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<!--
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||
UID=354977
|
||
ConceptID=C1863411
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinal hamartoma</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354977</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.">C1863411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Retinal Hamartoma; Simple and Combined Hamartomas of the Retinal Pigment Epithelium</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0009594">HP:0009594</a></td></tr>
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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>
|
||
<div class="portlet_content ln">A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Retinal hamartoma</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/10294" ref="tree=MeSH" title="MedGen record for Neoplasm">Neoplasm</a></span><ul><li><span class="TLline"><a href="/medgen/6713" ref="tree=MeSH" title="MedGen record for Hamartoma">Hamartoma</a></span><ul><li><span class="matched_ds">Retinal hamartoma</span><ul><li><span class="TLline"><a href="/medgen/396281" ref="tree=MeSH" title="MedGen record for Combined hamartoma of the retinal pigment epithelium and retina">Combined hamartoma of the retinal pigment epithelium and retina</a></span></li><li><span class="TLline"><a href="/medgen/137924" ref="tree=MeSH" title="MedGen record for Retinal astrocytic hamartoma">Retinal astrocytic hamartoma</a></span></li><li><span class="TLline"><a href="/medgen/892596" ref="tree=MeSH" title="MedGen record for Retinal racemose hemangioma">Retinal racemose hemangioma</a></span></li><li><span class="TLline"><a href="/medgen/1723618" ref="tree=MeSH" title="MedGen record for Simple Hamartoma of the Retinal Pigment Epithelium">Simple Hamartoma of the Retinal Pigment Epithelium</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_18014"><div><strong>Neurofibromatosis, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18014</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.">C0027832</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NF2-related schwannomatosis (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and (very rarely) low-grade astrocytomas. Because NF2 is considered an adult-onset disease, it may be underrecognized in children, in whom skin tumors and ocular findings (retinal hamartoma, thickened optic nerves, cortical wedge cataracts, third cranial nerve palsy) may be the first manifestations. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy or hand/foot drop.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18014">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344288"><div><strong>Tuberous sclerosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344288</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.">C1854465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348170"><div><strong>Tuberous sclerosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348170</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.">C1860707</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348170">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18014" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis, type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tuberous sclerosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tuberous sclerosis 2</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/19175396">Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gumbinger C,
|
||
Rohsbach CB,
|
||
Schulze-Bonhage A,
|
||
Korinthenberg R,
|
||
Zentner J,
|
||
Häffner M,
|
||
Fauser S</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2009 Jun;50(6):1396-408.
|
||
Epub 2009 Jan 21
|
||
doi: 10.1111/j.1528-1167.2008.01979.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19175396" target="_blank">19175396</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17305725">Current treatment modalities for exudative retinal hamartomas secondary to tuberous sclerosis: review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mennel S,
|
||
Meyer CH,
|
||
Peter S,
|
||
Schmidt JC,
|
||
Kroll P</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol Scand</span>
|
||
2007 Mar;85(2):127-32.
|
||
doi: 10.1111/j.1600-0420.2006.00781.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17305725" target="_blank">17305725</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22retinal%20hamartoma%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></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/39110368">Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shin HJ,
|
||
Lee S,
|
||
Kim SH,
|
||
Lee JS,
|
||
Oh JY,
|
||
Ko A,
|
||
Kang HC</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2024 Oct;25(4):471-479.
|
||
Epub 2024 Aug 7
|
||
doi: 10.1007/s10048-024-00777-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39110368" target="_blank">39110368</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36030358">Association of multiple retinal nodular hamartomas and "confetti" skin lesions with end-stage renal disease in patients with tuberous sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prelevic V,
