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<!--
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UID=6409
|
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ConceptID=C0026205
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Miosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6409</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.">C0026205</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Constricted Pupil; Constricted Pupils; Mioses; Mioses, Persistent; Mioses, Pupillary; Miosis, Persistent; Miosis, Pupillary; Persistent Mioses; Persistent Miosis; Pupil, Constricted; Pupil, Small; Pupillary Mioses; Pupillary Miosis; Pupils, Constricted; Pupils, Small; Small Pupil; Small Pupils</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Persistent miosis (63251006)</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:0000616">HP:0000616</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">Abnormal (non-physiological) constriction of the pupil. [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 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>
|
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<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">Miosis</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/868525" ref="tree=MeSH" title="MedGen record for Abnormal eye physiology">Abnormal eye physiology</a></span><ul><li><span class="TLline"><a href="/medgen/214629" ref="tree=MeSH" title="MedGen record for Abnormal pupillary function">Abnormal pupillary function</a></span><ul><li><span class="matched_ds">Miosis</span><ul><li><span class="TLline"><a href="/medgen/227002" ref="tree=MeSH" title="MedGen record for Congenital miosis">Congenital miosis</a></span></li><li><span class="TLline"><a href="/medgen/5616" ref="tree=MeSH" title="MedGen record for Horner syndrome">Horner syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/327111" ref="tree=MeSH" title="MedGen record for Congenital Horner syndrome">Congenital Horner syndrome</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_6009"><div><strong>Langer-Giedion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6009</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.">C0023003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by a contiguous gene deletion of TRPS1, RAD21, and EXT1). Both TRPS types are characterized by distinctive facial features (large nose with broad nasal ridge and tip and underdeveloped alae; thick and broad medial eyebrows; long philtrum; thin vermilion of the upper lip; and large prominent ears); ectodermal features (fine, sparse, depigmented, and slow-growing hair and dystrophic nails); and skeletal findings (short stature, brachydactyly with ulnar or radial deviation of the fingers, short feet, and early, marked hip dysplasia). TRPS II is additionally characterized by multiple osteochondromas and an increased risk of mild-to-moderate intellectual disability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6009">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_11161"><div><strong>Phytanic acid storage disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11161</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.">C0034960</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11161">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_66320"><div><strong>Cerebrooculofacioskeletal syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66320</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.">C0220722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66320">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_220945"><div><strong>Deficiency of aromatic-L-amino-acid decarboxylase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220945</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.">C1291564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with aromatic L-amino acid decarboxylase (AADC) deficiency typically have complex symptoms, including motor, behavioral, cognitive, and autonomic findings. Symptom onset is in early infancy, typically within the first six months of life. The most common initial symptoms are often nonspecific, and include feeding difficulties, hypotonia, and developmental delay. More specific symptoms include oculogyric crises (which occur in the vast majority of affected individuals, typically starting in infancy), movement disorders (especially dystonia), and autonomic dysfunction (excessive sweating, temperature instability, ptosis, nasal congestion, hypoglycemic episodes). Sleep disturbance is present in a majority of affected individuals and can include insomnia, hypersomnia, or both. Mood disturbance, including irritability and anxiety, are also common. Brain MRI is typically either normal or may demonstrate nonspecific abnormalities, such as mild diffuse cerebral atrophy or delayed myelination. Seizures are an uncommon finding, occurring in fewer than 5% of affected individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220945">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_227002"><div><strong>Congenital miosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>227002</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.">C1303009</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inherited congenital microcoria, also referred to as congenital miosis, is characterized by bilateral small pupils (diameter less than 2 mm) that result from an underdevelopment of the dilator pupillae muscle of the iris (Holth and Berner, 1923; Simpson and Parsons, 1989). Iris transillumination defects are a constant feature. The pupil dilates poorly or not at all in response to topically administered mydriatic drugs. The disorder is transmitted as an autosomal dominant trait with complete penetrance and is associated with goniodysgenesis and glaucoma (Tawara and Inomata, 1983; Mazzeo et al., 1986; Toulemont et al., 1995).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/227002">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_320475"><div><strong>Microphthalmia, isolated, with cataract 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320475</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.">C1834919</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/320475">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342471"><div><strong>Ophthalmoplegia totalis with ptosis and miosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342471</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.">C1850314</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Total ophthalmoplegia involves total paralysis of all extra- and intraocular muscles. If one or more of the external muscles, including the levator palpebrae, is not affected, the condition is known as incomplete or partial ophthalmoplegia. If only 1 nerve is affected, the palsy is named after that nerve (see, e.g., abducens palsy, 100200) (Waardenburg, 1963).