109 lines
150 KiB
Text
109 lines
150 KiB
Text
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" xml:lang="en" class="no-js no-jr">
|
|
<head>
|
|
<!-- For pinger, set start time and add meta elements. -->
|
|
<script type="text/javascript">var ncbi_startTime = new Date();</script>
|
|
|
|
<!-- Logger begin -->
|
|
<meta name="ncbi_db" content="books">
|
|
<meta name="ncbi_pdid" content="book-part">
|
|
<meta name="ncbi_acc" content="NBK603735">
|
|
<meta name="ncbi_domain" content="statpearls">
|
|
<meta name="ncbi_report" content="reader">
|
|
<meta name="ncbi_type" content="fulltext">
|
|
<meta name="ncbi_objectid" content="">
|
|
<meta name="ncbi_pcid" content="/NBK603735/?report=reader">
|
|
<meta name="ncbi_pagename" content="Retinal Vascular Anomalies (VHL, Cavernous Hemangioma, Wyburn-Mason) - StatPearls - NCBI Bookshelf">
|
|
<meta name="ncbi_bookparttype" content="chapter">
|
|
<meta name="ncbi_app" content="bookshelf">
|
|
<!-- Logger end -->
|
|
|
|
<!--component id="Page" label="meta"/-->
|
|
<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>Retinal Vascular Anomalies (VHL, Cavernous Hemangioma, Wyburn-Mason) - StatPearls - NCBI Bookshelf</title>
|
|
<meta charset="utf-8">
|
|
<meta name="apple-mobile-web-app-capable" content="no">
|
|
<meta name="viewport" content="initial-scale=1,minimum-scale=1,maximum-scale=1,user-scalable=no">
|
|
<meta name="jr-col-layout" content="auto">
|
|
<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE">
|
|
<meta name="citation_inbook_title" content="StatPearls [Internet]">
|
|
<meta name="citation_title" content="Retinal Vascular Anomalies (VHL, Cavernous Hemangioma, Wyburn-Mason)">
|
|
<meta name="citation_publisher" content="StatPearls Publishing">
|
|
<meta name="citation_date" content="2024/05/02">
|
|
<meta name="citation_author" content="Tharini Senthamizh">
|
|
<meta name="citation_author" content="Koushik Tripathy">
|
|
<meta name="citation_pmid" content="38753939">
|
|
<meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK603735/">
|
|
<link rel="schema.DC" href="http://purl.org/DC/elements/1.0/">
|
|
<meta name="DC.Title" content="Retinal Vascular Anomalies (VHL, Cavernous Hemangioma, Wyburn-Mason)">
|
|
<meta name="DC.Type" content="Text">
|
|
<meta name="DC.Publisher" content="StatPearls Publishing">
|
|
<meta name="DC.Contributor" content="Tharini Senthamizh">
|
|
<meta name="DC.Contributor" content="Koushik Tripathy">
|
|
<meta name="DC.Date" content="2024/05/02">
|
|
<meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK603735/">
|
|
<meta name="description" content="Retinal vascular anomalies are rare hereditary or sporadic conditions affecting the retina and multiple organ systems. These anomalies include vascular tumors and telangiectasias. The vascular tumors of the retina are retinal capillary hemangiomas, cavernous hemangiomas, racemose hemangiomas, and retinal vasoproliferative tumors. The retinal telangiectasias are observed in conditions such as Coats disease, Leber's miliary aneurysms, and idiopathic juxtafoveal telangiectasias.[1]">
|
|
<meta name="og:title" content="Retinal Vascular Anomalies (VHL, Cavernous Hemangioma, Wyburn-Mason)">
|
|
<meta name="og:type" content="book">
|
|
<meta name="og:description" content="Retinal vascular anomalies are rare hereditary or sporadic conditions affecting the retina and multiple organ systems. These anomalies include vascular tumors and telangiectasias. The vascular tumors of the retina are retinal capillary hemangiomas, cavernous hemangiomas, racemose hemangiomas, and retinal vasoproliferative tumors. The retinal telangiectasias are observed in conditions such as Coats disease, Leber's miliary aneurysms, and idiopathic juxtafoveal telangiectasias.[1]">
|
|
<meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK603735/">
|
|
<meta name="og:site_name" content="NCBI Bookshelf">
|
|
<meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-statpearls-lrg.png">
|
|
<meta name="twitter:card" content="summary">
|
|
<meta name="twitter:site" content="@ncbibooks">
|
|
<meta name="bk-non-canon-loc" content="/books/n/statpearls/article-140270/?report=reader">
|
|
<link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK603735/">
|
|
<link href="https://fonts.googleapis.com/css?family=Archivo+Narrow:400,700,400italic,700italic&subset=latin" rel="stylesheet" type="text/css">
|
|
<link rel="stylesheet" href="/corehtml/pmc/jatsreader/ptpmc_3.22/css/libs.min.css">
|
|
<link rel="stylesheet" href="/corehtml/pmc/jatsreader/ptpmc_3.22/css/jr.min.css">
|
|
<meta name="format-detection" content="telephone=no">
|
|
<link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css">
|
|
<link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css//books_print.min.css" type="text/css" media="print">
|
|
<link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_reader.min.css" type="text/css">
|
|
<style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} .body-content h2, .body-content .h2 {border-bottom: 1px solid #97B0C8} .body-content h2.inline {border-bottom: none} a.page-toc-label , .jig-ncbismoothscroll a {text-decoration:none;border:0 !important} .temp-labeled-list .graphic {display:inline-block !important} .temp-labeled-list img{width:100%}</style>
|
|
|
|
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico">
|
|
<meta name="ncbi_phid" content="CE8E1D0C7C92052100000000001A0015.m_5">
|
|
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/css/3852956/3849091.css"></head>
|
|
<body>
|
|
<!-- Book content! -->
|
|
|
|
|
|
<div id="jr" data-jr-path="/corehtml/pmc/jatsreader/ptpmc_3.22/"><div class="jr-unsupported"><table class="modal"><tr><td><span class="attn inline-block"></span><br />Your browser does not support the NLM PubReader view.<br />Go to <a href="/pmc/about/pr-browsers/">this page</a> to see a list of supported browsers<br />or return to the <br /><a href="/books/NBK603735/?report=classic">regular view</a>.</td></tr></table></div><div id="jr-ui" class="hidden"><nav id="jr-head"><div class="flexh tb"><div id="jr-tb1"><a id="jr-links-sw" class="hidden" title="Links"><svg xmlns="http://www.w3.org/2000/svg" version="1.1" x="0px" y="0px" viewBox="0 0 70.6 85.3" style="enable-background:new 0 0 70.6 85.3;vertical-align:middle" xml:space="preserve" width="24" height="24">
|
|
<style type="text/css">.st0{fill:#939598;}</style>
|
|
<g>
|
|
<path class="st0" d="M36,0C12.8,2.2-22.4,14.6,19.6,32.5C40.7,41.4-30.6,14,35.9,9.8"></path>
|
|
<path class="st0" d="M34.5,85.3c23.2-2.2,58.4-14.6,16.4-32.5c-21.1-8.9,50.2,18.5-16.3,22.7"></path>
|
|
<path class="st0" d="M34.7,37.1c66.5-4.2-4.8-31.6,16.3-22.7c42.1,17.9,6.9,30.3-16.4,32.5h1.7c-66.2,4.4,4.8,31.6-16.3,22.7 c-42.1-17.9-6.9-30.3,16.4-32.5"></path>
|
|
</g>
|
|
</svg> Books</a></div><div class="jr-rhead f1 flexh"><div class="head"></div><div class="body"><div class="t">Retinal Vascular Anomalies (VHL, Cavernous Hemangioma, Wyburn-Mason)</div><div class="j">StatPearls [Internet]</div></div><div class="tail"></div></div><div id="jr-tb2"><a id="jr-bkhelp-sw" class="btn wsprkl hidden" title="Help with NLM PubReader">?</a><a id="jr-help-sw" class="btn wsprkl hidden" title="Settings and typography in NLM PubReader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 512 512" preserveAspectRatio="none"><path d="M462,283.742v-55.485l-29.981-10.662c-11.431-4.065-20.628-12.794-25.274-24.001 c-0.002-0.004-0.004-0.009-0.006-0.013c-4.659-11.235-4.333-23.918,0.889-34.903l13.653-28.724l-39.234-39.234l-28.72,13.652 c-10.979,5.219-23.68,5.546-34.908,0.889c-0.005-0.002-0.01-0.003-0.014-0.005c-11.215-4.65-19.933-13.834-24-25.273L283.741,50 h-55.484l-10.662,29.981c-4.065,11.431-12.794,20.627-24.001,25.274c-0.005,0.002-0.009,0.004-0.014,0.005 c-11.235,4.66-23.919,4.333-34.905-0.889l-28.723-13.653l-39.234,39.234l13.653,28.721c5.219,10.979,5.545,23.681,0.889,34.91 c-0.002,0.004-0.004,0.009-0.006,0.013c-4.649,11.214-13.834,19.931-25.271,23.998L50,228.257v55.485l29.98,10.661 c11.431,4.065,20.627,12.794,25.274,24c0.002,0.005,0.003,0.01,0.005,0.014c4.66,11.236,4.334,23.921-0.888,34.906l-13.654,28.723 l39.234,39.234l28.721-13.652c10.979-5.219,23.681-5.546,34.909-0.889c0.005,0.002,0.01,0.004,0.014,0.006 c11.214,4.649,19.93,13.833,23.998,25.271L228.257,462h55.484l10.595-29.79c4.103-11.538,12.908-20.824,24.216-25.525 c0.005-0.002,0.009-0.004,0.014-0.006c11.127-4.628,23.694-4.311,34.578,0.863l28.902,13.738l39.234-39.234l-13.66-28.737 c-5.214-10.969-5.539-23.659-0.886-34.877c0.002-0.005,0.004-0.009,0.006-0.014c4.654-11.225,13.848-19.949,25.297-24.021 L462,283.742z M256,331.546c-41.724,0-75.548-33.823-75.548-75.546s33.824-75.547,75.548-75.547 c41.723,0,75.546,33.824,75.546,75.547S297.723,331.546,256,331.546z"></path></svg></a><a id="jr-fip-sw" class="btn wsprkl hidden" title="Find"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 550 600" preserveAspectRatio="none"><path fill="none" stroke="#000" stroke-width="36" stroke-linecap="round" style="fill:#FFF" d="m320,350a153,153 0 1,0-2,2l170,170m-91-117 110,110-26,26-110-110"></path></svg></a><a id="jr-cmap-sw" class="btn wsprkl hidden" title="Table of Contents"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M20,20h10v8H20V20zM36,20h44v8H36V20zM20,37.33h10v8H20V37.33zM36,37.33h44v8H36V37.33zM20,54.66h10v8H20V54.66zM36,54.66h44v8H36V54.66zM20,72h10v8 H20V72zM36,72h44v8H36V72z"></path></svg></a></div></div></nav><nav id="jr-dash" class="noselect"><nav id="jr-dash" class="noselect"><div id="jr-pi" class="hidden"><a id="jr-pi-prev" class="hidden" title="Previous page"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a><div class="pginfo">Page <i class="jr-pg-pn">0</i> of <i class="jr-pg-lp">0</i></div><a id="jr-pi-next" class="hidden" title="Next page"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div><div id="jr-is-tb"><a id="jr-is-sw" class="btn wsprkl hidden" title="Switch between Figures/Tables strip and Progress bar"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><rect x="10" y="40" width="20" height="20"></rect><rect x="40" y="40" width="20" height="20"></rect><rect x="70" y="40" width="20" height="20"></rect></svg></a></div><nav id="jr-istrip" class="istrip hidden"><a id="jr-is-prev" href="#" class="hidden" title="Previous"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M80,40 60,65 80,90 70,90 50,65 70,40z M50,40 30,65 50,90 40,90 20,65 40,40z"></path><text x="35" y="25" textLength="60" style="font-size:25px">Prev</text></svg></a><a id="jr-is-next" href="#" class="hidden" title="Next"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M20,40 40,65 20,90 30,90 50,65 30,40z M50,40 70,65 50,90 60,90 80,65 60,40z"></path><text x="15" y="25" textLength="60" style="font-size:25px">Next</text></svg></a></nav><nav id="jr-progress"></nav></nav></nav><aside id="jr-links-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">NCBI Bookshelf</div></div><div class="cnt lol f1"><a href="/books/">Home</a><a href="/books/browse/">Browse All Titles</a><a class="btn share" target="_blank" rel="noopener noreferrer" href="https://www.facebook.com/sharer/sharer.php?u=https://www.ncbi.nlm.nih.gov/books/NBK603735/"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 33 33" style="vertical-align:middle" width="24" height="24" preserveAspectRatio="none"><g><path d="M 17.996,32L 12,32 L 12,16 l-4,0 l0-5.514 l 4-0.002l-0.006-3.248C 11.993,2.737, 13.213,0, 18.512,0l 4.412,0 l0,5.515 l-2.757,0 c-2.063,0-2.163,0.77-2.163,2.209l-0.008,2.76l 4.959,0 l-0.585,5.514L 18,16L 17.996,32z"></path></g></svg> Share on Facebook</a><a class="btn share" target="_blank" rel="noopener noreferrer" href="https://twitter.com/intent/tweet?url=https://www.ncbi.nlm.nih.gov/books/NBK603735/&text=Retinal%20Vascular%20Anomalies%20(VHL%2C%20Cavernous%20Hemangioma%2C%20Wyburn-Mason)"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 33 33" style="vertical-align:middle" width="24" height="24"><g><path d="M 32,6.076c-1.177,0.522-2.443,0.875-3.771,1.034c 1.355-0.813, 2.396-2.099, 2.887-3.632 c-1.269,0.752-2.674,1.299-4.169,1.593c-1.198-1.276-2.904-2.073-4.792-2.073c-3.626,0-6.565,2.939-6.565,6.565 c0,0.515, 0.058,1.016, 0.17,1.496c-5.456-0.274-10.294-2.888-13.532-6.86c-0.565,0.97-0.889,2.097-0.889,3.301 c0,2.278, 1.159,4.287, 2.921,5.465c-1.076-0.034-2.088-0.329-2.974-0.821c-0.001,0.027-0.001,0.055-0.001,0.083 c0,3.181, 2.263,5.834, 5.266,6.438c-0.551,0.15-1.131,0.23-1.73,0.23c-0.423,0-0.834-0.041-1.235-0.118 c 0.836,2.608, 3.26,4.506, 6.133,4.559c-2.247,1.761-5.078,2.81-8.154,2.81c-0.53,0-1.052-0.031-1.566-0.092 c 2.905,1.863, 6.356,2.95, 10.064,2.95c 12.076,0, 18.679-10.004, 18.679-18.68c0-0.285-0.006-0.568-0.019-0.849 C 30.007,8.548, 31.12,7.392, 32,6.076z"></path></g></svg> Share on Twitter</a></div></aside><aside id="jr-cmap-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">In Page Navigation</div></div><div class="cnt lol f1"><a href="/books/n/statpearls/?report=reader">Title Information</a><a href="/books/n/statpearls/toc/?report=reader">Table of Contents Page</a><a href="#_NBK603735_">Retinal Vascular Anomalies (VHL, Cavernous Hemangioma, Wyburn-Mason)</a></div></aside><aside id="jr-help-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">Settings</div></div><div class="cnt f1"><div id="jr-typo-p" class="typo"><div><a class="sf btn wsprkl">A-</a><a class="lf btn wsprkl">A+</a></div><div><a class="bcol-auto btn wsprkl"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 200 100" preserveAspectRatio="none"><text x="10" y="70" style="font-size:60px;font-family: Trebuchet MS, ArialMT, Arial, sans-serif" textLength="180">AUTO</text></svg></a><a class="bcol-1 btn wsprkl"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M15,25 85,25zM15,40 85,40zM15,55 85,55zM15,70 85,70z"></path></svg></a><a class="bcol-2 btn wsprkl"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M5,25 45,25z M55,25 95,25zM5,40 45,40z M55,40 95,40zM5,55 45,55z M55,55 95,55zM5,70 45,70z M55,70 95,70z"></path></svg></a></div></div><div class="lol"><a class="" href="/books/NBK603735/?report=classic">Switch to classic view</a><a href="/books/NBK603735/?report=printable">Print View</a></div></div></aside><aside id="jr-bkhelp-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">Help</div></div><div class="cnt f1 lol"><a id="jr-helpobj-sw" data-path="/corehtml/pmc/jatsreader/ptpmc_3.22/" data-href="/corehtml/pmc/jatsreader/ptpmc_3.22/img/bookshelf/help.xml" href="">Help</a><a href="mailto:info@ncbi.nlm.nih.gov?subject=PubReader%20feedback%20%2F%20NBK603735%20%2F%20sid%3ACE8B5AF87C7FFCB1_0191SID%20%2F%20phid%3ACE8E1D0C7C92052100000000001A0015.4">Send us feedback</a><a id="jr-about-sw" data-path="/corehtml/pmc/jatsreader/ptpmc_3.22/" data-href="/corehtml/pmc/jatsreader/ptpmc_3.22/img/bookshelf/about.xml" href="">About PubReader</a></div></aside><aside id="jr-objectbox" class="thidden hidden"><div class="jr-objectbox-close wsprkl">✘</div><div class="jr-objectbox-inner cnt"><div class="jr-objectbox-drawer"></div></div></aside><nav id="jr-pm-left" class="hidden"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 800" preserveAspectRatio="none"><text font-stretch="ultra-condensed" x="800" y="-15" text-anchor="end" transform="rotate(90)" font-size="18" letter-spacing=".1em">Previous Page</text></svg></nav><nav id="jr-pm-right" class="hidden"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 800" preserveAspectRatio="none"><text font-stretch="ultra-condensed" x="800" y="-15" text-anchor="end" transform="rotate(90)" font-size="18" letter-spacing=".1em">Next Page</text></svg></nav><nav id="jr-fip" class="hidden"><nav id="jr-fip-term-p"><input type="search" placeholder="search this page" id="jr-fip-term" autocorrect="off" autocomplete="off" /><a id="jr-fip-mg" class="wsprkl btn" title="Find"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 550 600" preserveAspectRatio="none"><path fill="none" stroke="#000" stroke-width="36" stroke-linecap="round" style="fill:#FFF" d="m320,350a153,153 0 1,0-2,2l170,170m-91-117 110,110-26,26-110-110"></path></svg></a><a id="jr-fip-done" class="wsprkl btn" title="Dismiss find">✘</a></nav><nav id="jr-fip-info-p"><a id="jr-fip-prev" class="wsprkl btn" title="Jump to previuos match">◀</a><button id="jr-fip-matches">no matches yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK603735_"><span class="title" itemprop="name">Retinal Vascular Anomalies (VHL, Cavernous Hemangioma, Wyburn-Mason)</span></h1><p class="contribs">Senthamizh T, Tripathy K.</p><p class="fm-aai"><a href="#_NBK603735_pubdet_">Publication Details</a></p></div></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="article-140270.s1"><h2 id="_article-140270_s1_">Continuing Education Activity</h2><p>Retinal vascular anomalies encompass a diverse range of clinically significant conditions, including capillary hemangiomas, cavernous hemangiomas, and racemose hemangiomas. Capillary hemangiomas are characterized by vascular lesions bridging the artery and vein in the retina and are often associated with Von Hippel-Lindau syndrome. These lesions can lead to visual impairment and retinal detachment. Cavernous hemangiomas are well-defined, cluster-like vascular malformations within the retina that can cause visual disturbances due to their location and impact on retinal architecture. Racemose hemangiomas are arteriovenous malformations marked by abnormal connections between arteries and veins in the retina that may pose a risk of hemorrhage. Despite their varied clinical presentations, all 3 conditions are reported to have associated life-threatening central nervous system lesions, along with skin and visceral involvement.</p><p>This activity reviews the history, clinical presentations, genetics,  treatment modalities, screening guidelines, and the importance of interprofessional collaboration in treating these disorders. Early detection and intervention are critical in reducing the risk of vision loss, morbidity, mortality, and associated complications, leading to comprehensive management within an interprofessional team.</p><p>
