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<meta name="keywords" content="C1844579, disease or syndrome, evr2, evrx, exudative vitreoretinopathy 2, x-linked, exudative vitreoretinopathy 2, x-linked, x-linked recessive, x-linked dominant, exudative vitreoretinopathy caused by mutation in ndp, exudative vitreoretinopathy, familial, 2, exudative vitreoretinopathy, familial, x-linked recessive, familial exudative vitreoretinopathy, x-linked, fevr, x-linked, fevrx, ndp, ndp exudative vitreoretinopathy, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). For a discussion of genetic heterogeneity of FEVR, see EVR1 (133780)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=337030
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||
ConceptID=C1844579
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Exudative vitreoretinopathy 2, X-linked<span class="h1sub">(EVR2; FEVRX)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337030</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1844579</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>EXUDATIVE VITREORETINOPATHY, FAMILIAL, 2; Familial exudative vitreoretinopathy, X-linked; FEVR, X-LINKED</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="NDP - ID: 4693 - NCBI Gene" href="/gene/4693" class="medgenPMinfo">NDP</a> (Xp11.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010588" target="_blank">MONDO:0010588</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/305390" target="_blank">305390</a></td></tr>
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||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). For a discussion of genetic heterogeneity of FEVR, see EVR1 (133780). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Familial exudative vitreoretinopathy is a hereditary disorder that can cause vision loss that worsens over time. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. In people with this disorder, blood vessels do not fully develop at the outer edges (periphery) of the retina, which reduces the blood supply to this tissue. This prolonged reduction in blood supply (chronic ischemia) causes continued damage to the retina and can lead to worsening of the condition. <br /><br />The signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected individuals, the retinal abnormalities never cause any vision problems. Other people with this condition develop abnormal vessels that leak. This causes chronic inflammation which, over time, can lead to fluid under the retina (exudate). A reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). The resulting retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil.<br /><br />Some people with familial exudative vitreoretinopathy also have a condition known as osteoporosis-pseudoglioma syndrome, which is characterized by reduced bone density. People with this condition have weakened bones and an increased risk of fractures. <a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-exudative-vitreoretinopathy">https://medlineplus.gov/genetics/condition/familial-exudative-vitreoretinopathy</a></div></div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_10033"><div><strong>Microphthalmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10033</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10033">Feature record</a> | <a href="/medgen?term=%22Microphthalmia%22%5BClinical%20Features%5D%20OR%2010033%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19759"><div><strong>Retinal detachment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19759</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0035305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19759">Feature record</a> | <a href="/medgen?term=%22Retinal%20detachment%22%5BClinical%20Features%5D%20OR%2019759%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20550"><div><strong>Retinal neovascularization</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20550</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0035320</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20550">Feature record</a> | <a href="/medgen?term=%22Retinal%20neovascularization%22%5BClinical%20Features%5D%20OR%2020550%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115826"><div><strong>Retinal fold</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115826</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0229197</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115826">Feature record</a> | <a href="/medgen?term=%22Retinal%20fold%22%5BClinical%20Features%5D%20OR%20115826%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65889"><div><strong>Reduced visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65889</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished clarity of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65889">Feature record</a> | <a href="/medgen?term=%22Reduced%20visual%20acuity%22%5BClinical%20Features%5D%20OR%2065889%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78759"><div><strong>High myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78759</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0271183</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of myopia with greater than -6.00 diopters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78759">Feature record</a> | <a href="/medgen?term=%22High%20myopia%22%5BClinical%20Features%5D%20OR%2078759%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488857"><div><strong>Falciform retinal fold</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488857</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0344550</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488857">Feature record</a> | <a href="/medgen?term=%22Falciform%20retinal%20fold%22%5BClinical%20Features%5D%20OR%20488857%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_473112"><div><strong>Deeply set eye</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473112</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An eye that is more deeply recessed into the plane of the face than is typical.