": "https://schema.org",
|
|
"@graph": [
|
|
{
|
|
"@type": "NewsArticle",
|
|
"@id": "https://www.nei.nih.gov/about/news-and-events/news/rare-mutation-causes-vitamin-deficiency-and-eye-deformities",
|
|
"name": "Rare Mutation Causes Vitamin A Deficiency and Eye Deformities",
|
|
"headline": "Rare Mutation Causes Vitamin A Deficiency and Eye Deformities",
|
|
"image": {
|
|
"@type": "ImageObject",
|
|
"representativeOfPage": "False",
|
|
"url": "https://www.nei.nih.gov/sites/default/files/styles/medium/public/2019-05/News_Grantee_Placeholder.png?itok=gelAzKsk",
|
|
"width": "526",
|
|
"height": "526"
|
|
},
|
|
"datePublished": "2015-04-23T10:25:39-0400",
|
|
"dateModified": "2025-01-27T14:55:06-0500",
|
|
"author": {
|
|
"@type": "GovernmentOrganization",
|
|
"@id": "https://www.nei.nih.gov/about/news-and-events/news/rare-mutation-causes-vitamin-deficiency-and-eye-deformities",
|
|
"name": "National Eye Institute",
|
|
"url": "https://www.nei.nih.gov"
|
|
},
|
|
"publisher": {
|
|
"@type": "GovernmentOrganization",
|
|
"@id": "https://www.nei.nih.gov/about/news-and-events/news/rare-mutation-causes-vitamin-deficiency-and-eye-deformities",
|
|
"name": "National Eye Institute",
|
|
"url": "https://www.nei.nih.gov"
|
|
}
|
|
},
|
|
{
|
|
"@type": "WebPage",
|
|
"@id": "https://www.nei.nih.gov/about/news-and-events/news/rare-mutation-causes-vitamin-deficiency-and-eye-deformities",
|
|
"breadcrumb": {
|
|
"@type": "BreadcrumbList",
|
|
"itemListElement": [
|
|
{
|
|
"@type": "ListItem",
|
|
"position": 1,
|
|
"name": "Home",
|
|
"item": "https://www.nei.nih.gov/"
|
|
},
|
|
{
|
|
"@type": "ListItem",
|
|
"position": 2,
|
|
"name": "About NEI",
|
|
"item": "https://www.nei.nih.gov/about"
|
|
},
|
|
{
|
|
"@type": "ListItem",
|
|
"position": 3,
|
|
"name": "News and Events",
|
|
"item": "https://www.nei.nih.gov/about/news-and-events"
|
|
},
|
|
{
|
|
"@type": "ListItem",
|
|
"position": 4,
|
|
"name": "NEI Research News",
|
|
"item": "https://www.nei.nih.gov/about/news-and-events/news"
|
|
},
|
|
{
|
|
"@type": "ListItem",
|
|
"position": 5,
|
|
"name": "Rare Mutation Causes Vitamin A Deficiency and Eye Deformities",
|
|
"item": "https://www.nei.nih.gov/about/news-and-events/news/rare-mutation-causes-vitamin-deficiency-and-eye-deformities"
|
|
}
|
|
]
|
|
},
|
|
"author": {
|
|
"@type": "GovernmentOrganization",
|
|
"@id": "https://www.nei.nih.gov",
|
|
"name": "National Eye Institute",
|
|
"url": "https://www.nei.nih.gov"
|
|
},
|
|
"publisher": {
|
|
"@type": "GovernmentOrganization",
|
|
"@id": "https://www.nei.nih.gov",
|
|
"name": "National Eye Institute",
|
|
"url": "https://www.nei.nih.gov"
|
|
}
|
|
}
|
|
]
|
|
}</script>
|
|
<link rel="icon" type="image/png" href="/themes/custom/nei/images/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/themes/custom/nei/images/apple-touch-icon.png" />
|
|
<meta name="last-updated" content="Jan 27, 2025, 2:55:06 PM" />
|
|
<link rel="icon" href="/themes/custom/nei/favicon.ico" type="image/vnd.microsoft.icon" />
|
|
<link rel="alternate" hreflang="en" href="https://www.nei.nih.gov/about/news-and-events/news/rare-mutation-causes-vitamin-deficiency-and-eye-deformities" />
|
|
<link rel="canonical" href="https://www.nei.nih.gov/about/news-and-events/news/rare-mutation-causes-vitamin-deficiency-and-eye-deformities" />
|
|
<link rel="shortlink" href="https://www.nei.nih.gov/node/2533" />
|
|
|
|
<title>Rare Mutation Causes Vitamin A Deficiency and Eye Deformities | National Eye Institute</title>
|
|
<link rel="preload" href="/themes/custom/nei/fonts/Aleo-Bold.woff2" as="font" type="font/woff2" crossorigin>
|
|
<link rel="preload" href="/themes/custom/nei/fonts/Lato-Regular.woff2" as="font" type="font/woff2" crossorigin>
|
|
<link rel="stylesheet" media="all" href="/sites/default/files/css/css_PGSk_7b88hq2qr_--_38MLvoj1ffr9jv3JhnNJTnKUM.css?delta=0&language=en&theme=nei&include=eJw1ytEKgCAMRuEXsnwk-dMxrOliTqi3j4iuDnycfFCprpbyHK4tDb-FRvwSshrFYvOErNhxBUHnCaYEcbJ_61Qji26Q5ZXa-QH_YCJ9" />
|
|