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342471">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350028"><div><strong>Stormorken syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350028</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.">C1861451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia, tubular aggregate myopathy, congenital miosis, and ichthyosis. Additional features may include headache or recurrent stroke-like episodes (summary by Misceo et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350028">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350040"><div><strong>Cluster headache, familial</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350040</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.">C1861513</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Headache Classification Committee of the International Headache Society (1988) listed the following criteria for cluster headache (CH): at least 5 attacks of severe unilateral orbital, supraorbital, and/or temporal pain, lasting 15 to 180 minutes, associated with at least 1 of 8 local autonomic signs, and occurring once every other day to 8 per day. Approximately 85% of CH patients have the episodic subtype, in which the headaches occur in cluster periods lasting from 7 days to 1 year and separated by attack-free intervals of 1 month or more. The remainder of patients have the chronic subtype, in which attacks recur for greater than 1 year without remission or with remissions lasting less than 1 month (Lipton et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350040">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350085"><div><strong>Spinocerebellar ataxia type 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350085</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.">C1861732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350085">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355075"><div><strong>Neuronal intranuclear inclusion disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355075</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.">C1863843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neuronal intranuclear inclusion disease (NIID) is an autosomal dominant, slowly progressive neurodegenerative disorder characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction. The age at onset varies, but most individuals present as adults between about 30 and 70 years of age. Pathologic investigation shows eosinophilic intranuclear inclusions in almost all cell types, including neurons, skin cells, fibroblasts, and skeletal muscle. Brain imaging shows a characteristic leukoencephalopathy with high intensity signals in the corticomedullary junction on diffusion-weighted imaging (DWI), as well as white matter abnormalities in subcortical and brainstem regions. Skin biopsy combined with brain imaging is useful for diagnosis (summary by Sone et al., 2016). The phenotype in some cases is suggestive of Parkinson disease (see 168600) and/or Alzheimer disease (see 104300), consistent with an evolving phenotypic spectrum of adult-onset NIID (summary by Tian et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355075">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481833"><div><strong>Warburg micro syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481833</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.">C3280203</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481833">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862994"><div><strong>Myopathy, tubular aggregate, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862994</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.">C4014557</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862994">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_894574"><div><strong>Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894574</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.">C4225424</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic eye disease with characteristics of optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/894574">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1385311"><div><strong>Isolated congenital megalocornea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385311</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.">C4518341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment. The disease has characteristics of bilateral enlargement of the corneal diameter and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development and secondary glaucoma. There is evidence this disease is caused by mutation in the CHRDL1 gene on chromosome Xq23.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385311">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684457"><div><strong>Cataract 48</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684457</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.">C5193082</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cataract-48 (CTRCT48) is characterized by infantile or early-childhood cataracts and visual impairment (Ansar et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684457">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794166"><div><strong>Oculopharyngodistal myopathy 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794166</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.">C5561956</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculopharyngodistal myopathy-3 (OPDM3) is a neuromyodegenerative disease characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties. The onset of the disorder is usually in adulthood, although childhood onset has rarely been reported. Additional features include hyporeflexia, proximal muscle weakness, neck muscle weakness, dysarthria, dysphagia, and ptosis. Some patients may develop pigmentary retinopathy, peripheral neuropathy, or hearing loss. Cognition is usually not affected, but there may be deficits or psychiatric manifestations. Brain imaging tends to show a leukoencephalopathy, often with a characteristic linear signal along the corticomedullary junction on brain imaging. Skin and muscle biopsy show intranuclear inclusions and rimmed vacuoles. Many of the clinical features are reminiscent of NIID, suggesting that these disorders likely fall within a broad phenotypic spectrum of diseases with neuromyodegenerative features associated with abnormal repeat expansions in this gene (summary by Ogasawara et al., 2020 and Yu et al., 2021). For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794166">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684457" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract 48</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebrooculofacioskeletal syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cluster headache, familial</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_894574" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_227002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital miosis</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of aromatic-L-amino-acid decarboxylase</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1385311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated congenital megalocornea</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Langer-Giedion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320475" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia, isolated, with cataract 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862994" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, tubular aggregate, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal intranuclear inclusion disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculopharyngodistal myopathy 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342471" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ophthalmoplegia totalis with ptosis and miosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_11161" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phytanic acid storage disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 29</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stormorken syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Warburg micro syndrome 3</a></div></span></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/31448844">Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morin G,
|
||
Biancalana V,
|
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Echaniz-Laguna A,
|
||
Noury JB,
|
||
Lornage X,
|
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Moggio M,
|
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Ripolone M,
|
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Violano R,
|
||
Marcorelles P,
|
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Maréchal D,
|
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Renaud F,
|
||
Maurage CA,
|
||
Tard C,
|
||
Cuisset JM,
|
||
Laporte J,
|
||
Böhm J</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2020 Jan;41(1):17-37.