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473112">Feature record</a> | <a href="/medgen?term=%22Deeply%20set%20eye%22%5BClinical%20Features%5D%20OR%20473112%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_602215"><div><strong>Shallow anterior chamber</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>602215</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/602215">Feature record</a> | <a href="/medgen?term=%22Shallow%20anterior%20chamber%22%5BClinical%20Features%5D%20OR%20602215%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488893"><div><strong>Subretinal exudate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488893</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488893">Feature record</a> | <a href="/medgen?term=%22Subretinal%20exudate%22%5BClinical%20Features%5D%20OR%20488893%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338687"><div><strong>Peripheral retinal avascularization</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338687</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1851406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338687">Feature record</a> | <a href="/medgen?term=%22Peripheral%20retinal%20avascularization%22%5BClinical%20Features%5D%20OR%20338687%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_349827"><div><strong>Retinal vascular tortuosity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349827</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1860475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an increased number of twists and turns of the retinal blood vessels.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349827">Feature record</a> | <a href="/medgen?term=%22Retinal%20vascular%20tortuosity%22%5BClinical%20Features%5D%20OR%20349827%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870315"><div><strong>Intraretinal exudate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870315</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4024758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinal exudate within the retinal tissue itself.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870315">Feature record</a> | <a href="/medgen?term=%22Intraretinal%20exudate%22%5BClinical%20Features%5D%20OR%20870315%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870367"><div><strong>Peripheral vitreous opacities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870367</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4024811</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870367">Feature record</a> | <a href="/medgen?term=%22Peripheral%20vitreous%20opacities%22%5BClinical%20Features%5D%20OR%20870367%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892913"><div><strong>Exudative vitreoretinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892913</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4072980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892913">Feature record</a> | <a href="/medgen?term=%22Exudative%20vitreoretinopathy%22%5BClinical%20Features%5D%20OR%20892913%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1642357"><div><strong>Retinal hole</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642357</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A small break in the retina.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642357">Feature record</a> | <a href="/medgen?term=%22Retinal%20hole%22%5BClinical%20Features%5D%20OR%201642357%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deeply set eye</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892913" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exudative vitreoretinopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488857" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Falciform retinal fold</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High myopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870315" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intraretinal exudate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338687" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral retinal avascularization</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870367" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral vitreous opacities</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced visual acuity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal detachment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal fold</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal hole</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal neovascularization</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_349827" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal vascular tortuosity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_602215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shallow anterior chamber</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subretinal exudate</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33588793">Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jia LY,
|
||
Ma K</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2021 Feb 15;21(1):84.
|
||
doi: 10.1186/s12886-021-01852-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33588793" target="_blank">33588793</a><a href="/pmc/articles/PMC7885586" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30640974">Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun W,
|
||
Xiao X,
|
||
Li S,
|
||
Jia X,
|
||
Wang P,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2019 Jan 2;60(1):93-97.
|
||
doi: 10.1167/iovs.18-25142.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30640974" target="_blank">30640974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30474316">Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Zhu J,
|
||
Yang J,
|
||
Zhang X,
|
||
Zhang Q,
|
||
Zhao P</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2019 Jan;7(1):e00503.
|
||
Epub 2018 Nov 25
|
||
doi: 10.1002/mgg3.503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30474316" target="_blank">30474316</a><a href="/pmc/articles/PMC6382493" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27221737">Immediate Sequential Bilateral Pediatric Vitreoretinal Surgery: An International Multicenter Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yonekawa Y,
|
||
Wu WC,
|
||
Kusaka S,
|
||
Robinson J,
|
||
Tsujioka D,
|
||
Kang KB,
|
||
Shapiro MJ,
|
||
Padhi TR,
|
||
Jain L,
|
||
Sears JE,
|
||
Kuriyan AE,
|
||
Berrocal AM,
|
||
Quiram PA,
|
||
Gerber AE,
|
||
Paul Chan RV,
|
||
Jonas KE,
|
||
Wong SC,
|
||
Patel CK,
|
||
Abbey AM,
|
||
Spencer R,
|
||
Blair MP,
|
||
Chang EY,
|
||
Papakostas TD,
|
||
Vavvas DG,
|
||
Sisk RA,
|
||
Ferrone PJ,
|
||
Henderson RH,
|
||
Olsen KR,
|
||
Hartnett ME,
|
||
Chau FY,
|
||
Mukai S,
|
||
Murray TG,
|
||
Thomas BJ,
|
||
Meza PA,
|
||
Drenser KA,
|
||
Trese MT,
|
||
Capone A Jr</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2016 Aug;123(8):1802-1808.