<link rel="stylesheet" media="all" href="/themes/custom/nei/css/style.css?sraguf" />
|
|
|
|
<script type="application/json" data-drupal-selector="drupal-settings-json">{"path":{"baseUrl":"\/","pathPrefix":"","currentPath":"node\/2533","currentPathIsAdmin":false,"isFront":false,"currentLanguage":"en"},"pluralDelimiter":"\u0003","gtag":{"tagId":"","consentMode":false,"otherIds":[],"events":[],"additionalConfigInfo":[]},"suppressDeprecationErrors":true,"ajaxPageState":{"libraries":"eJxdjFsOwjAMBC8U6iNFbmKZgPNQ7BTK6SmgCsrPrndkTbhSTFa7D0OtZq-2Cil8yoWOj5WYYT8c18pC3pCBt_jfE17wfoTZCRYeyORRjPruLmhpIS-b2EvFmArD73CFErDUGeWkoadmekCb5fXVsCN3bGeF2EdDmb5kGqWNWZKeKTpd1SjDjEpuSXRTeOeUaxxCT9WYZ50","theme":"nei","theme_token":null},"ajaxTrustedUrl":{"form_action_p_pvdeGsVG5zNF_XLGPTvYSKCf43t8qZYSwcfZl2uzM":true},"gtm":{"tagId":null,"settings":{"data_layer":"dataLayer","include_classes":false,"allowlist_classes":"google\nnonGooglePixels\nnonGoogleScripts\nnonGoogleIframes","blocklist_classes":"customScripts\ncustomPixels","include_environment":false,"environment_id":"","environment_token":""},"tagIds":["GTM-TLVNS7W"]},"user":{"uid":0,"permissionsHash":"c48594e108b5c1c2bea409821b71477d5bc2724c8cae6d31f1d985af0daab85c"}}</script>
|
|
<script src="/sites/default/files/js/js_WgzMsgqb-MiW-Z2aLffGQHepZwX2hWrEHSrb46WqZrk.js?scope=header&delta=0&language=en&theme=nei&include=eJxdjEEOgCAMBD-E9kmkYrOpqdQAMerr5eBBvUx29jCp8HUKQOkZAe4wiY1B6Pj7yAsf33MNmZvuEq0nojnPmkFvCVmUYD6xDTUV3Vq9ATUbLxk"></script>
|
|
<script src="https://script.crazyegg.com/pages/scripts/0117/6571.js" async></script>
|
|
<script src="/modules/contrib/google_tag/js/gtag.js?sraguf"></script>
|
|
<script src="/modules/contrib/google_tag/js/gtm.js?sraguf"></script>
|
|
|
|
</head>
|
|
<body class="t-news_item t-node__2533 path-about-news-and-events-news-rare-mutation-causes-vitamin-deficiency-and-eye-deformities">
|
|
<a href="#main-content" class="u-skip-link">
|
|
Skip to content
|
|
</a>
|
|
<noscript><iframe src="https://www.googletagmanager.com/ns.html?id=GTM-TLVNS7W"
|
|
height="0" width="0" style="display:none;visibility:hidden"></iframe></noscript>
|
|
|
|
<div class="dialog-off-canvas-main-canvas" data-off-canvas-main-canvas>
|
|
|
|
<div id="u-page-outer" class="u-outer">
|
|
<div class="views-element-container site-notice-block" id="block-views-block-site-notices-block-1">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="js-view-dom-id-bca3892fe522a94248c74087cbf8646ffbc018befc8d0e64978ba8c06dc01631 site-notices">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<img src="/themes/custom/nei/images/NEI-logo-tagline.svg" alt="" width="200" height="48" class="u-print-only">
|
|
<div class="r-global-header">
|
|
<div id="r-header-outer" class="r-header">
|
|
|
|
<div class="r-header-inner">
|
|
|
|
<div id="block-nei-branding" class="o-block--logo" role="banner">
|
|
|
|
|
|
|
|
|
|
|
|
<div class="o-logo">
|
|
<a href="/" class="o-logo__link" title="Home" rel="home"><span class="o-logo__text">National Eye Institute</span> <span class="o-logo__tagline">Research Today… Vision Tomorrow</span></a>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
<div id="block-neimenubutton-2">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="o-menu-toggle"><button class="o-menu-toggle__btn" id="menu-toggle__btn" aria-controls="block-mainnavigation" aria-expanded="true">Menu</button></div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
<div class="language-switcher-language-url has-no-translation" id="block-languageswitcher" role="navigation" aria-label="Language switcher">
|
|
|
|
|
|
<ul class="links">
|
|
<li class="is-active">
|
|
<a href="/about/news-and-events/news/rare-mutation-causes-vitamin-deficiency-and-eye-deformities" class="language-link is-active" lang="en" data-drupal-link-system-path="node/2533" aria-current="page">English</a>
|
|
</li>
|
|
<li>
|
|
<a href="/espanol/node/2533" class="language-link is-active" lang="es" data-drupal-link-system-path="node/2533" aria-current="page"> Español</a>