|
|
<b>Objectives:</b>
|
|
<ul><li class="half_rhythm"><div>Identify the etiology of retinal vascular anomalies to evaluate patients using diagnostic testing.</div></li><li class="half_rhythm"><div>Determine the clinical features of patients with retinal vascular abnormalities to deduce differential diagnoses.</div></li><li class="half_rhythm"><div>Develop a comprehensive plan to evaluate patients for retinal vascular anomalies to ensure timely diagnosis.</div></li><li class="half_rhythm"><div>Collaborate with the interprofessional team to educate, treat, and monitor patients with retinal vascular anomalies to improve outcomes.</div></li></ul>
|
|
<a href="https://www.statpearls.com/account/trialuserreg/?articleid=140270&utm_source=pubmed&utm_campaign=reviews&utm_content=140270" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Access free multiple choice questions on this topic.</a>
|
|
</p></div><div id="article-140270.s2"><h2 id="_article-140270_s2_">Introduction</h2><p>Retinal vascular anomalies are rare hereditary or sporadic conditions affecting the retina and multiple organ systems. These anomalies include vascular tumors and telangiectasias. The vascular tumors of the retina are retinal capillary hemangiomas, cavernous hemangiomas, racemose hemangiomas, and retinal vasoproliferative tumors. The retinal telangiectasias are observed in conditions such as Coats disease, Leber's miliary aneurysms, and idiopathic juxtafoveal telangiectasias.<a class="bibr" href="#article-140270.r1" rid="article-140270.r1">[1]</a></p><p>Capillary hemangiomas of the retina were first reported by Vigla in 1864 in a patient with central nervous system (CNS) lesions.<a class="bibr" href="#article-140270.r2" rid="article-140270.r2">[2]</a> Retinal capillary hemangiomas are benign vascular tumors originating from the neurosensory retina or optic disc. These tumors are sporadic or associated with Von Hippel-Lindau (VHL) syndrome.<a class="bibr" href="#article-140270.r3" rid="article-140270.r3">[3]</a> VHL syndrome is an inherited autosomal dominant disorder characterized by vascular tumors and cysts in multiple organ systems.<a class="bibr" href="#article-140270.r4" rid="article-140270.r4">[4]</a> Conditions associated with VHL syndrome include CNS and retinal hemangioblastomas, renal cell carcinoma, pheochromocytoma, pancreatic islet tumors, endolymphatic sac tumors, and epididymal, renal, and pancreatic cystadenomas.<a class="bibr" href="#article-140270.r5" rid="article-140270.r5">[5]</a><a class="bibr" href="#article-140270.r6" rid="article-140270.r6">[6]</a> The retinal tumors typically present as a reddish-orange mass in the retinal periphery, supplied by a pair of dilated and tortuous vessels.<a class="bibr" href="#article-140270.r7" rid="article-140270.r7">[7]</a> Vision loss is due to retinal exudation, detachment, vitreous hemorrhage, and neovascular glaucoma.<a class="bibr" href="#article-140270.r8" rid="article-140270.r8">[8]</a></p><p>Cavernous hemangiomas of the retina, also known as retinal cavernomas, were initially described as angiomatosis retinae by Niccol and Moore in 1934.<a class="bibr" href="#article-140270.r9" rid="article-140270.r9">[9]</a><a class="bibr" href="#article-140270.r10" rid="article-140270.r10">[10]</a> These hemangiomas are rare non-progressive retinal vascular hamartomas. In some cases, they may involve the CNS, which can cause significant morbidity and mortality if not diagnosed and treated early.</p><p>Retinal capillary hemangiomas can manifest as a solitary lesion or part of Wyburn-Mason syndrome, also known as Bonnet-Dechaume-Blanc syndrome.<a class="bibr" href="#article-140270.r11" rid="article-140270.r11">[11]</a> This rare congenital disorder is sporadic and results in arteriovenous malformations (AVM) in the retina, visual pathways, and midbrain, maxilla, and mandible regions.<a class="bibr" href="#article-140270.r12" rid="article-140270.r12">[12]</a> During ophthalmoscopic examination, dilated and tortuous vessels from the optic disc to the retinal periphery are observed.<a class="bibr" href="#article-140270.r13" rid="article-140270.r13">[13]</a> The visual acuity upon presentation ranges from normal to poor, depending on the associated complications.<a class="bibr" href="#article-140270.r14" rid="article-140270.r14">[14]</a></p></div><div id="article-140270.s3"><h2 id="_article-140270_s3_">Etiology</h2><p>The retinal capillary hemangiomas, also called retinal hemangioblastomas, may present in isolation or as a significant manifestation of VHL syndrome. Mutation in the <i>VHL</i> gene at chromosome 3p25.3 is primarily associated with this autosomal dominant syndrome.<a class="bibr" href="#article-140270.r15" rid="article-140270.r15">[15]</a> The <i>VHL</i> gene encodes the VHL protein (pVHL) responsible for the degradation of ubiquitin-mediated hypoxia-inducible factor (HIF).<a class="bibr" href="#article-140270.r16" rid="article-140270.r16">[16]</a> The inactivation of pVHL leads to sustained activation of HIF proteins, triggering angiogenesis and tumor formation in retinal hemangioblastomas.<a class="bibr" href="#article-140270.r17" rid="article-140270.r17">[17]</a></p><p>Retinal cavernous hemangiomas can be sporadic or inherited in an autosomal dominant form.<a class="bibr" href="#article-140270.r18" rid="article-140270.r18">[18]</a> Familial retinal cavernomas have associated cerebral and cutaneous involvement.<a class="bibr" href="#article-140270.r19" rid="article-140270.r19">[19]</a> In combined retinal and cerebral cavernous hemangiomas, multiple cerebral cavernous malformation gene mutations, including <i>CCM1/KRIT1</i> at chromosome 7q21.2, <i>CCM2/MGC4607</i> at chromosome 7p13, and <i>CCM3/PDCD10</i> at chromosome 3q26.1, have been identified.<a class="bibr" href="#article-140270.r20" rid="article-140270.r20">[20]</a> A somatic mutation in the <i>PIK3CA</i> gene at chromosome 3q26.32 has been reported to cause sporadic cerebral cavernous malformation, also called CCM4.<a class="bibr" href="#article-140270.r21" rid="article-140270.r21">[21]</a></p><p>Racemose hemangiomas in Wyburn-Mason syndrome occur due to a developmental abnormality that affects the primitive vascular mesoderm, shared by the developing optic cup and anterior neural tube.<a class="bibr" href="#article-140270.r12" rid="article-140270.r12">[12]</a> The anterior vascular plexus is responsible for the formation of the retinal and hyaloid vessels in the eye and the vasculature of the midbrain.<a class="bibr" href="#article-140270.r22" rid="article-140270.r22">[22]</a></p></div><div id="article-140270.s4"><h2 id="_article-140270_s4_">Epidemiology</h2><p>Retinal capillary hemangiomas represent the most common and often earliest manifestation of VHL syndrome.<a class="bibr" href="#article-140270.r23" rid="article-140270.r23">[23]</a> The prevalence of retinal capillary hemangiomas in VHL is reported to be up to 1 in 73,080 individuals, with a higher occurrence observed in Europeans compared to non-Europeans.<a class="bibr" href="#article-140270.r24" rid="article-140270.r24">[24]</a><a class="bibr" href="#article-140270.r25" rid="article-140270.r25">[25]</a> Patients with solitary retinal hemangiomas have a 30% to 46% chance of developing VHL at a later stage.<a class="bibr" href="#article-140270.r26" rid="article-140270.r26">[26]</a> The mean age of diagnosis of retinal capillary hemangiomas in VHL is 25 years.<a class="bibr" href="#article-140270.r27" rid="article-140270.r27">[27]</a> Both men and women are equally affected. VHL-associated tumors are typically bilateral or multiple. Evidence of genetic anticipation exists; the earlier the onset, the more severe the presentation is in successive generations.<a class="bibr" href="#article-140270.r28" rid="article-140270.r28">[28]</a> The average life expectancy of patients with VHL syndrome is between ages 40 and 52, with CNS hemangioblastomas being the primary cause of mortality.<a class="bibr" href="#article-140270.r29" rid="article-140270.r29">[29]</a></p><p>Cavernous hemangiomas of the retina are more common in White patients, with no apparent gender predilection. The median age of presentation is 21.<a class="bibr" href="#article-140270.r30" rid="article-140270.r30">[30]</a> Familial type of cavernous malformations has an autosomal dominant inheritance with high penetrance and variable expressivity.<a class="bibr" href="#article-140270.r31" rid="article-140270.r31">[31]</a> The frequency of retinal cavernous hemangiomas is estimated at 5% in patients with familial cerebral cavernous hemangiomas.<a class="bibr" href="#article-140270.r10" rid="article-140270.r10">[10]</a></p><p>The exact prevalence of racemose hemangiomas is not known due to their rarity.<a class="bibr" href="#article-140270.r32" rid="article-140270.r32">[32]</a> No racial or gender preference is recognized. The mean age of presentation is before the third decade of life.<a class="bibr" href="#article-140270.r22" rid="article-140270.r22">[22]</a> Hemodynamic changes in high-flow arteriovenous malformations can result in intra-lesional vessel wall involution, potentially leading to retinal or choroidal ischemia and degeneration.<a class="bibr" href="#article-140270.r33" rid="article-140270.r33">[33]</a> Minor arteriovenous malformations may remain asymptomatic and are diagnosed at a later stage.<a class="bibr" href="#article-140270.r34" rid="article-140270.r34">[34]</a></p></div><div id="article-140270.s5"><h2 id="_article-140270_s5_">Pathophysiology</h2><p>In VHL syndrome, a mutation in the <i>VHL</i> gene leads to the inactivation of pVHL.<a class="bibr" href="#article-140270.r35" rid="article-140270.r35">[35]</a> This failure of hypoxia-inducible factor degradation creates a pseudo-hypoxia state, leading to dysregulated angiogenesis, cellular proliferation, and a shift in glycolytic metabolism, thereby promoting the formation of hemangioblastomas.<a class="bibr" href="#article-140270.r36" rid="article-140270.r36">[36]</a> The <i>VHL</i> gene exhibits 3 types of mutations, each with distinct characteristics as follows:</p><ul><li class="half_rhythm"><div>The first type of mutation is a deletion or nonsense mutation, typically observed in isolated hemangioblastomas.</div></li><li class="half_rhythm"><div>The second type of mutation is a missense mutation, which is further classified into 3 subtypes—type 2A, type 2B, and type 2C. In type 2A, patients exhibit both hemangioblastomas and pheochromocytomas. In contrast, in type 2B, patients also present with renal cell carcinomas. Type 2C is characterized by the presence of only pheochromocytomas. Missense mutations are predominantly found in patients with retinal cavernous hemangiomas.<b> </b></div></li><li class="half_rhythm"><div>The third type of mutation, known as type 3, is associated with polycythemia.<a class="bibr" href="#article-140270.r37" rid="article-140270.r37">[37]</a><a class="bibr" href="#article-140270.r38" rid="article-140270.r38">[38]</a></div></li></ul><p>Retinal cavernous hemangiomas have been described as localized vascular hamartomas partly separated from the normal retinal vascular system or as congenital venous malformations with the same growth potential as VHL syndrome.<a class="bibr" href="#article-140270.r39" rid="article-140270.r39">[39]</a> The saccular dilatations in the hemangiomas exhibit the anatomy of normal retinal vessels, explaining the lack of exudation or hemorrhage.<a class="bibr" href="#article-140270.r40" rid="article-140270.r40">[40]</a> </p><p>Retinal hemangiomas in Wyburn-Mason syndrome occur due to a developmental defect in the primitive vascular plexus.<a class="bibr" href="#article-140270.r41" rid="article-140270.r41">[41]</a> Disturbing tissue before the seventh week of gestation can result in anomalous vessels in the eye and ipsilateral mesencephalon.<a class="bibr" href="#article-140270.r12" rid="article-140270.r12">[12]</a> However, if the disturbance occurs after the seventh week of pregnancy, it will only affect one of the structures.<a class="bibr" href="#article-140270.r42" rid="article-140270.r42">[42]</a> The direct communication between arterial and venous systems in high-flow arteriovenous malformations leads to turbulent blood flow, damage to the vessel walls, thrombosis, and vessel occlusion.<a class="bibr" href="#article-140270.r43" rid="article-140270.r43">[43]</a> High-flow arteriovenous malformations can sometimes cause edema from capillary leakage or pressure changes.<a class="bibr" href="#article-140270.r44" rid="article-140270.r44">[44]</a> </p></div><div id="article-140270.s6"><h2 id="_article-140270_s6_">Histopathology</h2><p>Histopathological examination of retinal capillary hemangiomas shows the presence of unusual capillary-like channels occupying all the layers of the retina that are surrounded by foamy cells with vacuoles.<a class="bibr" href="#article-140270.r45" rid="article-140270.r45">[45]</a><a class="bibr" href="#article-140270.r46" rid="article-140270.r46">[46]</a> The tumors do not have endothelial cells; some may have reactive glial proliferation at the edges of larger hemangioblastomas. Chan et al have reported the presence of sporadic tumorlet cells in ocular VHL-associated lesions.<a class="bibr" href="#article-140270.r47" rid="article-140270.r47">[47]</a> These cells form angio-mesenchymal islands and are frequently adjacent to small retinal vessels or within the inner retinal layers. Ocular hemangioblastomas exhibit high levels of cellular markers, including CD133, erythropoietin, and erythropoietin receptor.<a class="bibr" href="#article-140270.r48" rid="article-140270.r48">[48]</a></p><p>Histopathological examination of retinal cavernous hemangioma shows the presence of large-sized vascular spaces lined by normal endothelium involving all the retinal layers. These vessels are surrounded by thick fibroglial septa, occasionally containing glial cells.<a class="bibr" href="#article-140270.r49" rid="article-140270.r49">[49]</a> Upon ultrastructural examination, the vessels are lined by a continuous layer of non-fenestrated endothelial cells, which exhibit terminal bars on the luminal side and a thin, uninterrupted basal membrane. The basal membrane is further surrounded by an interrupted layer of pericytes encased by their basal membrane.<a class="bibr" href="#article-140270.r40" rid="article-140270.r40">[40]</a></p><p>Retinal hemangiomas have a lack of histopathological data. Distinguishing between arteries and veins is complex, and the lesions occupy the entire retina thickness. The abnormal vessels are made of fibromuscular media and acellular adventitious sheath.<a class="bibr" href="#article-140270.r34" rid="article-140270.r34">[34]</a></p></div><div id="article-140270.s7"><h2 id="_article-140270_s7_">History and Physical</h2><p>The presentation of retinal capillary hemangiomas depends on the size and location of the tumor. Family history plays an essential role in identifying VHL syndrome. The usual complaint is progressive vision loss.<a class="bibr" href="#article-140270.r13" rid="article-140270.r13">[13]</a> Cerebellar hemangioblastomas may present with headache, vomiting, ataxia, and sensory and motor deficits.<a class="bibr" href="#article-140270.r50" rid="article-140270.r50">[50]</a> Endolymphatic sac tumors are rare and typically present with symptoms such as aural fullness, disequilibrium, and hearing loss. Pancreatic and renal cysts are typically asymptomatic.<a class="bibr" href="#article-140270.r51" rid="article-140270.r51">[51]</a> Patients with adrenal pheochromocytomas present with sweating, palpitation, hypertension, pallor, headache, or nausea.<a class="bibr" href="#article-140270.r52" rid="article-140270.r52">[52]</a> Many lesions are detected incidentally on routine dilated fundus examination. Cystadenomas of the epididymis, if present bilaterally, can rarely cause infertility.<a class="bibr" href="#article-140270.r53" rid="article-140270.r53">[53]</a></p><p>Cavernous hemangiomas are usually asymptomatic but can present with a mild-to-moderate decrease in visual acuity.