|
||
Epub 2016 May 22
|
||
doi: 10.1016/j.ophtha.2016.04.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27221737" target="_blank">27221737</a><a href="/pmc/articles/PMC5522749" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25323851">Familial exudative vitreoretinopathy and related retinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilmour DF</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2015 Jan;29(1):1-14.
|
||
Epub 2014 Oct 17
|
||
doi: 10.1038/eye.2014.70.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25323851" target="_blank">25323851</a><a href="/pmc/articles/PMC4289842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exudative%20vitreoretinopathy%202%2C%20X-linked%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35834361">Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoyek S,
|
||
Wang M,
|
||
Berrocal AM,
|
||
Wong A,
|
||
Place EM,
|
||
Mason-Suares H,
|
||
Lin AE,
|
||
Mukai S,
|
||
Patel NA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Apr;44(2):198-203.
|
||
Epub 2022 Jul 14
|
||
doi: 10.1080/13816810.2022.2098987.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35834361" target="_blank">35834361</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35361573">NDP-related retinopathies: clinical phenotype of female carriers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang L,
|
||
Sun L,
|
||
Li X,
|
||
Li S,
|
||
Zhang T,
|
||
Zhang Z,
|
||
Ding X</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2023 Aug;107(8):1151-1155.
|
||
Epub 2022 Mar 31
|
||
doi: 10.1136/bjophthalmol-2021-320084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35361573" target="_blank">35361573</a><a href="/pmc/articles/PMC10359507" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35037517">Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peng Y,
|
||
Zhao R,
|
||
Dai E,
|
||
Peng L,
|
||
He Y,
|
||
Li S,
|
||
Yang M</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2022 Nov;32(6):3220-3226.
|
||
Epub 2022 Jan 17
|
||
doi: 10.1177/11206721221074209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35037517" target="_blank">35037517</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30474316">Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Zhu J,
|
||
Yang J,
|
||
Zhang X,
|
||
Zhang Q,
|
||
Zhao P</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2019 Jan;7(1):e00503.
|
||
Epub 2018 Nov 25
|
||
doi: 10.1002/mgg3.503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30474316" target="_blank">30474316</a><a href="/pmc/articles/PMC6382493" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27221737">Immediate Sequential Bilateral Pediatric Vitreoretinal Surgery: An International Multicenter Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yonekawa Y,
|
||
Wu WC,
|
||
Kusaka S,
|
||
Robinson J,
|
||
Tsujioka D,
|
||
Kang KB,
|
||
Shapiro MJ,
|
||
Padhi TR,
|
||
Jain L,
|
||
Sears JE,
|
||
Kuriyan AE,
|
||
Berrocal AM,
|
||
Quiram PA,
|
||
Gerber AE,
|
||
Paul Chan RV,
|
||
Jonas KE,
|
||
Wong SC,
|
||
Patel CK,
|
||
Abbey AM,
|
||
Spencer R,
|
||
Blair MP,
|
||
Chang EY,
|
||
Papakostas TD,
|
||
Vavvas DG,
|
||
Sisk RA,
|
||
Ferrone PJ,
|
||
Henderson RH,
|
||
Olsen KR,
|
||
Hartnett ME,
|
||
Chau FY,
|
||
Mukai S,
|
||
Murray TG,
|
||
Thomas BJ,
|
||
Meza PA,
|
||
Drenser KA,
|
||
Trese MT,
|
||
Capone A Jr</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2016 Aug;123(8):1802-1808.
|
||
Epub 2016 May 22
|
||
doi: 10.1016/j.ophtha.2016.04.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27221737" target="_blank">27221737</a><a href="/pmc/articles/PMC5522749" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exudative%20vitreoretinopathy%202%2C%20X-linked%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35834361">Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoyek S,
|
||
Wang M,
|
||
Berrocal AM,
|
||
Wong A,
|
||
Place EM,
|
||
Mason-Suares H,
|
||
Lin AE,
|
||
Mukai S,
|
||
Patel NA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Apr;44(2):198-203.