|
|
</li>
|
|
</ul>
|
|
|
|
|
|
</div>
|
|
<div class="search-global c-search--global" data-drupal-selector="search-global" id="block-globalsearchform" role="search">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<form action="/about/news-and-events/news/rare-mutation-causes-vitamin-deficiency-and-eye-deformities" method="post" id="search-global" accept-charset="UTF-8">
|
|
<div class="c-form__inner">
|
|
<div class="js-form-item form-item js-form-type-textfield form-item-global-terms js-form-item-global-terms">
|
|
<label for="edit-global-terms">Search the site</label>
|
|
<input data-drupal-selector="edit-global-terms" type="text" id="edit-global-terms" name="global-terms" value="" size="30" maxlength="128" placeholder="Search the site" class="form-text" />
|
|
|
|
</div>
|
|
<input data-drupal-selector="form-yzgjyp-rratg8i6f7ednbqc2ojww73qlsqx-0r5q5j0" type="hidden" name="form_build_id" value="form-yZgjYP_rRaTG8I6f7EDnbqc2oJWW73qlsQx-0R5Q5j0" />
|
|
<input data-drupal-selector="edit-search-global" type="hidden" name="form_id" value="search_global" />
|
|
<div data-drupal-selector="edit-global-actions" class="form-actions js-form-wrapper form-wrapper" id="edit-global-actions"><input data-drupal-selector="edit-global-submit" type="submit" id="edit-global-submit" name="op" value="Search" class="button js-form-submit form-submit" />
|
|
</div>
|
|
|
|
</div>
|
|
</form>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div class="r-menu-primary">
|
|
<nav aria-label="Main navigation" id="block-mainnavigation" class="o-menu-main__outer">
|
|
|
|
<ul class="o-menu o-menu-main"> <li class="o-menu-main__item o-menu-main__item--expanded o-menu-main__item--no-js"> <a href="/learn-about-eye-health" class="o-menu-main__link" data-drupal-link-system-path="node/39">Learn About Eye Health</a>
|
|
<ul class="o-menu o-menu-main__submenu"> <li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/learn-about-eye-health/healthy-vision" class="o-menu-main__link" data-drupal-link-system-path="node/788">Healthy Vision</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/learn-about-eye-health/eye-conditions-and-diseases" class="o-menu-main__link" data-drupal-link-system-path="learn-about-eye-health/eye-conditions-and-diseases">Eye Conditions and Diseases</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/learn-about-eye-health/eye-health-data-and-statistics" class="o-menu-main__link" data-drupal-link-system-path="node/825">Eye Health Data and Statistics</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/learn-about-eye-health/campaigns" class="o-menu-main__link" data-drupal-link-system-path="node/3859">Campaigns</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/learn-about-eye-health/vision-rehabilitation" class="o-menu-main__link" data-drupal-link-system-path="node/3865">Vision Rehabilitation</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/learn-about-eye-health/nei-for-kids" class="o-menu-main__link" data-drupal-link-system-path="node/162">NEI for Kids</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/learn-about-eye-health/outreach-resources" class="o-menu-main__link" data-drupal-link-system-path="node/125">Outreach Resources</a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--expanded o-menu-main__item--no-js"> <a href="/grants-and-training" class="o-menu-main__link" data-drupal-link-system-path="node/143">Grants and Training</a>
|
|