<a class="bibr" href="#article-140270.r54" rid="article-140270.r54">[54]</a> CNS involvement may present with headaches, seizures, and visual disturbances.<a class="bibr" href="#article-140270.r10" rid="article-140270.r10">[10]</a> Retinal hemangiomas of the eye are asymptomatic in smaller arteriovenous malformations and are incidentally detected during a routine examination.<a class="bibr" href="#article-140270.r22" rid="article-140270.r22">[22]</a> Larger arteriovenous malformations may cause severe vision loss, and they present with vitreous hemorrhage, retinal detachment, venous occlusions, optic disc edema, and optic atrophy.<a class="bibr" href="#article-140270.r55" rid="article-140270.r55">[55]</a> Neurological symptoms include headache, seizures, hemiparesis, cranial neuropathies, and hydrocephalus.<a class="bibr" href="#article-140270.r12" rid="article-140270.r12">[12]</a></p></div><div id="article-140270.s8"><h2 id="_article-140270_s8_">Evaluation</h2><p>The diagnosis of retinal capillary hemangiomas is made through clinical examination.<a class="bibr" href="#article-140270.r56" rid="article-140270.r56">[56]</a> Dilated ophthalmoscopic examination reveals a reddish-orange mass with dilated and tortuous afferent arterioles and efferent venules (see <b>Image</b>. Retinal Capillary Hemangioma). The most common location is the mid-peripheral temporal quadrant of the retina.<a class="bibr" href="#article-140270.r57" rid="article-140270.r57">[57]</a> However, 15% of the lesions are in the juxtapapillary or peripapillary retina.<a class="bibr" href="#article-140270.r7" rid="article-140270.r7">[7]</a> The incipient lesions appear as small aneurysmal dilatations of retinal capillaries. The optic nerve hemangioblastomas lack the feeding artery and draining vein, as observed in retinal hemangioblastomas, and are often misdiagnosed. Three types of optic nerve hemangioblastomas are endophytic, exophytic, and sessile.<a class="bibr" href="#article-140270.r58" rid="article-140270.r58">[58]</a> </p><ul><li class="half_rhythm"><div>Endophytic tumors appear as round, reddish lesions projecting into the pre-papillary vitreous.</div></li><li class="half_rhythm"><div>Exophytic lesions extend from the disc margin to the sub-retinal space and appear as a yellow, nodular tumor. </div></li><li class="half_rhythm"><div>Sessile types are challenging to detect as they appear as a localized thickening at the neuroretinal rim without prominent coloration. Sessile hemangioblastomas at the juxtapapillary retina show vascularity on optical coherence tomography angiography (OCTA).<a class="bibr" href="#article-140270.r52" rid="article-140270.r52">[52]</a><a class="bibr" href="#article-140270.r59" rid="article-140270.r59">[59]</a><a class="bibr" href="#article-140270.r60" rid="article-140270.r60">[60]</a></div></li></ul><p>Fundus fluorescein angiography (FFA) is the most important diagnostic tool due to the tumor's vascular nature<i>.</i><a class="bibr" href="#article-140270.r61" rid="article-140270.r61">[61]</a> This technique is useful in detecting subclinical pinpoint tumors as small as the width of a third-order retinal artery and in detecting leakage from the mass into the vitreous cavity and adjacent retina in patients with distant macular edema.<a class="bibr" href="#article-140270.r62" rid="article-140270.r62">[62]</a> Ultrasonography shows an acoustically solid intraocular tumor with or without surrounding subretinal fluid.<a class="bibr" href="#article-140270.r52" rid="article-140270.r52">[52]</a> Optical coherence tomography (OCT) shows intraretinal tumors involving the entire retinal thickness and associated retinal changes such as retinal edema, hard exudates (hyperreflective lesions), and the epiretinal membrane.<a class="bibr" href="#article-140270.r63" rid="article-140270.r63">[63]</a> OCTA helps measure the dimensions and visualize the tumor's structure and response to treatment.<a class="bibr" href="#article-140270.r64" rid="article-140270.r64">[64]</a> On OCTA, the lesions are bright, well-defined, and elevated, involving superficial and deeper retinal layers or surrounded by void areas in the deep capillary plexus.<a class="bibr" href="#article-140270.r65" rid="article-140270.r65">[65]</a></p><ul><li class="half_rhythm"><div>CNS hemangioblastomas most frequently occur in the cerebellum (60%), spinal cord (30%), and brainstem (10%) and rarely involve optic pathways and choroidal plexus (1%). Magnetic resonance imaging (MRI) of the brain can show nodular lesions with adjacent cysts.</div></li><li class="half_rhythm"><div>Endolymphatic sac tumors are rare and appear as enhancing cysts in MRI.</div></li><li class="half_rhythm"><div>Renal manifestations include benign renal cysts and clear cell renal carcinomas diagnosed using MRI.</div></li><li class="half_rhythm"><div>Pheochromocytomas are found in approximately 20% of patients with VHL syndrome, and they are diagnosed by testing urinary catecholamines and plasma-free metanephrines compounded with abdominal ultrasound and MRI.</div></li><li class="half_rhythm"><div>Pancreatic manifestations, such as cysts, serous cystadenomas, and neuroendocrine tumors, are typically asymptomatic and are identified through MRI.</div></li><li class="half_rhythm"><div>Epididymal cysts are found in 25% to 60% of men and can be identified by palpation. Ultrasound demonstrates a solid mass; sometimes, cystic lesions can be noted.<a class="bibr" href="#article-140270.r52" rid="article-140270.r52">[52]</a><a class="bibr" href="#article-140270.r66" rid="article-140270.r66">[66]</a><a class="bibr" href="#article-140270.r67" rid="article-140270.r67">[67]</a><a class="bibr" href="#article-140270.r68" rid="article-140270.r68">[68]</a><a class="bibr" href="#article-140270.r69" rid="article-140270.r69">[69]</a><a class="bibr" href="#article-140270.r70" rid="article-140270.r70">[70]</a></div></li></ul><p>Genetic testing to identify <i>VHL</i> gene mutation can benefit family members using southern blot and multiplex ligation-dependent probe amplification techniques.<a class="bibr" href="#article-140270.r71" rid="article-140270.r71">[71]</a></p><p>Cavernous vascular hemangioma of the retina can be diagnosed through dilated fundoscopy. The lesions appear as demarcated dark, intraretinal grape-like clusters of dilated and saccular blood vessels along the retinal vein or on the optic disc (see <b>Image.</b> Retinal Cavernous Hemangioma).<a class="bibr" href="#article-140270.r72" rid="article-140270.r72">[72]</a> Aneurysms may be small and subtle or extensive, involving multiple quadrants of the retina.<a class="bibr" href="#article-140270.r73" rid="article-140270.r73">[73]</a> These aneurysms are raised above the retinal surface, with grey and white glial zones covering the surface due to prior recurrent hemorrhages.<a class="bibr" href="#article-140270.r74" rid="article-140270.r74">[74]</a> FFA typically shows hypofluorescence in the arterial phase with a slow appearance of fluorescein within the venous aneurysms.<a class="bibr" href="#article-140270.r32" rid="article-140270.r32">[32]</a> Aneurysm filling is characterized by a fluorescein-erythrocyte interface. Red blood cells settle at the bottom leaving plasma on the top, creating fluorescein-blood levels.<a class="bibr" href="#article-140270.r75" rid="article-140270.r75">[75]</a> OCT demonstrates a lobulated hyperreflective mass with clear cystic spaces.<a class="bibr" href="#article-140270.r76" rid="article-140270.r76">[76]</a> Ultrasonography shows a well-defined, acoustically solid mass and helps detect large tumors obscured by vitreous hemorrhage. Familial forms of cavernous hemangiomas are associated with cutaneous and cerebral cavernous hemangiomas. Cerebral cavernous hemangioma presents with headaches, seizures, and transient visual disturbances. Cerebral cavernous hemangiomas are<b> </b>3 times more common in the supratentorial part of the brain compared to in the infratentorial part of the brain.<a class="bibr" href="#article-140270.r32" rid="article-140270.r32">[32]</a> Brain MRI is needed to identify CNS cavernomas.<a class="bibr" href="#article-140270.r30" rid="article-140270.r30">[30]</a> Genetic testing for <i>CCM</i> genes should be completed in appropriate clinical settings in case of multiple hemangiomas or positive family history.<a class="bibr" href="#article-140270.r77" rid="article-140270.r77">[77]</a></p><p>Ophthalmoscopic examination of retinal racemose angiomas shows a large, dilated, tortuous retinal artery extending from the optic disc and directly connecting to the retinal vein without any intervening capillaries (see <b>Image</b>. Retinal Racemose Angioma).<a class="bibr" href="#article-140270.r13" rid="article-140270.r13">[13]</a><a class="bibr" href="#article-140270.r78" rid="article-140270.r78">[78]</a> Arteriovenous communications of the retina or retinal arteriovenous malformations can be classified into three groups based on their characteristics.<a class="bibr" href="#article-140270.r33" rid="article-140270.r33">[33]</a><a class="bibr" href="#article-140270.r79" rid="article-140270.r79">[79]</a></p><ul><li class="half_rhythm"><div>Group 1 involves an arteriolar or abnormal capillary plexus between the retinal artery and vein.</div></li><li class="half_rhythm"><div>Group 2 involves direct arteriovenous communication without an intervening capillary plexus. Type 1 and type 2 lesions typically do not involve the CNS.</div></li><li class="half_rhythm"><div>Group 3 involves arteriovenous shunts with large convoluted vessels. The retinal arteries and veins cannot be differentiated. Such lesions are typical of congenital retinocephalofacial vascular malformation syndrome or Wyburn Mason syndrome, with a high incidence of central nervous system lesions.<a class="bibr" href="#article-140270.r80" rid="article-140270.r80">[80]</a><a class="bibr" href="#article-140270.r81" rid="article-140270.r81">[81]</a></div></li></ul><p>Typically, no exudation or hemorrhage is present. FFA findings show rapid filling of the affected blood vessels without any leakage. OCTA is a better tool for detecting the vessel of origin and resolving associated leaking macroaneurysms following treatment (focal laser). Some associated macroaneurysms may have spontaneous thrombosis.<a class="bibr" href="#article-140270.r82" rid="article-140270.r82">[82]</a> Vascular lesions in the CNS commonly affect the midbrain and tend to occur on the same side as the affected eye.<a class="bibr" href="#article-140270.r32" rid="article-140270.r32">[32]</a> Intracranial arteriovenous malformations are diagnosed using imaging techniques such as computed tomography (CT), MRI, and magnetic resonance angiography (MRA).</p></div><div id="article-140270.s9"><h2 id="_article-140270_s9_">Treatment / Management</h2><p>Treatment of capillary hemangiomas is decided based on the tumor location, number, size, and secondary effects. Inactive fibrotic lesions can be left untreated. Laser photocoagulation is an effective treatment modality for smaller capillary hemangiomas with basal diameters up to 4 mm.<a class="bibr" href="#article-140270.r83" rid="article-140270.r83">[83]</a> Alternatively, cryotherapy can manage tumors up to 5 mm but requires multiple sessions to achieve optimal results.<a class="bibr" href="#article-140270.r84" rid="article-140270.r84">[84]</a> However, cryotherapy can cause a transient increase in exudative or tractional vitreoretinopathy.<a class="bibr" href="#article-140270.r85" rid="article-140270.r85">[85]</a> More extensive tumors require external beam radiotherapy, plaque brachytherapy, or proton beam therapy.<a class="bibr" href="#article-140270.r86" rid="article-140270.r86">[86]</a> Advanced cases with exudative and tractional retinal detachment may need vitreoretinal surgery.<a class="bibr" href="#article-140270.r7" rid="article-140270.r7">[7]</a> Surgical endoresection of the tumor can improve visual outcomes with minimal sequelae. Endodiathermy or feeder vessel ligation may reduce the risk of intraoperative bleeding and provide better tumor control.<a class="bibr" href="#article-140270.r87" rid="article-140270.r87">[87]</a> Juxtapapillary retinal hemangiomas can pose a significant challenge to treat due to their location in the papillomacular bundle.<a class="bibr" href="#article-140270.r88" rid="article-140270.r88">[88]</a> However, verteporfin photodynamic therapy has shown promise as an effective treatment option for these lesions.<a class="bibr" href="#article-140270.r89" rid="article-140270.r89">[89]</a> The ability to cause selective vascular occlusion with lesser damage to the optic nerve makes it a viable alternative.<a class="bibr" href="#article-140270.r90" rid="article-140270.r90">[90]</a> </p><p>The results of several case reports have suggested that combined anti-vascular endothelial growth factor (anti-VEGF) agents and photodynamic therapy may hold promise as a therapeutic option for certain retinal hemangiomas.<a class="bibr" href="#article-140270.r91" rid="article-140270.r91">[91]</a> Belzutifan is a HIF-2-α inhibitor and is the first Food and Drug Administration (FDA)-approved systemic oral drug for VHL-associated tumors such as renal cell carcinoma, CNS hemangioblastoma, and pancreatic neuroendocrine tumors. The most common adverse effects include anemia, nausea, headache, and raised blood glucose, and it is harmful in pregnancy.<a class="bibr" href="#article-140270.r92" rid="article-140270.r92">[92]</a> Sunitinib, a tyrosine kinase inhibitor, has shown promising results in treating renal carcinomas in VHL syndrome but has not been effective in treating hemangioblastomas.<a class="bibr" href="#article-140270.r93" rid="article-140270.r93">[93]</a> However, disease progression, fatigue, and hand-foot syndrome were noted in patients with advanced VHL disease.<a class="bibr" href="#article-140270.r94" rid="article-140270.r94">[94]</a> Dovitinib, a tyrosine kinase inhibitor of the VEGF receptor and fibroblast growth factor, also resulted in adverse effects such as maculopapular rash, diarrhea, and fatigue.<a class="bibr" href="#article-140270.r95" rid="article-140270.r95">[95]</a> Pazopanib has demonstrated clinical responses in renal tumors of VHL despite adverse effects such as diarrhea, hypertension, fatigue, and transaminitis.<a class="bibr" href="#article-140270.r96" rid="article-140270.r96">[96]</a> </p><p>Retinal cavernous hemangiomas typically remain stable and asymptomatic and, therefore, do not require intervention.<a class="bibr" href="#article-140270.r30" rid="article-140270.r30">[30]</a> Mild vitreous or retinal bleeding generally resolves spontaneously without medical intervention.<a class="bibr" href="#article-140270.r32" rid="article-140270.r32">[32]</a> However, if the subretinal or vitreous hemorrhage is severe, cryotherapy and laser photocoagulation may be recommended as potential treatment options.<a class="bibr" href="#article-140270.r97" rid="article-140270.r97">[97]</a> Systemic infliximab infusion has been reported to cause temporary tumor regression.<a class="bibr" href="#article-140270.r98" rid="article-140270.r98">[98]</a> Recently, photodynamic therapy has proven to be a safer option for patients with symptomatic hemangiomas.<a class="bibr" href="#article-140270.r99" rid="article-140270.r99">[99]</a> </p><p>The management approach for retinal hemangiomas depends on the location of the arteriovenous malformations and the associated symptoms. Conservative management is typically recommended for asymptomatic arteriovenous malformations. However, symptomatic cases with complications, such as retinal ischemia, may necessitate laser photocoagulation, pars plana vitrectomy to address non-clearing vitreous hemorrhage, or cyclo-destructive procedures for painful blind eye caused by neovascular glaucoma.<a class="bibr" href="#article-140270.r100" rid="article-140270.r100">[100]</a> Intracranial arteriovenous malformations can be treated with embolization.<a class="bibr" href="#article-140270.r101" rid="article-140270.r101">[101]</a></p></div><div id="article-140270.s10"><h2 id="_article-140270_s10_">Differential Diagnosis</h2><p>The differential diagnosis of retinal capillary hemangiomas includes cavernous hemangiomas, retinal hemangiomas, retinal macroaneurysms, and retinal vasoproliferative tumors.</p><p>Vasoproliferative tumors of the retina are benign reactive vascular proliferations secondary to retinal ischemia or injury<i>.</i> This condition is typically non-familial and has no systemic association.<a class="bibr" href="#article-140270.r102" rid="article-140270.r102">[102]</a> Most tumors are idiopathic, whereas the rest occur secondary to other ocular conditions such as retinitis pigmentosa, Coats disease, uveitis, and retinal detachment.<a class="bibr" href="#article-140270.r103" rid="article-140270.r103">[103]</a> The lesions are yellowish-red and typically occur in the inferotemporal peripheral retina.<a class="bibr" href="#article-140270.r104" rid="article-140270.r104">[104]</a> Differentiation from capillary hemangiomas is possible due to their location at the extreme periphery in the inferior retinal quadrant and the absence of prominent feeder vessels.