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<meta name="keywords" content="C3640024, abnormally small eyeball on one side, congenital abnormality, disease or syndrome, unilateral microphthalmos, unilateral nanophthalmos, 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="A developmental anomaly characterized by abnormal smallness of one eye." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Unilateral microphthalmos (Concept Id: C3640024)
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<!--
UID=768664
ConceptID=C3640024
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Unilateral microphthalmos</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>768664</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)&#10;Click for more information.">C3640024</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Abnormally small eyeball on one side; Unilateral Microphthalmos; Unilateral nanophthalmos</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011480">HP:0011480</a></td></tr>
</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_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 developmental anomaly characterized by abnormal smallness of one eye. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<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="TLline">Unilateral microphthalmos</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867562" ref="tree=MeSH" title="MedGen record for Abnormality of globe size">Abnormality of globe size</a></span><ul><li><span class="TLline"><a href="/medgen/10033" ref="tree=MeSH" title="MedGen record for Microphthalmia">Microphthalmia</a></span><ul><li><span class="matched_ds">Unilateral microphthalmos</span></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_75567"><div><strong>CHARGE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75567</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)&#10;Click for more information.">C0265354</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75567">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_501218"><div><strong>17q11.2 microduplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501218</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)&#10;Click for more information.">C3495679</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/501218">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767392"><div><strong>Autosomal recessive osteopetrosis 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767392</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)&#10;Click for more information.">C3554478</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal recessive osteopetrosis-8 (OPTB8) is characterized by the 'classical' features of osteopetrosis, macrocephaly, hepatosplenomegaly, and visual impairment, with varying severity (summary by Megarbane et al., 2013).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive osteopetrosis, see OPTB1 (259700).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767392">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648389"><div><strong>X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648389</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)&#10;Click for more information.">C4746975</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked deafness-7 (DFNX7) is a congenital form of bilateral mixed or conductive hearing loss, which may be progressive. It is not associated with vestibular symptoms (Xing et al., 2017).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648389">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1779113"><div><strong>Oculogastrointestinal-neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779113</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)&#10;Click for more information.">C5543355</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Oculogastrointestinal neurodevelopmental syndrome (OGIN) is characterized by microphthalmia and/or coloboma in association with other congenital anomalies, including imperforate anus, horseshoe kidney, and structural cardiac defects. Hearing loss and severe developmental delay are also observed in most patients (Zha et al., 2020; Mor-Shaked et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1779113">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">17q11.2 microduplication syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive osteopetrosis 8</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CHARGE syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1779113" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculogastrointestinal-neurodevelopmental syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648389" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome</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/36192130">Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Harding P,
Gore S,
Malka S,
Rajkumar J,
Oluonye N,
Moosajee M</span><br />
<span class="medgenPMjournal">Br J Ophthalmol</span>
2023 Nov 22;107(12):1925-1935.
doi: 10.1136/bjo-2022-321991.
<span class="bold">PMID: </span><a href="/pubmed/36192130" target="_blank">36192130</a><a href="/pmc/articles/PMC10715525" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32436650">Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Taha Najim R,
Topa A,
Jugård Y,
Casslén B,
Odersjö M,
Andersson Grönlund M</span><br />
<span class="medgenPMjournal">Acta Ophthalmol</span>
2020 Dec;98(8):848-858.
Epub 2020 May 21
doi: 10.1111/aos.14427.
<span class="bold">PMID: </span><a href="/pubmed/32436650" target="_blank">32436650</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15599246">Congenital microphthalmos with orbital cysts: distinct diagnostic features and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chaudhry IA,
Arat YO,
Shamsi FA,
Boniuk M</span><br />
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
2004 Nov;20(6):452-7.
doi: 10.1097/01.iop.0000143716.12643.98.
<span class="bold">PMID: </span><a href="/pubmed/15599246" target="_blank">15599246</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(unilateral%20microphthalmos)%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 (4)</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/19822908">Systemic and ophthalmological anomalies in congenital anophthalmic or microphthalmic patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schittkowski MP,
Guthoff RF</span><br />
<span class="medgenPMjournal">Br J Ophthalmol</span>
2010 Apr;94(4):487-93.
Epub 2009 Oct 12
doi: 10.1136/bjo.2009.163436.
<span class="bold">PMID: </span><a href="/pubmed/19822908" target="_blank">19822908</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17567663">Results of lacrimal assessment in patients with congenital clinical anophthalmos or blind microphthalmos.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schittkowski MP,
Guthoff RF</span><br />
<span class="medgenPMjournal">Br J Ophthalmol</span>
2007 Dec;91(12):1624-6.
Epub 2007 Jun 13
doi: 10.1136/bjo.2007.120121.
<span class="bold">PMID: </span><a href="/pubmed/17567663" target="_blank">17567663</a><a href="/pmc/articles/PMC2095504" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10519599">Expansion of the human microphthalmic orbit.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gossman MD,
Mohay J,
Roberts DM</span><br />
<span class="medgenPMjournal">Ophthalmology</span>
1999 Oct;106(10):2005-9.
doi: 10.1016/s0161-6420(99)90415-3.