|
||
Juric I,
|
||
Bevc S,
|
||
Marcun-Varda N,
|
||
Aleckovic-Halilovic M,
|
||
Mesic E,
|
||
Bilic H,
|
||
Grujicic M,
|
||
Zabic I,
|
||
Josipovic J,
|
||
Vujicic B,
|
||
Marinaki S,
|
||
Simic-Ogrizovic S,
|
||
Milinkovic M,
|
||
Azasevac T,
|
||
Idrizi A,
|
||
Arnol M,
|
||
Radunovic D,
|
||
Antunovic T,
|
||
Jukic NB</span><br />
|
||
<span class="medgenPMjournal">Int Urol Nephrol</span>
|
||
2023 Feb;55(2):477-482.
|
||
Epub 2022 Aug 28
|
||
doi: 10.1007/s11255-022-03352-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36030358" target="_blank">36030358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34673638">Structural Abnormalities of the Central Retina in Neurofibromatosis Type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emmanouil B,
|
||
Wasik M,
|
||
Charbel Issa P,
|
||
Halliday D,
|
||
Parry A,
|
||
Sharma SM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Res</span>
|
||
2022;65(1):77-85.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1159/000519143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34673638" target="_blank">34673638</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17392863">Combined pigment epithelial and retinal hamartoma: long-term follow-up of three cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avitabile T,
|
||
Franco L,
|
||
Reibaldi M,
|
||
Pulvirenti MA</span><br />
|
||
<span class="medgenPMjournal">Can J Ophthalmol</span>
|
||
2007 Apr;42(2):318-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17392863" target="_blank">17392863</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8719681">Retinal changes associated with neurofibromatosis 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyers SM,
|
||
Gutman FA,
|
||
Kaye LD,
|
||
Rothner AD</span><br />
|
||
<span class="medgenPMjournal">Trans Am Ophthalmol Soc</span>
|
||
1995;93:245-52; discussion 252-7.
|
||
doi: 10.1016/s0002-9394(14)70558-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8719681" target="_blank">8719681</a><a href="/pmc/articles/PMC1312060" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20hamartoma%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38321238">Pediatric orbital lesions: ocular pathologies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gerrie SK,
|
||
Rajani H,
|
||
Branson HM,
|
||
Lyons CJ,
|
||
Marie E,
|
||
Frayn CS,
|
||
Hughes ECM,
|
||
Navarro OM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2024 May;54(6):876-896.
|
||
Epub 2024 Feb 7
|
||
doi: 10.1007/s00247-024-05869-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38321238" target="_blank">38321238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35791221">Utility of multimodal ocular imaging in tuberous sclerosis complex-Review of literature along with a case illustration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Venkatesh R,
|
||
Reddy NG,
|
||
Jayadev C,
|
||
Bhatt A,
|
||
Agrawal R,
|
||
Yadav NK</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2022 Jul;70(7):2720-2724.
|
||
doi: 10.4103/ijo.IJO_2920_21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35791221" target="_blank">35791221</a><a href="/pmc/articles/PMC9426122" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34673638">Structural Abnormalities of the Central Retina in Neurofibromatosis Type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emmanouil B,
|
||
Wasik M,
|
||
Charbel Issa P,
|
||
Halliday D,
|
||
Parry A,
|
||
Sharma SM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Res</span>
|
||
2022;65(1):77-85.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1159/000519143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34673638" target="_blank">34673638</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4003506">Retinal hamartoma, acquired retinoschisis, and retinal hole.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schachat AP,
|
||
Glaser BM</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1985 May 15;99(5):604-5.
|
||
doi: 10.1016/s0002-9394(14)77975-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4003506" target="_blank">4003506</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24877361">Retinal hamartoma in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dark AJ,
|
||
Richardson J,
|
||
Howe JW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
1978 Sep-Oct;15(5):273-7.
|
||
doi: 10.3928/0191-3913-19780901-03.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24877361" target="_blank">24877361</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20hamartoma%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 (27)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30777981">Primary ocular presentation of tuberous sclerosis - A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rajasekaran NM,
|
||
Horo S,
|
||
Kuriakose T</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2019 Mar;67(3):433-435.
|
||
doi: 10.4103/ijo.IJO_925_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30777981" target="_blank">30777981</a><a href="/pmc/articles/PMC6407376" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18778334">Intravitreal anti-vascular endothelial growth factor therapy with bevacizumab for tuberous sclerosis with macular oedema.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saito W,
|
||
Kase S,
|
||
Ohgami K,
|
||
Mori S,
|
||
Ohno S</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2010 May;88(3):377-80.
|
||
Epub 2010 Sep 5
|
||
doi: 10.1111/j.1755-3768.2008.01331.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18778334" target="_blank">18778334</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17579286">Ocular photodynamic therapy--standard applications and new indications (part 1). Review of the literature and personal experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mennel S,
|
||
Barbazetto I,
|
||
Meyer CH,
|
||
Peter S,
|
||
Stur M</span><br />
|
||
<span class="medgenPMjournal">Ophthalmologica</span>
|
||
2007;221(4):216-26.