<a class="bibr" href="#article-140270.r32" rid="article-140270.r32">[32]</a> Management of vasoproliferative tumors depends on the presence of visual disturbances and the lesion size.<i> </i>The smaller and peripheral lesions require only observation. The treatment modalities include laser photocoagulation, transpupillary thermotherapy, cryotherapy, intravitreal anti-VEGF injections, or vitreoretinal surgery, depending on the complications.<a class="bibr" href="#article-140270.r105" rid="article-140270.r105">[105]</a></p><p>Differentiating cavernous hemangiomas of the retina from other idiopathic retinal telangiectasias, such as Coats disease and Leber's miliary aneurysm, is less challenging. These conditions are characterized by progressive vascular dilatation resulting in intraretinal and subretinal exudation.<a class="bibr" href="#article-140270.r13" rid="article-140270.r13">[13]</a> The aneurysms are typically single and located along the retinal vessels adjacent to the areas of ischemia. Fluorescein angiography can assist in diagnosis by detecting early leakage from capillaries with adjacent capillary non-perfusion areas.<a class="bibr" href="#article-140270.r106" rid="article-140270.r106">[106]</a></p><p>Retinal arteriovenous malformations associated with facial arteriovenous malformations should be differentiated from Sturge-Weber Syndrome if port-wine stains appear on the face or are associated with congenital glaucoma.</p><p>Other differential diagnoses include:</p><ul><li class="half_rhythm"><div>Inflammatory granuloma related to tuberculosis and sarcoidosis</div></li><li class="half_rhythm"><div>Exudative vascular anomalous complex or retinal capillary macroaneurysm</div></li><li class="half_rhythm"><div>Perifoveal exudative vascular anomalous complex</div></li><li class="half_rhythm"><div>Macroaneurysm</div></li><li class="half_rhythm"><div>Congenital retinal marovessel <a class="bibr" href="#article-140270.r107" rid="article-140270.r107">[107]</a><a class="bibr" href="#article-140270.r108" rid="article-140270.r108">[108]</a><a class="bibr" href="#article-140270.r109" rid="article-140270.r109">[109]</a><a class="bibr" href="#article-140270.r110" rid="article-140270.r110">[110]</a><a class="bibr" href="#article-140270.r111" rid="article-140270.r111">[111]</a></div></li></ul></div><div id="article-140270.s11"><h2 id="_article-140270_s11_">Prognosis</h2><p>The visual prognosis of retinal capillary hemangiomas depends upon several factors, including the size, location, number, and amount of exudation.<a class="bibr" href="#article-140270.r101" rid="article-140270.r101">[101]</a> Patients with multiple tumors are at a greater risk of developing new lesions and thus require more frequent follow-up.<a class="bibr" href="#article-140270.r112" rid="article-140270.r112">[112]</a> Approximately 25% of cases may result in permanent visual loss, and roughly 20% of patients experience visual acuity of 20/100 or less in at least 1 eye.<a class="bibr" href="#article-140270.r57" rid="article-140270.r57">[57]</a> The type of mutations in the <i>VHL</i> gene has been found to affect the visual prognosis.<a class="bibr" href="#article-140270.r113" rid="article-140270.r113">[113]</a> Individuals with truncated VHL proteins had lesser visual morbidity compared to those with missense mutations, who developed more aggressive and multiple retinal cavernous hemangiomas with higher complication rates.<a class="bibr" href="#article-140270.r114" rid="article-140270.r114">[114]</a> </p><p>Retinal cavernous hemangiomas are generally considered asymptomatic and non-progressive. In rare cases, vitreous hemorrhage may occur, which is typically self-limiting.<a class="bibr" href="#article-140270.r32" rid="article-140270.r32">[32]</a> However, cerebral cavernous hemangiomas may result in severe complications such as seizures, intracranial hemorrhages, and even death.<a class="bibr" href="#article-140270.r18" rid="article-140270.r18">[18]</a> Routine neuroimaging tests are recommended for early detection and management of the condition.<a class="bibr" href="#article-140270.r30" rid="article-140270.r30">[30]</a></p><p>The prognosis of hemangiomas of the retina is good unless patients develop complications such as macular edema, vitreous hemorrhage, and neovascular glaucoma.<a class="bibr" href="#article-140270.r115" rid="article-140270.r115">[115]</a> Vision loss occurs due to the orbital-cranial arteriovenous malformations causing compressive optic neuropathy.<a class="bibr" href="#article-140270.r116" rid="article-140270.r116">[116]</a> Patients with intracranial arteriovenous malformations have poor outcomes after surgical resection if the lesion is located around the optic chiasma.<a class="bibr" href="#article-140270.r117" rid="article-140270.r117">[117]</a></p></div><div id="article-140270.s12"><h2 id="_article-140270_s12_">Complications</h2><p>The most common complication of retinal capillary hemangiomas is the formation of epiretinal membrane and subretinal fluid.<a class="bibr" href="#article-140270.r37" rid="article-140270.r37">[37]</a> Retinal exudation and proliferative gliosis are the significant causes of visual impairment in about 50% of the affected individuals.<a class="bibr" href="#article-140270.r118" rid="article-140270.r118">[118]</a> A retrospective analysis of 18 patients revealed that eyes with tractional or exudative retinal detachment exhibited poor visual acuity at follow-up.<a class="bibr" href="#article-140270.r119" rid="article-140270.r119">[119]</a> Visual loss in retinal capillary hemangioma is due to retinal exudation, fibrovascular proliferation, rhegmatogenous or tractional retinal detachment, macular hole, and glaucoma.<a class="bibr" href="#article-140270.r8" rid="article-140270.r8">[8]</a></p><p>Retinal cavernous hemangiomas are non-progressive with minimal complications, the most common being vitreous hemorrhage.<a class="bibr" href="#article-140270.r39" rid="article-140270.r39">[39]</a> Exudation is rare, and fibroglial tissue may develop over the tumor surface, which can cause visual impairment if the tumor is located at the macula.<a class="bibr" href="#article-140270.r40" rid="article-140270.r40">[40]</a><a class="bibr" href="#article-140270.r120" rid="article-140270.r120">[120]</a></p><p>Retinal arteriovenous malformations in Wyburn-Mason syndrome can result in various complications, including macular edema, retinal ischemia, retinal vein occlusion, vitreous hemorrhage, and neovascular glaucoma.<a class="bibr" href="#article-140270.r121" rid="article-140270.r121">[121]</a> Arteriovenous malformations in the maxillary and mandibular region can lead to profuse bleeding during dental or maxillofacial surgical procedures<i>.</i><a class="bibr" href="#article-140270.r122" rid="article-140270.r122">[122]</a></p></div><div id="article-140270.s13"><h2 id="_article-140270_s13_">Deterrence and Patient Education</h2><p>Early detection of retinal vascular anomalies and frequent follow-up are crucial for avoiding severe complications. Individuals with a proven <i>VHL</i> mutation or a positive family history should undergo annual screening for blood pressure and visual, auditory, and neurological manifestations from the first year of age. Urinary or blood metanephrines can be tested annually from age 5 to rule out pheochromocytomas.<a class="bibr" href="#article-140270.r123" rid="article-140270.r123">[123]</a> MRI of the brain and spine and abdominal ultrasonography is recommended every 2 years from age 16.<a class="bibr" href="#article-140270.r51" rid="article-140270.r51">[51]</a> In symptomatic patients, an MRI of the internal auditory canal can detect endolymphatic sac tumors.<a class="bibr" href="#article-140270.r124" rid="article-140270.r124">[124]</a> Ocular screening should be performed every 6 to 12 months until age 30 and yearly.<a class="bibr" href="#article-140270.r125" rid="article-140270.r125">[125]</a> Familial forms of cavernous hemangiomas of the retina are typically bilateral and associated with cutaneous and CNS hemangiomas, making it necessary to screen at-risk family members for cerebral hemangiomas with MRI brain.<a class="bibr" href="#article-140270.r74" rid="article-140270.r74">[74]</a></p></div><div id="article-140270.s14"><h2 id="_article-140270_s14_">Pearls and Other Issues</h2><p>Patients with retinal vascular anomalies should be aware of the possibility of systemic involvement and the importance of periodic screenings for ocular and systemic abnormalities. Such screenings can be crucial in detecting life-threatening conditions. Patients with a positive genetic test for <i>VHL</i> should be referred to a clinical geneticist for appropriate management, and those planning for pregnancy should receive education on fertility issues and the need for prenatal genetic testing. Screening first-degree relatives of patients with multiple organ involvement is also imperative. In cases of cavernous or racemose hemangiomas, ruling out cerebral involvement is essential, which can result in life-threatening intracranial hemorrhage.<a class="bibr" href="#article-140270.r126" rid="article-140270.r126">[126]</a> Asymptomatic lesions can be closely monitored without the need for intracranial surgeries.</p></div><div id="article-140270.s15"><h2 id="_article-140270_s15_">Enhancing Healthcare Team Outcomes </h2><p>Retinal vascular anomalies are rare, but early identification and management are critical for reducing significant mortality and morbidity. A dedicated nurse can be assigned as a case manager to assist the treating clinician in providing psychosocial care and ensuring that the patient attends the clinic on the scheduled appointment dates and follows the screening protocols. A supportive multi-disciplinary team comprising physicians, nurses, radiologists, neurologists, geneticists, ophthalmologists, endocrinologists, and ear-nose-throat specialists can improve care in such patients.<a class="bibr" href="#article-140270.r34" rid="article-140270.r34">[34]</a></p><p>All healthcare professionals involved in patient care should possess the clinical skills and knowledge to manage the condition and be aware of the potential complications. In addition, a strategic approach according to evidence-based guidelines is essential for the management and screening of the condition. Ethical considerations must guide decision-making for treatment, and patients should receive thorough counseling regarding the available treatment options to ensure that treatment aligns with their preferences. Effective coordination, communication, and teamwork are crucial for delivering expert patient care, from screening to management.<a class="bibr" href="#article-140270.r127" rid="article-140270.r127">[127]</a><a class="bibr" href="#article-140270.r128" rid="article-140270.r128">[128]</a></p></div><div id="article-140270.s16"><h2 id="_article-140270_s16_">Review Questions</h2><ul><li class="half_rhythm"><div>
|
|
<a href="https://www.statpearls.com/account/trialuserreg/?articleid=140270&utm_source=pubmed&utm_campaign=reviews&utm_content=140270" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Access free multiple choice questions on this topic.</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="https://mdsearchlight.com/eye-health/retinal-vascular-anomalies-vhl-cavernous-hemangioma-wyburn-mason/?utm_source=pubmedlink&utm_campaign=MDS&utm_content=140270" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Click here for a simplified version.</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="https://www.statpearls.com/articlelibrary/commentarticle/140270/?utm_source=pubmed&utm_campaign=comments&utm_content=140270" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Comment on this article.</a>
|
|
</div></li></ul></div><div class="floats-group" id="article-140270.s17"><div class="iconblock whole_rhythm clearfix ten_col fig" id="figarticle140270imagef1" co-legend-rid="figlgndarticle140270imagef1"><a href="/books/NBK603735/figure/article-140270.image.f1/?report=objectonly" target="object" title="Figure" class="img_link icnblk_img figpopup" rid-figpopup="figarticle140270imagef1" rid-ob="figobarticle140270imagef1"><img class="small-thumb" src="/books/NBK603735/bin/rch.gif" src-large="/books/NBK603735/bin/rch.jpg" alt="Retinal Capillary Hemangioma" /></a><div class="icnblk_cntnt" id="figlgndarticle140270imagef1"><h4 id="article-140270.image.f1"><a href="/books/NBK603735/figure/article-140270.image.f1/?report=objectonly" target="object" rid-ob="figobarticle140270imagef1">Figure</a></h4><p class="float-caption no_bottom_margin">Retinal Capillary Hemangioma. The image displays dilated vessels connected to the red hemangioblastoma, alongside scars from previous laser treatment and a newly observed lesion in the lower portion. Contributed by K Tripathy, MD </p></div></div></div><div class="floats-group" id="article-140270.s18"><div class="iconblock whole_rhythm clearfix ten_col fig" id="figarticle140270imagef2" co-legend-rid="figlgndarticle140270imagef2"><a href="/books/NBK603735/figure/article-140270.image.f2/?report=objectonly" target="object" title="Figure" class="img_link icnblk_img figpopup" rid-figpopup="figarticle140270imagef2" rid-ob="figobarticle140270imagef2"><img class="small-thumb" src="/books/NBK603735/bin/retinal__cavernous__hemangioma.gif" src-large="/books/NBK603735/bin/retinal__cavernous__hemangioma.jpg" alt="Retinal Cavernous Hemangioma" /></a><div class="icnblk_cntnt" id="figlgndarticle140270imagef2"><h4 id="article-140270.image.f2"><a href="/books/NBK603735/figure/article-140270.image.f2/?report=objectonly" target="object" rid-ob="figobarticle140270imagef2">Figure</a></h4><p class="float-caption no_bottom_margin">Retinal Cavernous Hemangioma. The image shows grape-like vascular lesions. Contributed by VR Dedhia, MD, MS, FICO, FVRS </p></div></div></div><div class="floats-group" id="article-140270.s19"><div class="iconblock whole_rhythm clearfix ten_col fig" id="figarticle140270imagef3" co-legend-rid="figlgndarticle140270imagef3"><a href="/books/NBK603735/figure/article-140270.image.f3/?report=objectonly" target="object" title="Figure" class="img_link icnblk_img figpopup" rid-figpopup="figarticle140270imagef3" rid-ob="figobarticle140270imagef3"><img class="small-thumb" src="/books/NBK603735/bin/racemose__angioma.gif" src-large="/books/NBK603735/bin/racemose__angioma.jpg" alt="Retinal Racemose Angioma" /></a><div class="icnblk_cntnt" id="figlgndarticle140270imagef3"><h4 id="article-140270.image.f3"><a href="/books/NBK603735/figure/article-140270.image.f3/?report=objectonly" target="object" rid-ob="figobarticle140270imagef3">Figure</a></h4><p class="float-caption no_bottom_margin">Retinal Racemose Angioma. The image shows a large, dilated, tortuous retinal artery extending from the optic disc and directly connecting to the retinal vein without any intervening capillaries. Ravani R, Patel C, Tripathy K. Optical coherence tomography <a href="/books/NBK603735/figure/article-140270.image.f3/?report=objectonly" target="object" rid-ob="figobarticle140270imagef3">(more...)</a></p></div></div></div><div id="article-140270.s20"><h2 id="_article-140270_s20_">References</h2><dl class="temp-labeled-list"><dl class="bkr_refwrap"><dt>1.</dt><dd><div class="bk_ref" id="article-140270.r1">Gupta A, Paulbuddhe VS, Shukla UV, Tripathy K. <span class="ref-journal">StatPearls [Internet].</span> StatPearls Publishing; Treasure Island (FL): Aug 25, 2023. Exudative Retinitis (Coats Disease) [<a href="/pmc/articles/PMC560682/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC560682</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32809517" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32809517</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>2.</dt><dd><div class="bk_ref" id="article-140270.r2">Venkatesh P, Takkar B. Proposed Classification System for Retinal Capillary Angiomatosis. <span><span class="ref-journal">Ophthalmic Res. </span>2019;<span class="ref-vol">61</span>(2):115-119.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30497078" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30497078</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>3.</dt><dd><div class="bk_ref" id="article-140270.r3">Karimi S, Arabi A, Shahraki T, Safi S. Von Hippel-Lindau Disease and the Eye. <span><span class="ref-journal">J Ophthalmic Vis Res. </span>2020 Jan-Mar;<span class="ref-vol">15</span>(1):78-94.</span> [<a href="/pmc/articles/PMC7001024/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7001024</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32095212" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32095212</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>4.</dt><dd><div class="bk_ref" id="article-140270.r4">Crespigio J, Berbel LCL, Dias MA, Berbel RF, Pereira SS, Pignatelli D, Mazzuco TL. Von Hippel-Lindau disease: a single gene, several hereditary tumors. <span><span class="ref-journal">J Endocrinol Invest. </span>2018 Jan;<span class="ref-vol">41</span>(1):21-31.