<span class="bold">PMID: </span><a href="/pubmed/10519599" target="_blank">10519599</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3950839">Spontaneous corneal perforation and extrusion of intraocular contents in premature infants.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bachynski BN,
Andreu R,
Flynn JR</span><br />
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
1986 Jan-Feb;23(1):25-8.
doi: 10.3928/0191-3913-19860101-07.
<span class="bold">PMID: </span><a href="/pubmed/3950839" target="_blank">3950839</a></div>
<div class="nl"><a target="_blank" href="/pubmed/813347">Congenital retinal disinsertion syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boniuk M,
Hittner HM</span><br />
<span class="medgenPMjournal">Trans Sect Ophthalmol Am Acad Ophthalmol Otolaryngol</span>
1975 Nov-Dec;79(6):OP827-34.
<span class="bold">PMID: </span><a href="/pubmed/813347" target="_blank">813347</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Unilateral%20microphthalmos%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32852652">Case report: Unilateral optic nerve aplasia and developmental hemi-chiasmal dysplasia with VEP misrouting.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Handley SE,
Marmoy OR,
Gore SK,
Mankad K,
Thompson DA</span><br />
<span class="medgenPMjournal">Doc Ophthalmol</span>
2021 Apr;142(2):247-255.
Epub 2020 Aug 27
doi: 10.1007/s10633-020-09788-7.
<span class="bold">PMID: </span><a href="/pubmed/32852652" target="_blank">32852652</a><a href="/pmc/articles/PMC7943516" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29634607">Amniotic Band Syndrome: A Review of 2 Cases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Madan S,
Chaudhuri Z</span><br />
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
2018 Jul/Aug;34(4):e110-e113.
doi: 10.1097/IOP.0000000000001107.
<span class="bold">PMID: </span><a href="/pubmed/29634607" target="_blank">29634607</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21629142">Novel management of the microphthalmic orbit in a patient with PHACE syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vasaiwala R,
Sajja K,
Setabutr P</span><br />
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
2011 Nov-Dec;27(6):e156-8.
doi: 10.1097/IOP.0b013e318208319d.
<span class="bold">PMID: </span><a href="/pubmed/21629142" target="_blank">21629142</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2306448">Microphthalmos with colobomatous orbital cyst: clinical, histological, immunohistological, and electronmicroscopic findings.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lieb W,
Rochels R,
Gronemeyer U</span><br />
<span class="medgenPMjournal">Br J Ophthalmol</span>
1990 Jan;74(1):59-62.
doi: 10.1136/bjo.74.1.59.
<span class="bold">PMID: </span><a href="/pubmed/2306448" target="_blank">2306448</a><a href="/pmc/articles/PMC1041983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Unilateral%20microphthalmos%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 (4)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/21629142">Novel management of the microphthalmic orbit in a patient with PHACE syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vasaiwala R,
Sajja K,
Setabutr P</span><br />
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
2011 Nov-Dec;27(6):e156-8.
doi: 10.1097/IOP.0b013e318208319d.
<span class="bold">PMID: </span><a href="/pubmed/21629142" target="_blank">21629142</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17567663">Results of lacrimal assessment in patients with congenital clinical anophthalmos or blind microphthalmos.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schittkowski MP,
Guthoff RF</span><br />
<span class="medgenPMjournal">Br J Ophthalmol</span>
2007 Dec;91(12):1624-6.
Epub 2007 Jun 13
doi: 10.1136/bjo.2007.120121.
<span class="bold">PMID: </span><a href="/pubmed/17567663" target="_blank">17567663</a><a href="/pmc/articles/PMC2095504" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Unilateral%20microphthalmos%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/19822908">Systemic and ophthalmological anomalies in congenital anophthalmic or microphthalmic patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schittkowski MP,
Guthoff RF</span><br />
<span class="medgenPMjournal">Br J Ophthalmol</span>
2010 Apr;94(4):487-93.
Epub 2009 Oct 12
doi: 10.1136/bjo.2009.163436.
<span class="bold">PMID: </span><a href="/pubmed/19822908" target="_blank">19822908</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16707526">Injectable self inflating hydrogel pellet expanders for the treatment of orbital volume deficiency in congenital microphthalmos: preliminary results with a new therapeutic approach.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schittkowski MP,
Guthoff RF</span><br />
<span class="medgenPMjournal">Br J Ophthalmol</span>
2006 Sep;90(9):1173-7.
Epub 2006 May 17
doi: 10.1136/bjo.2006.092478.
<span class="bold">PMID: </span><a href="/pubmed/16707526" target="_blank">16707526</a><a href="/pmc/articles/PMC1857413" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Unilateral%20microphthalmos%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/17567663">Results of lacrimal assessment in patients with congenital clinical anophthalmos or blind microphthalmos.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schittkowski MP,
Guthoff RF</span><br />
<span class="medgenPMjournal">Br J Ophthalmol</span>
2007 Dec;91(12):1624-6.
Epub 2007 Jun 13
doi: 10.1136/bjo.2007.120121.
<span class="bold">PMID: </span><a href="/pubmed/17567663" target="_blank">17567663</a><a href="/pmc/articles/PMC2095504" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Unilateral%20microphthalmos%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 (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Unilateral%20microphthalmos" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(unilateral%20microphthalmos)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<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="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Unilateral%20microphthalmos" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Unilateral%20microphthalmos" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=1&amp;linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Unilateral%20microphthalmos%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=2" target="_blank">Reviews in PubMed</a>
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