|
||
Epub 2022 Jul 14
|
||
doi: 10.1080/13816810.2022.2098987.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35834361" target="_blank">35834361</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30768221">A Novel Pathogenic Variant in NDP Gene With Incomplete Penetrance Manifests as X-Linked Familial Exudative Vitreoretinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scott NL,
|
||
Tran KD,
|
||
Russell JF,
|
||
Hinkle JW,
|
||
Cernichiaro-Espinosa LA,
|
||
Lauer A,
|
||
Berrocal AM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
|
||
2019 Feb 1;50(2):120-124.
|
||
doi: 10.3928/23258160-20190129-10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30768221" target="_blank">30768221</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30640974">Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun W,
|
||
Xiao X,
|
||
Li S,
|
||
Jia X,
|
||
Wang P,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2019 Jan 2;60(1):93-97.
|
||
doi: 10.1167/iovs.18-25142.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30640974" target="_blank">30640974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30474316">Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Zhu J,
|
||
Yang J,
|
||
Zhang X,
|
||
Zhang Q,
|
||
Zhao P</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2019 Jan;7(1):e00503.
|
||
Epub 2018 Nov 25
|
||
doi: 10.1002/mgg3.503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30474316" target="_blank">30474316</a><a href="/pmc/articles/PMC6382493" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9547772">Outcomes of vitreoretinal surgery in patients with X-linked retinoschisis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenfeld PJ,
|
||
Flynn HW Jr,
|
||
McDonald HR,
|
||
Rubsamen PE,
|
||
Smiddy WE,
|
||
Sipperley JO,
|
||
Boniuk I,
|
||
Packer AJ</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers</span>
|
||
1998 Mar;29(3):190-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9547772" target="_blank">9547772</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exudative%20vitreoretinopathy%202%2C%20X-linked%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30474316">Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Zhu J,
|
||
Yang J,
|
||
Zhang X,
|
||
Zhang Q,
|
||
Zhao P</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2019 Jan;7(1):e00503.
|
||
Epub 2018 Nov 25
|
||
doi: 10.1002/mgg3.503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30474316" target="_blank">30474316</a><a href="/pmc/articles/PMC6382493" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8252044">A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen ZY,
|
||
Battinelli EM,
|
||
Fielder A,
|
||
Bundey S,
|
||
Sims K,
|
||
Breakefield XO,
|
||
Craig IW</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
1993 Oct;5(2):180-3.
|
||
doi: 10.1038/ng1093-180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8252044" target="_blank">8252044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1642288">X-linked recessive familial exudative vitreoretinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Plager DA,
|
||
Orgel IK,
|
||
Ellis FD,
|
||
Hartzer M,
|
||
Trese MT,
|
||
Shastry BS</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1992 Aug 15;114(2):145-8.
|
||
doi: 10.1016/s0002-9394(14)73977-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1642288" target="_blank">1642288</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exudative%20vitreoretinopathy%202%2C%20X-linked%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1844579%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (38)</a></li>
|
||
<li><a href="/gtr/tests?term=C1844579%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1844579%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (49)</a></li>
|
||
<li><a href="/gtr/tests?term=C1844579%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (15)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1844579%5bDISCUI%5d" target="_blank">See all (54)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=305390" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Exudative%20vitreoretinopathy%202,%20X-linked" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=300658" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4693[geneid]" target="_blank">View NDP variations in ClinVar</a></li><li><a href="/nuccore/223972707" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=305390" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/X-linked+familial+exudative+vitreoretinopathy/9487" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/exudative_vitreoretinopathy_2_x_linked" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Exudative%20vitreoretinopathy%202,%20X-linked" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/familial-exudative-vitreoretinopathy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15292/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Exudative%20vitreoretinopathy%202,%20X-linked" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Exudative%20vitreoretinopathy%202,%20X-linked%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=337030" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=337030" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1844579[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1844579[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=337030" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=337030" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=337030" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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