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/28589383" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28589383</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>5.</dt><dd><div class="bk_ref" id="article-140270.r5">Tsang SH, Sharma T. Von Hippel-Lindau Disease. <span><span class="ref-journal">Adv Exp Med Biol. </span>2018;<span class="ref-vol">1085</span>:201-203.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30578515" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30578515</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>6.</dt><dd><div class="bk_ref" id="article-140270.r6">Liu P, Li M, Guan X, Yu A, Xiao Q, Wang C, Hu Y, Zhu F, Yin H, Yi X, Liu L. Clinical Syndromes and Genetic Screening Strategies of Pheochromocytoma and Paraganglioma. <span><span class="ref-journal">J Kidney Cancer VHL. </span>2018;<span class="ref-vol">5</span>(4):14-22.</span> [<a href="/pmc/articles/PMC6308242/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6308242</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30613466" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30613466</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>7.</dt><dd><div class="bk_ref" id="article-140270.r7">Khan HA, Shahzad MA, Iqbal F, Awan MA, Khan QA, Saatci AO, Abbass A, Hussain F, Hussain SA, Ali A, Ali W. Ophthalmological Aspects of von-Hippel-Lindau Syndrome. <span><span class="ref-journal">Semin Ophthalmol. </span>2021 Oct 03;<span class="ref-vol">36</span>(7):531-540.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/33780299" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33780299</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>8.</dt><dd><div class="bk_ref" id="article-140270.r8">Chew EY. Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations. <span><span class="ref-journal">Trans Am Ophthalmol Soc. </span>2005;<span class="ref-vol">103</span>:495-511.</span> [<a href="/pmc/articles/PMC1447586/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1447586</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/17057815" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17057815</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>9.</dt><dd><div class="bk_ref" id="article-140270.r9">Niccol W, Moore RF. A CASE OF ANGIOMATOSIS RETINAE. <span><span class="ref-journal">Br J Ophthalmol. </span>1934 Aug;<span class="ref-vol">18</span>(8):454-7.</span> [<a href="/pmc/articles/PMC511708/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC511708</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/18169216" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18169216</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>10.</dt><dd><div class="bk_ref" id="article-140270.r10">Labauge P, Krivosic V, Denier C, Tournier-Lasserve E, Gaudric A. Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study. <span><span class="ref-journal">Arch Ophthalmol. </span>2006 Jun;<span class="ref-vol">124</span>(6):885-6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16769843" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16769843</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>11.</dt><dd><div class="bk_ref" id="article-140270.r11">Yamauchi K, Suzuki Y, Tanaka-Gonome T, Adachi K, Maeda N, Nakazawa M. Racemose hemangioma complicated with macular macroaneurysm rupture. <span><span class="ref-journal">Am J Ophthalmol Case Rep. </span>2021 Jun;<span class="ref-vol">22</span>:101053.</span> [<a href="/pmc/articles/PMC7994723/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7994723</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33786403" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33786403</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>12.</dt><dd><div class="bk_ref" id="article-140270.r12">Bhattacharya JJ, Luo CB, Suh DC, Alvarez H, Rodesch G, Lasjaunias P. Wyburn-Mason or Bonnet-Dechaume-Blanc as Cerebrofacial Arteriovenous Metameric Syndromes (CAMS). A New Concept and a New Classification. <span><span class="ref-journal">Interv Neuroradiol. </span>2001 Mar 30;<span class="ref-vol">7</span>(1):5-17.</span> [<a href="/pmc/articles/PMC3621461/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3621461</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20663326" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20663326</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>13.</dt><dd><div class="bk_ref" id="article-140270.r13">Knutsson KA, De Benedetto U, Querques G, Del Turco C, Bandello F, Lattanzio R. Primitive retinal vascular abnormalities: tumors and telangiectasias. <span><span class="ref-journal">Ophthalmologica. </span>2012;<span class="ref-vol">228</span>(2):67-77.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/22738997" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22738997</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>14.</dt><dd><div class="bk_ref" id="article-140270.r14">Pangtey BPS, Kohli P, Ramasamy K. Wyburn-Mason syndrome presenting with bilateral retinal racemose hemangioma with unilateral serous retinal detachment. <span><span class="ref-journal">Indian J Ophthalmol. </span>2018 Dec;<span class="ref-vol">66</span>(12):1869-1871.</span> [<a href="/pmc/articles/PMC6256888/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6256888</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30451208" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30451208</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>15.</dt><dd><div class="bk_ref" id="article-140270.r15">Richard S, Beigelman C, Gerber S, Van Effenterre R, Gaudric A, Sahel M, Binaghi M, De Kersaint-Gilly A, Houtteville JP, Brunon JP. [Does hemangioblastoma exist outside von Hippel-Lindau disease?]. <span><span class="ref-journal">Neurochirurgie. </span>1994;<span class="ref-vol">40</span>(3):145-54.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/7723921" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7723921</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>16.</dt><dd><div class="bk_ref" id="article-140270.r16">Ruppert MD, Gavin M, Mitchell KT, Peiris AN. Ocular Manifestations of von Hippel-Lindau Disease. <span><span class="ref-journal">Cureus. </span>2019 Aug 04;<span class="ref-vol">11</span>(8):e5319.</span> [<a href="/pmc/articles/PMC6776162/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6776162</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31588386" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31588386</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>17.</dt><dd><div class="bk_ref" id="article-140270.r17">Wang Y, Abu-Asab MS, Shen D, Zhuang Z, Chew EY, Chan CC. Upregulation of hypoxia-inducible factors and autophagy in von Hippel-Lindau-associated retinal hemangioblastoma. <span><span class="ref-journal">Graefes Arch Clin Exp Ophthalmol. </span>2014 Aug;<span class="ref-vol">252</span>(8):1319-27.</span> [<a href="/pmc/articles/PMC8329596/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8329596</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24859386" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24859386</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>18.</dt><dd><div class="bk_ref" id="article-140270.r18">Dobyns WB, Michels VV, Groover RV, Mokri B, Trautmann JC, Forbes GS, Laws ER. Familial cavernous malformations of the central nervous system and retina. <span><span class="ref-journal">Ann Neurol. </span>1987 Jun;<span class="ref-vol">21</span>(6):578-83.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/3606045" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 3606045</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>19.</dt><dd><div class="bk_ref" id="article-140270.r19">Labauge P, Enjolras O, Bonerandi JJ, Laberge S, Dandurand M, Joujoux JM, Tournier-Lasserve E. An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families. <span><span class="ref-journal">Ann Neurol. </span>1999 Feb;<span class="ref-vol">45</span>(2):250-4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9989629" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9989629</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>20.</dt><dd><div class="bk_ref" id="article-140270.r20">Reddy S, Gorin MB, McCannel TA, Tsui I, Straatsma BR. Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation. <span><span class="ref-journal">Graefes Arch Clin Exp Ophthalmol. </span>2010 Sep;<span class="ref-vol">248</span>(9):1359-61.</span> [<a href="/pmc/articles/PMC2910301/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2910301</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20306072" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20306072</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>21.</dt><dd><div class="bk_ref" id="article-140270.r21">Peyre M, Miyagishima D, Bielle F, Chapon F, Sierant M, Venot Q, Lerond J, Marijon P, Abi-Jaoude S, Le Van T, Labreche K, Houlston R, Faisant M, Clémenceau S, Boch AL, Nouet A, Carpentier A, Boetto J, Louvi A, Kalamarides M. Somatic <em>PIK3CA</em> Mutations in Sporadic Cerebral Cavernous Malformations. <span><span class="ref-journal">N Engl J Med. </span>2021 Sep 09;<span class="ref-vol">385</span>(11):996-1004.</span> [<a href="/pmc/articles/PMC8606022/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8606022</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34496175" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34496175</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>22.</dt><dd><div class="bk_ref" id="article-140270.r22">Dayani PN, Sadun AA. A case report of Wyburn-Mason syndrome and review of the literature. <span><span class="ref-journal">Neuroradiology. </span>2007 May;<span class="ref-vol">49</span>(5):445-56.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17235577" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17235577</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>23.</dt><dd><div class="bk_ref" id="article-140270.r23">Jesberg DO, Spencer WH, Hoyt WF. Incipient lesions of von Hippel-Lindau disease. <span><span class="ref-journal">Arch Ophthalmol. </span>1968 Nov;<span class="ref-vol">80</span>(5):632-40.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/5693353" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 5693353</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>24.</dt><dd><div class="bk_ref" id="article-140270.r24">Binderup MLM, Stendell AS, Galanakis M, Møller HU, Kiilgaard JF, Bisgaard ML. Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease. <span><span class="ref-journal">Br J Ophthalmol. </span>2018 Jul;<span class="ref-vol">102</span>(7):942-947.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/28972023" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28972023</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>25.</dt><dd><div class="bk_ref" id="article-140270.r25">Azimi F, Aghajani A, Khakpour G, Chaibakhsh S. A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma? <span><span class="ref-journal">Mol Genet Genomics. </span>2022 Nov;<span class="ref-vol">297</span>(6):1615-1626.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/36006455" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36006455</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>26.</dt><dd><div class="bk_ref" id="article-140270.r26">Singh A, Shields J, Shields C. Solitary retinal capillary hemangioma: hereditary (von Hippel-Lindau disease) or nonhereditary? <span><span class="ref-journal">Arch Ophthalmol. </span>2001 Feb;<span class="ref-vol">119</span>(2):232-4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11176984" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11176984</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>27.</dt><dd><div class="bk_ref" id="article-140270.r27">Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, Ferguson-Smith MA. Clinical features and natural history of von Hippel-Lindau disease. <span><span class="ref-journal">Q J Med. </span>1990 Nov;<span class="ref-vol">77</span>(283):1151-63.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/2274658" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 2274658</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>28.</dt><dd><div class="bk_ref" id="article-140270.r28">Ning XH, Zhang N, Li T, Wu PJ, Wang X, Li XY, Peng SH, Wang JY, Chen JC, Gong K. Telomere shortening is associated with genetic anticipation in Chinese Von Hippel-Lindau disease families. <span><span class="ref-journal">Cancer Res. </span>2014 Jul 15;<span class="ref-vol">74</span>(14):3802-9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24986515" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24986515</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>29.</dt><dd><div class="bk_ref" id="article-140270.r29">Lonser RR, Butman JA, Huntoon K, Asthagiri AR, Wu T, Bakhtian KD, Chew EY, Zhuang Z, Linehan WM, Oldfield EH. Prospective natural history study of central nervous system hemangioblastomas in von Hippel-Lindau disease. <span><span class="ref-journal">J Neurosurg. </span>2014 May;<span class="ref-vol">120</span>(5):1055-62.</span> [<a href="/pmc/articles/PMC4762041/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4762041</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24579662" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24579662</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>30.</dt><dd><div class="bk_ref" id="article-140270.r30">Wang W, Chen L. CAVERNOUS HEMANGIOMA OF THE RETINA: A Comprehensive Review of the Literature (1934-2015). <span><span class="ref-journal">Retina. </span>2017 Apr;<span class="ref-vol">37</span>(4):611-621.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/27820777" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27820777</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>31.</dt><dd><div class="bk_ref" id="article-140270.r31">Goldberg RE, Pheasant TR, Shields JA. Cavernous hemangioma of the retina. A four-generation pedigree with neurocutaneous manifestations and an example of bilateral retinal involvement. <span><span class="ref-journal">Arch Ophthalmol. </span>1979 Dec;<span class="ref-vol">97</span>(12):2321-4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/229814" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 229814</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>32.</dt><dd><div class="bk_ref" id="article-140270.r32">Singh AD, Rundle PA, Rennie I. Retinal vascular tumors. <span><span class="ref-journal">Ophthalmol Clin North Am. </span>2005 Mar;<span class="ref-vol">18</span>(1):167-76, x.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/15763202" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15763202</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>33.</dt><dd><div class="bk_ref" id="article-140270.r33">Archer DB, Deutman A, Ernest JT, Krill AE. Arteriovenous communications of the retina. <span><span class="ref-journal">Am J Ophthalmol. </span>1973 Feb;<span class="ref-vol">75</span>(2):224-41.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/4697179" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 4697179</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>34.</dt><dd><div class="bk_ref" id="article-140270.r34">So JM, Mishra C, Holman RE. <span class="ref-journal">StatPearls [Internet].</span> StatPearls Publishing; Treasure Island (FL): Jun 26, 2023. Wyburn-Mason Syndrome. [<a href="https://pubmed.ncbi.nlm.nih.gov/29630270" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29630270</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>35.</dt><dd><div class="bk_ref" id="article-140270.r35">Maxwell PH, Wiesener MS, Chang GW, Clifford SC, Vaux EC, Cockman ME, Wykoff CC, Pugh CW, Maher ER, Ratcliffe PJ. The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. <span><span class="ref-journal">Nature. </span>1999 May 20;<span class="ref-vol">399</span>(6733):271-5.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/10353251" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10353251</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>36.</dt><dd><div class="bk_ref" id="article-140270.r36">Singer EA, Bratslavsky G, Middelton L, Srinivasan R, Linehan WM. Impact of genetics on the diagnosis and treatment of renal cancer. <span><span class="ref-journal">Curr Urol Rep. </span>2011 Feb;<span class="ref-vol">12</span>(1):47-55.</span> [<a href="/pmc/articles/PMC3164770/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3164770</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/21128028" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21128028</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>37.</dt><dd><div class="bk_ref" id="article-140270.r37">Dollfus H, Massin P, Taupin P, Nemeth C, Amara S, Giraud S, Béroud C, Dureau P, Gaudric A, Landais P, Richard S. Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. <span><span class="ref-journal">Invest Ophthalmol Vis Sci. </span>2002 Sep;<span class="ref-vol">43</span>(9):3067-74.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/12202531" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12202531</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>38.</dt><dd><div class="bk_ref" id="article-140270.r38">Calzada MJ. Von Hippel-Lindau syndrome: molecular mechanisms of the disease. <span><span class="ref-journal">Clin Transl Oncol. </span>2010 Mar;<span class="ref-vol">12</span>(3):160-5.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20231120" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20231120</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>39.</dt><dd><div class="bk_ref" id="article-140270.r39">Gass JD. Cavernous hemangioma of the retina. A neuro-oculo-cutaneous syndrome. <span><span class="ref-journal">Am J Ophthalmol. </span>1971 Apr;<span class="ref-vol">71</span>(4):799-814.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/5553009" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 5553009</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>40.</dt><dd><div class="bk_ref" id="article-140270.r40">Messmer E, Font RL, Laqua H, Höpping W, Naumann GO. Cavernous hemangioma of the retina. Immunohistochemical and ultrastructural observations. <span><span class="ref-journal">Arch Ophthalmol. </span>1984 Mar;<span class="ref-vol">102</span>(3):413-8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/6538410" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 6538410</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>41.</dt><dd><div class="bk_ref" id="article-140270.r41">Risau W. Mechanisms of angiogenesis. <span><span class="ref-journal">Nature. </span>1997 Apr 17;<span class="ref-vol">386</span>(6626):671-4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9109485" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9109485</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>42.</dt><dd><div class="bk_ref" id="article-140270.r42">Ponce FA, Han PP, Spetzler RF, Canady A, Feiz-Erfan I. Associated arteriovenous malformation of the orbit and brain: a case of Wyburn-Mason syndrome without retinal involvement. Case report. <span><span class="ref-journal">J Neurosurg. </span>2001 Aug;<span class="ref-vol">95</span>(2):346-9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11780909" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11780909</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>43.</dt><dd><div class="bk_ref" id="article-140270.r43">Schatz H, Chang LF, Ober RR, McDonald HR, Johnson RN. Central retinal vein occlusion associated with retinal arteriovenous malformation. <span><span class="ref-journal">Ophthalmology. </span>1993 Jan;<span class="ref-vol">100</span>(1):24-30.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/8433820" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8433820</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>44.</dt><dd><div class="bk_ref" id="article-140270.r44">Onder HI, Alisan S, Tunc M. Serous retinal detachment and cystoid macular edema in a patient with Wyburn-Mason syndrome. <span><span class="ref-journal">Semin Ophthalmol. </span>2015 Mar;<span class="ref-vol">30</span>(2):154-6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24171831" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24171831</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>45.</dt><dd><div class="bk_ref" id="article-140270.r45">Chan CC, Lee YS, Zhuang Z, Hackett J, Chew EY. Von Hippel-Lindau gene deletion and expression of hypoxia-inducible factor and ubiquitin in optic nerve hemangioma. <span><span class="ref-journal">Trans Am Ophthalmol Soc. </span>2004;<span class="ref-vol">102</span>:75-9; discussion 79-81.</span> [<a href="/pmc/articles/PMC1280089/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1280089</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/15747747" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15747747</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>46.</dt><dd><div class="bk_ref" id="article-140270.r46">Grossniklaus HE, Thomas JW, Vigneswaran N, Jarrett WH. Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. <span><span class="ref-journal">Ophthalmology. </span>1992 Jan;<span class="ref-vol">99</span>(1):140-5.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/1741127" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 1741127</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>47.</dt><dd><div class="bk_ref" id="article-140270.r47">Vortmeyer AO, Chan CC, Chew EY, Matteson DM, Shen DF, Wellmann A, Weil R, Zhuang Z. Morphologic and genetic analysis of retinal angioma associated with massive gliosis in a patient with von Hippel-Lindau disease. <span><span class="ref-journal">Graefes Arch Clin Exp Ophthalmol. </span>1999 Jun;<span class="ref-vol">237</span>(6):513-7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/10379614" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10379614</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>48.</dt><dd><div class="bk_ref" id="article-140270.r48">Chan CC, Chew EY, Shen D, Hackett J, Zhuang Z. Expression of stem cells markers in ocular hemangioblastoma associated with von Hippel-Lindau (VHL) disease. <span><span class="ref-journal">Mol Vis. </span>2005 Sep 01;<span class="ref-vol">11</span>:697-704.</span> [<a href="/pmc/articles/PMC1876780/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1876780</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/16163267" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16163267</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>49.</dt><dd><div class="bk_ref" id="article-140270.r49">Pierro L, Guarisco L, Zaganelli E, Freschi M, Brancato R. Capillary and cavernous hemangioma of the optic disc. Echographic and histological findings. <span><span class="ref-journal">Acta Ophthalmol Suppl (1985). </span>1992;(204):102-6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/1332383" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 1332383</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>50.</dt><dd><div class="bk_ref" id="article-140270.r50">Jagannathan J, Lonser RR, Smith R, DeVroom HL, Oldfield EH. Surgical management of cerebellar hemangioblastomas in patients with von Hippel-Lindau disease. <span><span class="ref-journal">J Neurosurg. </span>2008 Feb;<span class="ref-vol">108</span>(2):210-22.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/18240914" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18240914</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>51.</dt><dd><div class="bk_ref" id="article-140270.r51">Findeis-Hosey JJ, McMahon KQ, Findeis SK. Von Hippel-Lindau Disease. <span><span class="ref-journal">J Pediatr Genet. </span>2016 Jun;<span class="ref-vol">5</span>(2):116-23.</span> [<a href="/pmc/articles/PMC4918695/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4918695</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/27617152" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27617152</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>52.</dt><dd><div class="bk_ref" id="article-140270.r52">Aronow ME, Wiley HE, Gaudric A, Krivosic V, Gorin MB, Shields CL, Shields JA, Jonasch EW, Singh AD, Chew EY. VON HIPPEL-LINDAU DISEASE: Update on Pathogenesis and Systemic Aspects. <span><span class="ref-journal">Retina. </span>2019 Dec;<span class="ref-vol">39</span>(12):2243-2253.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/31095066" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31095066</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>53.</dt><dd><div class="bk_ref" id="article-140270.r53">van Leeuwaarde RS, Ahmad S, van Nesselrooij B, Zandee W, Giles RH. Von Hippel-Lindau Syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. <span class="ref-journal">GeneReviews<sup>®</sup> [Internet].</span> University of Washington, Seattle; Seattle (WA): May 17, 2000. [<a href="/pmc/articles/PMC1463/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1463</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20301636" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20301636</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>54.</dt><dd><div class="bk_ref" id="article-140270.r54">De Laey JJ, Hanssens M, Brabant P, Decq L, De Gersem R, Hoste A, Huyghe P, Lenaerts V, Leys M, Pollet L. Vascular tumors and malformations of the ocular fundus. <span><span class="ref-journal">Bull Soc Belge Ophtalmol. </span>1990;<span class="ref-vol">225 Pt 1</span>:1-241.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/2128617" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 2128617</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>55.</dt><dd><div class="bk_ref" id="article-140270.r55">Mansour AM, Wells CG, Jampol LM, Kalina RE. Ocular complications of arteriovenous communications of the retina. <span><span class="ref-journal">Arch Ophthalmol. </span>1989 Feb;<span class="ref-vol">107</span>(2):232-6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/2644928" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 2644928</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>56.</dt><dd><div class="bk_ref" id="article-140270.r56">Tripathy K, Sharma YR. Retinal vascular lesions. <span><span class="ref-journal">J Paediatr Child Health. </span>2017 Jan;<span class="ref-vol">53</span>(1):89.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/28070944" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28070944</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>57.</dt><dd><div class="bk_ref" id="article-140270.r57">Webster AR, Maher ER, Moore AT. Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. <span><span class="ref-journal">Arch Ophthalmol. </span>1999 Mar;<span class="ref-vol">117</span>(3):371-8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/10088816" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10088816</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>58.</dt><dd><div class="bk_ref" id="article-140270.r58">Gass JD, Braunstein R. Sessile and exophytic capillary angiomas of the juxtapapillary retina and optic nerve head. <span><span class="ref-journal">Arch Ophthalmol. </span>1980 Oct;<span class="ref-vol">98</span>(10):1790-7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/7425905" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7425905</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>59.</dt><dd><div class="bk_ref" id="article-140270.r59">Augsburger JJ, Shields JA, Goldberg RE. Classification and management of hereditary retinal angiomas. <span><span class="ref-journal">Int Ophthalmol. </span>1981 Aug;<span class="ref-vol">4</span>(1-2):93-106.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/7298262" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7298262</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>60.</dt><dd><div class="bk_ref" id="article-140270.r60">Custo Greig EP, Duker JS. Retinal hemangioblastoma vascular detail elucidated on swept source optical coherence tomography angiography. <span><span class="ref-journal">Am J Ophthalmol Case Rep. </span>2021 Mar;<span class="ref-vol">21</span>:101005.</span> [<a href="/pmc/articles/PMC7771098/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7771098</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33385098" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33385098</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>61.</dt><dd><div class="bk_ref" id="article-140270.r61">Ruia S, Tripathy K. <span class="ref-journal">StatPearls [Internet].</span> StatPearls Publishing; Treasure Island (FL): Aug 25, 2023. Fluorescein Angiography. [<a href="https://pubmed.ncbi.nlm.nih.gov/35015403" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35015403</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>62.</dt><dd><div class="bk_ref" id="article-140270.r62">Sagar P, Rajesh R, Shanmugam M, Konana VK, Mishra D. Comparison of optical coherence tomography angiography and fundus fluorescein angiography features of retinal capillary hemangioblastoma. <span><span class="ref-journal">Indian J Ophthalmol. </span>2018 Jun;<span class="ref-vol">66</span>(6):872-876.</span> [<a href="/pmc/articles/PMC5989523/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5989523</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29786009" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29786009</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>63.</dt><dd><div class="bk_ref" id="article-140270.r63">Heimann H, Jmor F, Damato B. Imaging of retinal and choroidal vascular tumours. <span><span class="ref-journal">Eye (Lond). </span>2013 Feb;<span class="ref-vol">27</span>(2):208-16.</span> [<a href="/pmc/articles/PMC3574251/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3574251</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23196648" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23196648</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>64.</dt><dd><div class="bk_ref" id="article-140270.r64">Sagar P, Shanmugam PM, Konana VK, Ramanjulu R, Mishra KCD, Simakurthy S. Optical coherence tomography angiography in assessment of response to therapy in retinal capillary hemangioblastoma and diffuse choroidal hemangioma. <span><span class="ref-journal">Indian J Ophthalmol. </span>2019 May;<span class="ref-vol">67</span>(5):701-703.</span> [<a href="/pmc/articles/PMC6498907/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6498907</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31007251" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31007251</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>65.</dt><dd><div class="bk_ref" id="article-140270.r65">de Paula A, Abdolrahimzadeh S, Fragiotta S, Di Pippo M, Scuderi G. Current concepts on ocular vascular abnormalities in the phakomatoses. <span><span class="ref-journal">Semin Ophthalmol. </span>2021 Oct 03;<span class="ref-vol">36</span>(7):549-560.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/33755531" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33755531</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>66.</dt><dd><div class="bk_ref" id="article-140270.r66">Wanebo JE, Lonser RR, Glenn GM, Oldfield EH. The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease. <span><span class="ref-journal">J Neurosurg. </span>2003 Jan;<span class="ref-vol">98</span>(1):82-94.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/12546356" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12546356</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>67.</dt><dd><div class="bk_ref" id="article-140270.r67">Schmid S, Gillessen S, Binet I, Brändle M, Engeler D, Greiner J, Hader C, Heinimann K, Kloos P, Krek W, Krull I, Stoeckli SJ, Sulz MC, van Leyen K, Weber J, Rothermundt C, Hundsberger T. Management of von hippel-lindau disease: an interdisciplinary review. <span><span class="ref-journal">Oncol Res Treat. </span>2014;<span class="ref-vol">37</span>(12):761-71.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/25531723" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25531723</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>68.</dt><dd><div class="bk_ref" id="article-140270.r68">Gläsker S, Vergauwen E, Koch CA, Kutikov A, Vortmeyer AO. Von Hippel-Lindau Disease: Current Challenges and Future Prospects. <span><span class="ref-journal">Onco Targets Ther. </span>2020;<span class="ref-vol">13</span>:5669-5690.</span> [<a href="/pmc/articles/PMC7305855/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7305855</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32606780" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32606780</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>69.</dt><dd><div class="bk_ref" id="article-140270.r69">Shanbhogue KP, Hoch M, Fatterpaker G, Chandarana H. von Hippel-Lindau Disease: Review of Genetics and Imaging. <span><span class="ref-journal">Radiol Clin North Am. </span>2016 May;<span class="ref-vol">54</span>(3):409-22.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/27153780" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27153780</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>70.</dt><dd><div class="bk_ref" id="article-140270.r70">Choyke PL, Glenn GM, Walther MM, Patronas NJ, Linehan WM, Zbar B. von Hippel-Lindau disease: genetic, clinical, and imaging features. <span><span class="ref-journal">Radiology. </span>1995 Mar;<span class="ref-vol">194</span>(3):629-42.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/7862955" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7862955</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>71.</dt><dd><div class="bk_ref" id="article-140270.r71">Binderup ML, Bisgaard ML, Harbud V, Møller HU, Gimsing S, Friis-Hansen L, Hansen Tv, Bagi P, Knigge U, Kosteljanetz M, Bøgeskov L, Thomsen C, Gerdes AM, Ousager LB, Sunde L., Danish vHL Coordination Group. Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition. <span><span class="ref-journal">Dan Med J. </span>2013 Dec;<span class="ref-vol">60</span>(12):B4763.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24355456" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24355456</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>72.</dt><dd><div class="bk_ref" id="article-140270.r72">Shields JA, Eagle RC, Ewing MQ, Lally SE, Shields CL. Retinal cavernous hemangioma: fifty-two years of clinical follow-up with clinicopathologic correlation. <span><span class="ref-journal">Retina. </span>2014 Jun;<span class="ref-vol">34</span>(6):1253-7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24849703" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24849703</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>73.</dt><dd><div class="bk_ref" id="article-140270.r73">Li J, Li Y, Li H. New Interpretation of Multimodality Fundus Imaging for Retinal Cavernous Hemangioma. <span><span class="ref-journal">Curr Eye Res. </span>2019 Apr;<span class="ref-vol">44</span>(4):423-427.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30433829" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30433829</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>74.</dt><dd><div class="bk_ref" id="article-140270.r74">Heimann H, Damato B. Congenital vascular malformations of the retina and choroid. <span><span class="ref-journal">Eye (Lond). </span>2010 Mar;<span class="ref-vol">24</span>(3):459-67.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20019761" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20019761</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>75.</dt><dd><div class="bk_ref" id="article-140270.r75">Shanmugam PM, Ramanjulu R. Vascular tumors of the choroid and retina. <span><span class="ref-journal">Indian J Ophthalmol. </span>2015 Feb;<span class="ref-vol">63</span>(2):133-40.</span> [<a href="/pmc/articles/PMC4399122/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4399122</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25827544" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25827544</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>76.</dt><dd><div class="bk_ref" id="article-140270.r76">Say EA, Shah SU, Ferenczy S, Shields CL. Optical coherence tomography of retinal and choroidal tumors. <span><span class="ref-journal">J Ophthalmol. </span>2012;<span class="ref-vol">2012</span>:385058.</span> [<a href="/pmc/articles/PMC3139893/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3139893</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23008756" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23008756</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>77.</dt><dd><div class="bk_ref" id="article-140270.r77">Labauge P, Denier C, Bergametti F, Tournier-Lasserve E. Genetics of cavernous angiomas. <span><span class="ref-journal">Lancet Neurol. </span>2007 Mar;<span class="ref-vol">6</span>(3):237-44.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17303530" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17303530</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>78.</dt><dd><div class="bk_ref" id="article-140270.r78">Ravani R, Patel C, Tripathy K. Optical coherence tomography of racemose angioma. <span><span class="ref-journal">Clin Case Rep. </span>2020 Jul;<span class="ref-vol">8</span>(7):1299-1300.</span> [<a href="/pmc/articles/PMC7364105/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7364105</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32695379" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32695379</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>79.</dt><dd><div class="bk_ref" id="article-140270.r79">Mansour AM, Walsh JB, Henkind P. Arteriovenous anastomoses of the retina. <span><span class="ref-journal">Ophthalmology. </span>1987 Jan;<span class="ref-vol">94</span>(1):35-40.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/3561955" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 3561955</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>80.</dt><dd><div class="bk_ref" id="article-140270.r80">Liu W, Sharma S. Ophthaproblem. Retinal arteriovenous malformations (type 2). <span><span class="ref-journal">Can Fam Physician. </span>2005 Feb;<span class="ref-vol">51</span>(2):203, 209.</span> [<a href="/pmc/articles/PMC1472977/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC1472977</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/15751561" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15751561</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>81.</dt><dd><div class="bk_ref" id="article-140270.r81">Schmidt D, Agostini H, Schumacher M. Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome). <span><span class="ref-journal">Eur J Med Res. </span>2010 Feb 26;<span class="ref-vol">15</span>(2):89-91.</span> [<a href="/pmc/articles/PMC3352052/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3352052</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20452891" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20452891</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>82.</dt><dd><div class="bk_ref" id="article-140270.r82">Shanmugam PM, Simakurthy S, Konana VK, Ramanjulu R, Mishra KCD. Optical coherence tomography angiography of fleeting macroaneurysm in retinal racemose angioma. <span><span class="ref-journal">Indian J Ophthalmol. </span>2018 Sep;<span class="ref-vol">66</span>(9):1352-1354.</span> [<a href="/pmc/articles/PMC6113800/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6113800</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30127170" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30127170</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>83.</dt><dd><div class="bk_ref" id="article-140270.r83">Hajjaj A, van Overdam KA, Gishti O, Ramdas WD, Kiliç E. Efficacy and safety of current treatment options for peripheral retinal haemangioblastomas: a systematic review. <span><span class="ref-journal">Acta Ophthalmol. </span>2022 Feb;<span class="ref-vol">100</span>(1):e38-e46.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/33834636" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33834636</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>84.</dt><dd><div class="bk_ref" id="article-140270.r84">Bornfeld N, Kreusel KM. [Capillary hemangioma of the retina in cases of von Hippel-Lindau syndrome. New therapeutic directions]. <span><span class="ref-journal">Ophthalmologe. </span>2007 Feb;<span class="ref-vol">104</span>(2):114-8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/17256181" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17256181</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>85.</dt><dd><div class="bk_ref" id="article-140270.r85">Watzke RC. Cryotherapy for retinal angiomatosis. A clinicopathologic report. <span><span class="ref-journal">Arch Ophthalmol. </span>1974 Nov;<span class="ref-vol">92</span>(5):399-401.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/4429468" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 4429468</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>86.</dt><dd><div class="bk_ref" id="article-140270.r86">Palmer JD, Gragoudas ES. Advances in treatment of retinal angiomas. <span><span class="ref-journal">Int Ophthalmol Clin. </span>1997 Fall;<span class="ref-vol">37</span>(4):159-70.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9429939" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9429939</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>87.</dt><dd><div class="bk_ref" id="article-140270.r87">Raval VR, Agarwal A, Tyagi M. Surgical and visual outcomes after vitreoretinal surgery for complex retinal capillary hemangioblastoma. <span><span class="ref-journal">Indian J Ophthalmol. </span>2023 Nov;<span class="ref-vol">71</span>(11):3544-3551.</span> [<a href="/pmc/articles/PMC10752312/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC10752312</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/37870022" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 37870022</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>88.</dt><dd><div class="bk_ref" id="article-140270.r88">Wiley HE, Krivosic V, Gaudric A, Gorin MB, Shields C, Shields J, Aronow ME, Chew EY. MANAGEMENT OF RETINAL HEMANGIOBLASTOMA IN VON HIPPEL-LINDAU DISEASE. <span><span class="ref-journal">Retina. </span>2019 Dec;<span class="ref-vol">39</span>(12):2254-2263.</span> [<a href="/pmc/articles/PMC6878154/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6878154</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31259811" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31259811</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>89.</dt><dd><div class="bk_ref" id="article-140270.r89">Sachdeva R, Dadgostar H, Kaiser PK, Sears JE, Singh AD. Verteporfin photodynamic therapy of six eyes with retinal capillary haemangioma. <span><span class="ref-journal">Acta Ophthalmol. </span>2010 Dec;<span class="ref-vol">88</span>(8):e334-40.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20946329" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20946329</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>90.</dt><dd><div class="bk_ref" id="article-140270.r90">Papastefanou VP, Pilli S, Stinghe A, Lotery AJ, Cohen VM. Photodynamic therapy for retinal capillary hemangioma. <span><span class="ref-journal">Eye (Lond). </span>2013 Mar;<span class="ref-vol">27</span>(3):438-42.</span> [<a href="/pmc/articles/PMC3597867/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3597867</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23288135" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23288135</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>91.</dt><dd><div class="bk_ref" id="article-140270.r91">Mennel S, Meyer CH, Callizo J. Combined intravitreal anti-vascular endothelial growth factor (Avastin) and photodynamic therapy to treat retinal juxtapapillary capillary haemangioma. <span><span class="ref-journal">Acta Ophthalmol. </span>2010 Aug;<span class="ref-vol">88</span>(5):610-3.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/19222401" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19222401</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>92.</dt><dd><div class="bk_ref" id="article-140270.r92">Fallah J, Brave MH, Weinstock C, Mehta GU, Bradford D, Gittleman H, Bloomquist EW, Charlab R, Hamed SS, Miller CP, Dorff SE, Chambers WA, Mixter BD, Dinin J, Pierce WF, Ricks TK, Tang S, Donoghue M, Pazdur R, Amiri-Kordestani L, Ibrahim A, Beaver JA. FDA Approval Summary: Belzutifan for von Hippel-Lindau Disease-Associated Tumors. <span><span class="ref-journal">Clin Cancer Res. </span>2022 Nov 14;<span class="ref-vol">28</span>(22):4843-4848.</span> [<a href="/pmc/articles/PMC9669093/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9669093</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35727604" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35727604</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>93.</dt><dd><div class="bk_ref" id="article-140270.r93">Jonasch E, McCutcheon IE, Waguespack SG, Wen S, Davis DW, Smith LA, Tannir NM, Gombos DS, Fuller GN, Matin SF. Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease. <span><span class="ref-journal">Ann Oncol. </span>2011 Dec;<span class="ref-vol">22</span>(12):2661-2666.</span> [<a href="/pmc/articles/PMC4542805/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4542805</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/22105611" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22105611</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>94.</dt><dd><div class="bk_ref" id="article-140270.r94">Oudard S, Elaidi R, Brizard M, Le Rest C, Caillet V, Deveaux S, Benoit G, Corréas JM, Benoudiba F, David P, Gaudric A, Hammel P, Joly D, Timsit MO, Méjean A, Richard S. Sunitinib for the treatment of benign and malignant neoplasms from von Hippel-Lindau disease: A single-arm, prospective phase II clinical study from the PREDIR group. <span><span class="ref-journal">Oncotarget. </span>2016 Dec 20;<span class="ref-vol">7</span>(51):85306-85317.</span> [<a href="/pmc/articles/PMC5356738/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5356738</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/27852035" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27852035</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>95.</dt><dd><div class="bk_ref" id="article-140270.r95">Pilié P, Hasanov E, Matin SF, Woodson AHH, Marcott VD, Bird S, Slack RS, Fuller GN, McCutcheon IE, Jonasch E. Pilot study of dovitinib in patients with von Hippel-Lindau disease. <span><span class="ref-journal">Oncotarget. </span>2018 May 04;<span class="ref-vol">9</span>(34):23390-23395.</span> [<a href="/pmc/articles/PMC5955100/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5955100</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29805741" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29805741</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>96.</dt><dd><div class="bk_ref" id="article-140270.r96">Jonasch E, McCutcheon IE, Gombos DS, Ahrar K, Perrier ND, Liu D, Robichaux CC, Villarreal MF, Weldon JA, Woodson AH, Pilie PG, Fuller GN, Waguespack SG, Matin SF. Pazopanib in patients with von Hippel-Lindau disease: a single-arm, single-centre, phase 2 trial. <span><span class="ref-journal">Lancet Oncol. </span>2018 Oct;<span class="ref-vol">19</span>(10):1351-1359.</span> [<a href="/pmc/articles/PMC6338228/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6338228</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30236511" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30236511</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>97.</dt><dd><div class="bk_ref" id="article-140270.r97">Haller JA, Knox DL. Vitrectomy for persistent vitreous hemorrhage from a cavernous hemangioma of the optic disk. <span><span class="ref-journal">Am J Ophthalmol. </span>1993 Jul 15;<span class="ref-vol">116</span>(1):106-7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/8328530" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8328530</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>98.</dt><dd><div class="bk_ref" id="article-140270.r98">Japiassú RM, Moura Brasil OF, de Souza EC. Regression of Macular Cavernous Hemangioma with Systemic Infliximab. <span><span class="ref-journal">Ophthalmic Surg Lasers Imaging. </span>2010 Mar 09;:1-3.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20337337" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20337337</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>99.</dt><dd><div class="bk_ref" id="article-140270.r99">Shanmugam MP, Ramanjulu R, Dwivedi S, Barigali A, Havanje A. Therapeutic surprise! Photodynamic therapy for cavernous haemangioma of the disc. <span><span class="ref-journal">Indian J Ophthalmol. </span>2017 Aug;<span class="ref-vol">65</span>(8):754-757.</span> [<a href="/pmc/articles/PMC5598193/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5598193</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28820168" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28820168</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>100.</dt><dd><div class="bk_ref" id="article-140270.r100">Rao P, Thomas BJ, Yonekawa Y, Robinson J, Capone A. Peripheral Retinal Ischemia, Neovascularization, and Choroidal Infarction in Wyburn-Mason Syndrome. <span><span class="ref-journal">JAMA Ophthalmol. </span>2015 Jul;<span class="ref-vol">133</span>(7):852-4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/25906291" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25906291</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>101.</dt><dd><div class="bk_ref" id="article-140270.r101">Turell ME, Singh AD. Vascular tumors of the retina and choroid: diagnosis and treatment. <span><span class="ref-journal">Middle East Afr J Ophthalmol. </span>2010 Jul;<span class="ref-vol">17</span>(3):191-200.</span> [<a href="/pmc/articles/PMC2934709/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2934709</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20844673" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20844673</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>102.</dt><dd><div class="bk_ref" id="article-140270.r102">Shields CL, Shields JA, Barrett J, De Potter P. Vasoproliferative tumors of the ocular fundus. Classification and clinical manifestations in 103 patients. <span><span class="ref-journal">Arch Ophthalmol. </span>1995 May;<span class="ref-vol">113</span>(5):615-23.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/7748132" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 7748132</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>103.