<ul class="o-menu-main__submenu o-menu"> <li class="o-menu-main__item"> <a href="/grants-and-training/how-apply" class="o-menu-main__link" data-drupal-link-system-path="node/145">How to Apply</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/grants-and-training/funding-opportunities" class="o-menu-main__link" data-drupal-link-system-path="node/144">Funding Opportunities</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/grants-and-training/training-nei" class="o-menu-main__link" data-drupal-link-system-path="node/146">Training at NEI</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/grants-and-training/funding-training-and-career-development" class="o-menu-main__link" data-drupal-link-system-path="node/152">Funding for Training and Career Development</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/grants-and-training/policies-and-procedures" class="o-menu-main__link" data-drupal-link-system-path="node/149">Policies and Procedures</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/grants-and-training/Prior-Approval-Requests" class="o-menu-main__link" data-drupal-link-system-path="node/3918">Prior Approval Requests</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/grants-and-training/resources-researchers" class="o-menu-main__link" data-drupal-link-system-path="node/150">Resources for Researchers</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/grants-and-training/contact-grants-and-funding-staff" class="o-menu-main__link" data-drupal-link-system-path="node/151">Contact Grants and Funding Staff</a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--expanded o-menu-main__item--no-js"> <a href="/research" class="o-menu-main__link" data-drupal-link-system-path="node/41">Research at NEI</a>
|
|
<ul class="o-menu-main__submenu o-menu"> <li class="o-menu-main__item"> <a href="/about/news-and-events/news" title="Research News" class="o-menu-main__link" data-drupal-link-system-path="about/news-and-events/news">Research News</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/research/clinical-trials" class="o-menu-main__link" data-drupal-link-system-path="node/132">Clinical Trials</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/research/research-labs-and-branches" class="o-menu-main__link" data-drupal-link-system-path="node/270">Research Labs and Branches</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/research/jobs-and-training-opportunities-nei" class="o-menu-main__link" data-drupal-link-system-path="node/564">Jobs and Training Opportunities at NEI</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/research/seminars" class="o-menu-main__link" data-drupal-link-system-path="node/4048">NEI Research Seminars</a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--expanded o-menu-main__item--no-js"> <a href="/about" class="o-menu-main__link" data-drupal-link-system-path="node/275">About NEI</a>
|
|
<ul class="o-menu-main__submenu o-menu"> <li class="o-menu-main__item"> <a href="/about/strategic-planning" class="o-menu-main__link" data-drupal-link-system-path="node/2857">Strategic Planning</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/about/news-and-events" class="o-menu-main__link" data-drupal-link-system-path="node/131">News and Events</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/about/goals-and-accomplishments" class="o-menu-main__link" data-drupal-link-system-path="node/281">Goals and Accomplishments</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/about/nei-history" class="o-menu-main__link" data-drupal-link-system-path="node/282">NEI History</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/about/nei-leadership" class="o-menu-main__link" data-drupal-link-system-path="node/415">NEI Leadership</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/about/budget-and-congress" class="o-menu-main__link" data-drupal-link-system-path="node/395">Budget and Congress</a>
|
|
</li>
|
|
<li class="o-menu-main__item o-menu-main__item--collapsed"> <a href="/about/advisory-committees" class="o-menu-main__link" data-drupal-link-system-path="node/285">Advisory Committees</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/learn-about-eye-health/outreach-resources/national-eye-health-education-program" title="National Eye Health Education Program" class="o-menu-main__link" data-drupal-link-system-path="node/265">National Eye Health Education Program</a>
|
|
</li>
|
|
<li class="o-menu-main__item"> <a href="/about/donate-nei" class="o-menu-main__link" data-drupal-link-system-path="node/286">Donate to NEI</a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