|
||
doi: 10.1159/000101922.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17579286" target="_blank">17579286</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20hamartoma%22%20AND%20Therapy%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><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34673638">Structural Abnormalities of the Central Retina in Neurofibromatosis Type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emmanouil B,
|
||
Wasik M,
|
||
Charbel Issa P,
|
||
Halliday D,
|
||
Parry A,
|
||
Sharma SM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Res</span>
|
||
2022;65(1):77-85.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1159/000519143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34673638" target="_blank">34673638</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19629903">Infantile onset neurofibromatosis type 2 presenting with peripheral facial palsy, skin patches, retinal hamartoma and foot drop.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tibussek D,
|
||
Hübsch S,
|
||
Berger K,
|
||
Schaper J,
|
||
Rosenbaum T,
|
||
Mayatepek E</span><br />
|
||
<span class="medgenPMjournal">Klin Padiatr</span>
|
||
2009 Jul-Aug;221(4):247-50.
|
||
Epub 2009 Jul 23
|
||
doi: 10.1055/s-0028-1112155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19629903" target="_blank">19629903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17392863">Combined pigment epithelial and retinal hamartoma: long-term follow-up of three cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avitabile T,
|
||
Franco L,
|
||
Reibaldi M,
|
||
Pulvirenti MA</span><br />
|
||
<span class="medgenPMjournal">Can J Ophthalmol</span>
|
||
2007 Apr;42(2):318-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17392863" target="_blank">17392863</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9430064">Tuberous sclerosis in infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mullaney PB,
|
||
Jacquemin C,
|
||
Abboud E,
|
||
Karcioglu ZA</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
1997 Nov-Dec;34(6):372-5.
|
||
doi: 10.3928/0191-3913-19971101-09.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9430064" target="_blank">9430064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7872393">Long-term observation of retinal lesions in tuberous sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zimmer-Galler IE,
|
||
Robertson DM</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1995 Mar;119(3):318-24.
|
||
doi: 10.1016/s0002-9394(14)71174-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7872393" target="_blank">7872393</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20hamartoma%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39110368">Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shin HJ,
|
||
Lee S,
|
||
Kim SH,
|
||
Lee JS,
|
||
Oh JY,
|
||
Ko A,
|
||
Kang HC</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2024 Oct;25(4):471-479.
|
||
Epub 2024 Aug 7
|
||
doi: 10.1007/s10048-024-00777-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39110368" target="_blank">39110368</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37903307">TWO CASES OF CRB1-RELATED RETINAL DYSTROPHY ASSOCIATED WITH RETINAL MASSES.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bello NR,
|
||
Pisuchpen P,
|
||
de Guimarães TAC,
|
||
Capasso JE,
|
||
Levin AV</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2023 Nov 1;17(6):714-718.
|
||
doi: 10.1097/ICB.0000000000001269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37903307" target="_blank">37903307</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34673638">Structural Abnormalities of the Central Retina in Neurofibromatosis Type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Emmanouil B,
|
||
Wasik M,
|
||
Charbel Issa P,
|
||
Halliday D,
|
||
Parry A,
|
||
Sharma SM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Res</span>
|
||
2022;65(1):77-85.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1159/000519143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34673638" target="_blank">34673638</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/34918628">Leiomyomatosis-like lymphangioleiomyomatosis: A case report of the colonic manifestation of tuberous sclerosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Erginoz E,
|
||
Taskin HE,
|
||
Cavus GH,
|
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Zengin AK</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2021 Dec 17;100(50):e27723.
|
||
doi: 10.1097/MD.0000000000027723.
|
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<span class="bold">PMID: </span><a href="/pubmed/34918628" target="_blank">34918628</a><a href="/pmc/articles/PMC8677895" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/17305725">Current treatment modalities for exudative retinal hamartomas secondary to tuberous sclerosis: review of the literature.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Mennel S,
|
||
Meyer CH,
|
||
Peter S,
|
||
Schmidt JC,
|
||
Kroll P</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol Scand</span>
|
||
2007 Mar;85(2):127-32.
|
||
doi: 10.1111/j.1600-0420.2006.00781.x.
|
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<span class="bold">PMID: </span><a href="/pubmed/17305725" target="_blank">17305725</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20hamartoma%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 (10)</a></div></div>
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