</dt><dd><div class="bk_ref" id="article-140270.r103">Rundle P, Shields JA, Shields CL, Singh AD, Peairs R. Vasoproliferative tumour of the ocular fundus associated with Waardenburg's syndrome. <span><span class="ref-journal">Eye (Lond). </span>2000 Feb;<span class="ref-vol">14 ( Pt 1)</span>:105-6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/10755116" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10755116</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>104.</dt><dd><div class="bk_ref" id="article-140270.r104">Huang YM, Chen SJ. Clinical characters and treatments of retinal vasoproliferative tumors. <span><span class="ref-journal">Taiwan J Ophthalmol. </span>2016 Apr-Jun;<span class="ref-vol">6</span>(2):85-88.</span> [<a href="/pmc/articles/PMC5602695/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5602695</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29018717" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29018717</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>105.</dt><dd><div class="bk_ref" id="article-140270.r105">Honavar SG. Retinal vasoproliferative tumor - A proposal for classification. <span><span class="ref-journal">Indian J Ophthalmol. </span>2018 Feb;<span class="ref-vol">66</span>(2):185-186.</span> [<a href="/pmc/articles/PMC5819090/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5819090</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29380753" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29380753</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>106.</dt><dd><div class="bk_ref" id="article-140270.r106">Shienbaum G, Tasman WS. Coats disease: a lifetime disease. <span><span class="ref-journal">Retina. </span>2006 Apr;<span class="ref-vol">26</span>(4):422-4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16603961" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16603961</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>107.</dt><dd><div class="bk_ref" id="article-140270.r107">Temkar S, Natarajan K, Deb AK, Sagar P. Exudative vascular anomalous complex-like lesion of the peripapillary area. <span><span class="ref-journal">Eur J Ophthalmol. </span>2024 Mar;<span class="ref-vol">34</span>(2):NP83-NP86.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/37715627" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 37715627</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>108.</dt><dd><div class="bk_ref" id="article-140270.r108">Querques G, Kuhn D, Massamba N, Leveziel N, Querques L, Souied EH. Perifoveal exudative vascular anomalous complex. <span><span class="ref-journal">J Fr Ophtalmol. </span>2011 Oct;<span class="ref-vol">34</span>(8):559.e1-4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/21550688" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21550688</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>109.</dt><dd><div class="bk_ref" id="article-140270.r109">Singh D, Tripathy K. <span class="ref-journal">StatPearls [Internet].</span> StatPearls Publishing; Treasure Island (FL): Aug 25, 2023. Retinal Macroaneurysm. [<a href="https://pubmed.ncbi.nlm.nih.gov/35015432" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35015432</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>110.</dt><dd><div class="bk_ref" id="article-140270.r110">Tripathy K, Bypareddy R, Chawla R. Congenital retinal macrovessel may be associated with unilateral foveal hypoplasia/small foveal avascular zone. <span><span class="ref-journal">Can J Ophthalmol. </span>2019 Feb;<span class="ref-vol">54</span>(1):139.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/30851769" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30851769</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>111.</dt><dd><div class="bk_ref" id="article-140270.r111">Chawla R, Bypareddy R, Tripathy K, Daggumili SS, Tomar AS. Optical Coherence Tomography Angiography Imaging of Congenital Retinal Macrovessel. <span><span class="ref-journal">Ophthalmic Surg Lasers Imaging Retina. </span>2016 Oct 01;<span class="ref-vol">47</span>(10):972-973.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/27759867" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27759867</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>112.</dt><dd><div class="bk_ref" id="article-140270.r112">Schmidt D, Natt E, Neumann HP. Long-term results of laser treatment for retinal angiomatosis in von Hippel-Lindau disease. <span><span class="ref-journal">Eur J Med Res. </span>2000 Feb 28;<span class="ref-vol">5</span>(2):47-58.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/10720563" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10720563</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>113.</dt><dd><div class="bk_ref" id="article-140270.r113">Reich M, Jaegle S, Neumann-Haefelin E, Klingler JH, Evers C, Daniel M, Bucher F, Ludwig F, Nuessle S, Kopp J, Boehringer D, Reinhard T, Lagrèze WA, Lange C, Agostini H, Lang SJ. Genotype-phenotype correlation in von Hippel-Lindau disease. <span><span class="ref-journal">Acta Ophthalmol. </span>2021 Dec;<span class="ref-vol">99</span>(8):e1492-e1500.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/33720516" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33720516</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>114.</dt><dd><div class="bk_ref" id="article-140270.r114">Hudler P, Urbancic M. The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis. <span><span class="ref-journal">Genes (Basel). </span>2022 Feb 17;<span class="ref-vol">13</span>(2)</span> [<a href="/pmc/articles/PMC8871608/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8871608</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35205407" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35205407</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>115.</dt><dd><div class="bk_ref" id="article-140270.r115">Effron L, Zakov ZN, Tomsak RL. Neovascular glaucoma as a complication of the Wyburn-Mason syndrome. <span><span class="ref-journal">J Clin Neuroophthalmol. </span>1985 Jun;<span class="ref-vol">5</span>(2):95-8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/2432092" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 2432092</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>116.</dt><dd><div class="bk_ref" id="article-140270.r116">Reck SD, Zacks DN, Eibschitz-Tsimhoni M. Retinal and intracranial arteriovenous malformations: Wyburn-Mason syndrome. <span><span class="ref-journal">J Neuroophthalmol. </span>2005 Sep;<span class="ref-vol">25</span>(3):205-8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16148629" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16148629</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>117.</dt><dd><div class="bk_ref" id="article-140270.r117">Hopen G, Smith JL, Hoff JT, Quencer R. The Wyburn-Mason syndrome. Concomitant chiasmal and fundus vascular malformations. <span><span class="ref-journal">J Clin Neuroophthalmol. </span>1983 Mar;<span class="ref-vol">3</span>(1):53-62.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/6222080" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 6222080</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>118.</dt><dd><div class="bk_ref" id="article-140270.r118">Singh AD, Nouri M, Shields CL, Shields JA, Perez N. Treatment of retinal capillary hemangioma. <span><span class="ref-journal">Ophthalmology. </span>2002 Oct;<span class="ref-vol">109</span>(10):1799-806.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/12359597" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12359597</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>119.</dt><dd><div class="bk_ref" id="article-140270.r119">Lee SH, Park KH, Woo SJ, Park SJ, Joo K. Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients. <span><span class="ref-journal">Korean J Ophthalmol. </span>2022 Dec;<span class="ref-vol">36</span>(6):543-549.</span> [<a href="/pmc/articles/PMC9745345/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9745345</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/36281577" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36281577</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>120.</dt><dd><div class="bk_ref" id="article-140270.r120">Gold AS, Nguyen JT, Murray TG. Macular hole secondary to capillary hemangioblastoma. <span><span class="ref-journal">Optom Vis Sci. </span>2010 Sep;<span class="ref-vol">87</span>(9):E705-9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20601911" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20601911</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>121.</dt><dd><div class="bk_ref" id="article-140270.r121">Shah GK, Shields JA, Lanning RC. Branch retinal vein obstruction secondary to retinal arteriovenous communication. <span><span class="ref-journal">Am J Ophthalmol. </span>1998 Sep;<span class="ref-vol">126</span>(3):446-8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9744380" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9744380</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>122.</dt><dd><div class="bk_ref" id="article-140270.r122">Hoyt WF, Cameron RB. Racemose angioma of the mandible, face, retina, and brain: report of case. <span><span class="ref-journal">J Oral Surg. </span>1968 Sep;<span class="ref-vol">26</span>(9):596-601.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/5302209" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 5302209</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>123.</dt><dd><div class="bk_ref" id="article-140270.r123">Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU, Kiilgaard JF, Friis-Hansen L, Harbud V, Cortnum S, Owen H, Gimsing S, Friis Juhl HA, Munthe S, Geilswijk M, Rasmussen ÅK, Møldrup U, Graumann O, Donskov F, Grønbæk H, Stausbøl-Grøn B, Schaffalitzky de Muckadell O, Knigge U, Dam G, Wadt KA, Bøgeskov L, Bagi P, Lund L, Stochholm K, Ousager LB, Sunde L. von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance. <span><span class="ref-journal">Eur J Med Genet. </span>2022 Aug;<span class="ref-vol">65</span>(8):104538.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/35709961" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35709961</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>124.</dt><dd><div class="bk_ref" id="article-140270.r124">Poulsen ML, Gimsing S, Kosteljanetz M, Møller HU, Brandt CA, Thomsen C, Bisgaard ML. von Hippel-Lindau disease: surveillance strategy for endolymphatic sac tumors. <span><span class="ref-journal">Genet Med. </span>2011 Dec;<span class="ref-vol">13</span>(12):1032-41.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/21912262" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21912262</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>125.</dt><dd><div class="bk_ref" id="article-140270.r125">Daniels AB, Chang EY, Chew EY, Gombos DS, Gorin MB, Shields CL, Wiley HE. Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease. <span><span class="ref-journal">Ophthalmology. </span>2024 May;<span class="ref-vol">131</span>(5):622-633.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/38092079" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 38092079</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>126.</dt><dd><div class="bk_ref" id="article-140270.r126">Bokhari MR, Al-Dhahir MA. <span class="ref-journal">StatPearls [Internet].</span> StatPearls Publishing; Treasure Island (FL): Aug 28, 2023. Brain Cavernous Angiomas. [<a href="https://pubmed.ncbi.nlm.nih.gov/28613621" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28613621</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>127.</dt><dd><div class="bk_ref" id="article-140270.r127">Mikhail MI, Singh AK. <span class="ref-journal">StatPearls [Internet].</span> StatPearls Publishing; Treasure Island (FL): Jan 30, 2023. Von Hippel-Lindau Syndrome. [<a href="https://pubmed.ncbi.nlm.nih.gov/29083737" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29083737</span></a>]</div></dd></dl><dl class="bkr_refwrap"><dt>128.</dt><dd><div class="bk_ref" id="article-140270.r128">Larcher A, Belladelli F, Fallara G, Rowe I, Capitanio U, Marandino L, Raggi D, Capitanio JF, Bailo M, Lattanzio R, Barresi C, Calloni SF, Barbera M, Andreasi V, Guazzarotti G, Pipitone G, Carrera P, Necchi A, Mortini P, Bandello F, Falini A, Partelli S, Falconi M, De Cobelli F, Salonia A. Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians. <span><span class="ref-journal">Asian J Urol. </span>2022 Oct;<span class="ref-vol">9</span>(4):430-442.</span> [<a href="/pmc/articles/PMC9643295/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9643295</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/36381595" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36381595</span></a>]</div></dd></dl></dl></div><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_top_margin">
|
|
<b>Disclosure: </b>Tharini Senthamizh declares no relevant financial relationships with ineligible companies.</p></div></dd></dl><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_top_margin">
|
|
<b>Disclosure: </b>Koushik Tripathy declares no relevant financial relationships with ineligible companies.</p></div></dd></dl></dl></div></div></div><div class="fm-sec"><h2 id="_NBK603735_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><p class="contrib-group"><h4>Authors</h4><span itemprop="author">Tharini Senthamizh</span><sup>1</sup>; <span itemprop="author">Koushik Tripathy</span><sup>2</sup>.</p><h4>Affiliations</h4><div class="affiliation"><sup>1</sup> Sri Lakshmi Narayana Institute of Medical Sciences,Pondicherry</div><div class="affiliation"><sup>2</sup> ASG Eye Hospital, BT Road, Kolkata, India</div><h3>Publication History</h3><p class="small">Last Update: <span itemprop="dateModified">May 2, 2024</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 2025, StatPearls Publishing LLC.<p class="small">
|
|
This book is distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)
|
|
(<a href="https://creativecommons.org/licenses/by-nc-nd/4.0/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">
|
|
http://creativecommons.org/licenses/by-nc-nd/4.0/
|
|
</a>), which permits others to distribute the work, provided that the article is not altered or used commercially. You are not required to obtain permission to distribute this article, provided that you credit the author and journal.
|
|
</p></div></div><h3>Publisher</h3><p><a href="https://www.statpearls.com/" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">StatPearls Publishing</a>, Treasure Island (FL)</p><h3>NLM Citation</h3><p>Senthamizh T, Tripathy K. Retinal Vascular Anomalies (VHL, Cavernous Hemangioma, Wyburn-Mason) [Updated 2024 May 2]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. <span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"></div><div class="small-screen-next"></div></article><article data-type="fig" id="figobarticle140270imagef1"><div id="article-140270.image.f1" class="figure bk_fig"><div class="graphic"><a href="/core/lw/2.0/html/tileshop_pmc/tileshop_pmc_inline.html?title=Retinal%20Capillary%20Hemangioma&p=BOOKS&id=603735_rch.jpg" target="tileshopwindow" class="inline_block pmc_inline_block ts_canvas img_link" title="Click on image to zoom"><div class="ts_bar small" title="Click on image to zoom"></div><img data-src="/books/NBK603735/bin/rch.jpg" alt="Retinal Capillary Hemangioma" class="tileshop" title="Click on image to zoom" /></a></div><div class="caption"><p>Retinal Capillary Hemangioma. The image displays dilated vessels connected to the red hemangioblastoma, alongside scars from previous laser treatment and a newly observed lesion in the lower portion. Contributed by K Tripathy, MD</p></div></div></article><article data-type="fig" id="figobarticle140270imagef2"><div id="article-140270.image.f2" class="figure bk_fig"><div class="graphic"><img data-src="/books/NBK603735/bin/retinal__cavernous__hemangioma.jpg" alt="Retinal Cavernous Hemangioma" /></div><div class="caption"><p>Retinal Cavernous Hemangioma. The image shows grape-like vascular lesions. Contributed by VR Dedhia, MD, MS, FICO, FVRS</p></div></div></article><article data-type="fig" id="figobarticle140270imagef3"><div id="article-140270.image.f3" class="figure bk_fig"><div class="graphic"><img data-src="/books/NBK603735/bin/racemose__angioma.jpg" alt="Retinal Racemose Angioma" /></div><div class="caption"><p>Retinal Racemose Angioma. The image shows a large, dilated, tortuous retinal artery extending from the optic disc and directly connecting to the retinal vein without any intervening capillaries. Ravani R, Patel C, Tripathy K. Optical coherence tomography of racemose angioma. <i>Clin Case Rep.</i> 2020;8(7):1299-1300. doi: 10.1002/ccr3.2841.</p></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script></div></div>
|
|
|
|
|
|
|
|
|
|
<!-- Book content -->
|
|
|
|
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js"> </script>
|
|
|
|
|
|
<!-- CE8B5AF87C7FFCB1_0191SID /projects/books/PBooks@9.11 portal107 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
|
|
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
|
|
|
|
<script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/js/3968615.js" snapshot="books"></script></body>
|
|
</html>
|