</ul>
|
|
|
|
|
|
</nav>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
|
|
<div class="o-overlay" aria-hidden="true"></div>
|
|
|
|
<div class="r-breadcrumb">
|
|
|
|
<div id="block-nei-breadcrumbs">
|
|
|
|
|
|
|
|
|
|
|
|
<nav aria-label="Breadcrumb">
|
|
<ol class="c-breadcrumb">
|
|
<li>
|
|
<a href="/">Home</a>
|
|
</li>
|
|
<li>
|
|
<a href="/about">About NEI</a>
|
|
</li>
|
|
<li>
|
|
<a href="/about/news-and-events">News and Events</a>
|
|
</li>
|
|
<li>
|
|
<a href="/about/news-and-events/news">NEI Research News</a>
|
|
</li>
|
|
<li>
|
|
Rare Mutation Causes Vitamin A Deficiency and Eye Deformities
|
|
</li>
|
|
</ol>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="r-page-header">
|
|
<div class="o-page-header">
|
|
|
|
<div id="block-nei-page-title">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<h1>
|
|
<span>Rare Mutation Causes Vitamin A Deficiency and Eye Deformities</span>
|
|
</h1>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
|
|
<div class="r-highlighted">
|
|
<div data-drupal-messages-fallback class="hidden"></div>
|
|
|
|
|
|
</div>
|
|
|
|
<div class="r-help">
|
|
|
|
</div>
|
|
<main id="main-content" class="r-main">
|
|
<div class="r-pre-content">
|
|
|
|
</div>
|
|
|
|
<div class="r-splitter">
|
|
<div class="r-content">
|
|
|
|
<div id="block-nei-content">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<article data-history-node-id="2533">
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
|
|
|
|
<div class="c-item__subtitle">
|
|
Altered protein highlights unique form of genetic inheritance
|
|
</div>
|
|
|
|
|
|
<div class="c-item__date">
|
|
April 23, 2015
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="c-item__tag c-item__tag--topic">
|
|
<a href="/about/news-and-events/news?topic=402" hreflang="en">Genetics</a>
|
|
<a href="/about/news-and-events/news?topic=137" hreflang="en">Microphthalmia</a>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="c-item__tag c-item__tag--research-type">
|
|
<a href="/about/news-and-events/news?research=6" hreflang="en">Clinical Research</a>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="c-item__tag c-item__tag--source">
|
|
<a href="/about/news-and-events/news?source=29" hreflang="en">Grantee</a>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="o-news__content">
|
|
<div class="c-text">
|
|
|
|
|
|
|
|
|
|
<p>Researchers at the University of Michigan and UC Davis have solved a genetic mystery that has afflicted three unrelated families, and possibly others, for generations. These families have been plagued by a variety of congenital eye malformations, including small eyes, with poor vision, and the complete absence of eyes. But until now, no one could figure out the genetic basis for these conditions.</p>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="c-link">
|
|
|
|
<a href="https://www.uofmhealth.org/news/archive/201504/rare-mutation-causes-vitamin-deficiency-and-eye-deformities" class="c-link__link">Read more at Michigan Medicine News web archive</a>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</article>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
<aside class="r-sidebar" role="complementary">
|
|
|
|
<div class="views-element-container" id="block-views-block-nei-sidebar-block-1">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="js-view-dom-id-c7f9e570f113e1987810555191bc468b0d5b6758ad0d2e5f7f8dcbf122a97d1f nei-sidebar">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
</aside>
|
|
</div>
|
|
</main>
|
|
|
|
<div class="r-footer">
|
|
<footer class="o-footer" role="contentinfo">
|
|
|
|
<div id="block-footer-2">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="o-footer__row">
|
|
<div class="o-footer__group o-footer__group--logo"><a class="o-logo__link" href="/" rel="home" title="Home"><span class="o-logo__text">National Eye Institute</span></a>
|
|
<ul class="o-menu-social">
|
|
<li class="o-menu-social__item"><a class="o-menu-social__link o-menu-social__link--facebook outlink-ignore" href="https://www.facebook.com/NationalEyeInstitute">Facebook</a></li>
|
|
<li class="o-menu-social__item"><a class="o-menu-social__link o-menu-social__link--twitter outlink-ignore" href="https://twitter.com/NatEyeInstitute">Twitter</a></li>
|
|
<li class="o-menu-social__item"><a class="o-menu-social__link o-menu-social__link--linkedin outlink-ignore" href="https://www.linkedin.com/company/national-eye-institute-nei">LinkedIn</a></li>
|
|
<li class="o-menu-social__item"><a class="o-menu-social__link o-menu-social__link--youtube outlink-ignore" href="https://www.youtube.com/user/neinih">YouTube</a></li>
|
|
</ul>
|
|
|
|
<p> </p>
|
|
</div>
|
|
|
|
<div class="o-footer__group o-footer__group--contact">
|
|
<h2 class="o-footer__title">Contact NEI</h2>
|
|
|
|
<ul class="o-menu-footer">
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="/contact-us/">Contact Us</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://www.nih.gov/about-nih/visitor-information">Visit NIH</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://list.nih.gov/cgi-bin/wa.exe?SUBED1=insidenei&A=1">Get Email Updates from NEI</a></li>
|
|
</ul>
|
|
</div>
|
|
|
|
<div class="o-footer__group o-footer__group--policies">
|
|
<h2 class="o-footer__title">Policies</h2>
|
|
|
|
<ul class="o-menu-footer">
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="/accessibility-information">Accessibility</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://www.nih.gov/nondiscrimination-notice-language-assistance-services">Information in Other Languages</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="/nei-website-privacy-policy">Privacy</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="/freedom-information-act">Freedom of Information Act (FOIA)</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="/disclaimers">Disclaimers</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="/web-policies ">Web Policies</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html ">Vulnerability Disclosure</a></li>
|
|
</ul>
|
|
</div>
|
|
|
|
<div class="o-footer__group o-footer__group--employees">
|
|
<h2 class="o-footer__title">For NEI Employees</h2>
|
|
|
|
<ul class="o-menu-footer">
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://intranet.nei.nih.gov">Intranet</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://intranet.nei.nih.gov/hr/Pages/emergency.aspx">Emergency Information</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://ned.nih.gov/search/search.aspx">NIH Staff Directory</a></li>
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="o-footer__row">
|
|
<div class="o-footer__full o-footer__full--parent">
|
|
<ul class="o-menu-footer o-menu-footer--swing">
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://www.nih.gov/">NIH.gov</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://hhs.gov/">HHS.gov</a></li>
|
|
<li class="o-menu-footer__item"><a class="o-menu-footer__link" href="https://usa.gov/">USA.gov</a></li>
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
</footer>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="c-lb-wrapper" id="lb-wrapper" aria-hidden="true">
|
|
<div class="c-lb-overlay" tabindex="-1"></div>
|
|
<div role="dialog" class="c-lb" id="lb">
|
|
<div class="c-lb-header">
|
|
<button class="c-lb-close-btn"><span class="c-lb-close-btn-text">Close</span><span class="c-lb-close-btn-text times" aria-hidden="true">×</span></button>
|
|
</div>
|
|
<figure class="c-lb-figure">
|
|
<figcaption class="c-lb-caption"></figcaption>
|
|
</figure>
|
|
</div>
|
|
</div>
|
|
|
|
<script src="/sites/default/files/js/js_agazM-qm5cOcplNZo9kNIWFtUrwt0V1xgAKtLyM44Us.js?scope=footer&delta=0&language=en&theme=nei&include=eJxdjEEOgCAMBD-E9kmkYrOpqdQAMerr5eBBvUx29jCp8HUKQOkZAe4wiY1B6Pj7yAsf33MNmZvuEq0nojnPmkFvCVmUYD6xDTUV3Vq9ATUbLxk"></script>
|
|
<script src="/themes/custom/nei/js/scripts.js?sraguf"></script>
|
|
|
|
</body>
|
|
</html>
|