|
||
Epub 2019 Sep 15
|
||
doi: 10.1002/humu.23899.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31448844" target="_blank">31448844</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30120560">Cluster headache: pathophysiology, diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ljubisavljevic S,
|
||
Zidverc Trajkovic J</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2019 May;266(5):1059-1066.
|
||
Epub 2018 Aug 17
|
||
doi: 10.1007/s00415-018-9007-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30120560" target="_blank">30120560</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30328517">Hemicrania Continua: a Clinical Perspective on Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mehta A,
|
||
Chilakamarri P,
|
||
Zubair A,
|
||
Kuruvilla DE</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2018 Oct 17;18(12):95.
|
||
doi: 10.1007/s11910-018-0899-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30328517" target="_blank">30328517</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22miosis%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 (26)</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/27797808">Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sone J,
|
||
Mori K,
|
||
Inagaki T,
|
||
Katsumata R,
|
||
Takagi S,
|
||
Yokoi S,
|
||
Araki K,
|
||
Kato T,
|
||
Nakamura T,
|
||
Koike H,
|
||
Takashima H,
|
||
Hashiguchi A,
|
||
Kohno Y,
|
||
Kurashige T,
|
||
Kuriyama M,
|
||
Takiyama Y,
|
||
Tsuchiya M,
|
||
Kitagawa N,
|
||
Kawamoto M,
|
||
Yoshimura H,
|
||
Suto Y,
|
||
Nakayasu H,
|
||
Uehara N,
|
||
Sugiyama H,
|
||
Takahashi M,
|
||
Kokubun N,
|
||
Konno T,
|
||
Katsuno M,
|
||
Tanaka F,
|
||
Iwasaki Y,
|
||
Yoshida M,
|
||
Sobue G</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2016 Dec;139(Pt 12):3170-3186.
|
||
Epub 2016 Oct 25
|
||
doi: 10.1093/brain/aww249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27797808" target="_blank">27797808</a><a href="/pmc/articles/PMC5382941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26065497">Small Pupil--Big Problem: A Management Algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ratra V,
|
||
Lam DS</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
||
2015 May-Jun;4(3):131-3.
|
||
doi: 10.1097/APO.0000000000000119.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26065497" target="_blank">26065497</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19077827">Intraoperative floppy iris syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdel-Aziz S,
|
||
Mamalis N</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
2009 Jan;20(1):37-41.
|
||
doi: 10.1097/ICU.0b013e32831bc0ad.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19077827" target="_blank">19077827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18725617">Heterochromia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ur Rehman H</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2008 Aug 26;179(5):447-8.
|
||
doi: 10.1503/cmaj.070497.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18725617" target="_blank">18725617</a><a href="/pmc/articles/PMC2518194" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2353431">Pediatric clonidine intoxications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bamshad MJ,
|
||
Wasserman GS</span><br />
|
||
<span class="medgenPMjournal">Vet Hum Toxicol</span>
|
||
1990 Jun;32(3):220-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2353431" target="_blank">2353431</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Miosis%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 (392)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31584534">The Pupil.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouffard MA</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2019 Oct;25(5):1194-1214.
|
||
doi: 10.1212/CON.0000000000000771.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31584534" target="_blank">31584534</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27741997">Neuro-Ophthalmology in Emergency Medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huff JS,
|
||
Austin EW</span><br />
|
||
<span class="medgenPMjournal">Emerg Med Clin North Am</span>
|
||
2016 Nov;34(4):967-986.
|
||
doi: 10.1016/j.emc.2016.06.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27741997" target="_blank">27741997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21277488">Pediatric ocular sonography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva CT,
|
||
Brockley CR,
|
||
Crum A,
|
||
Mandelstam SA</span><br />
|
||
<span class="medgenPMjournal">Semin Ultrasound CT MR</span>
|
||
2011 Feb;32(1):14-27.
|
||
doi: 10.1053/j.sult.2010.09.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21277488" target="_blank">21277488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18725617">Heterochromia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ur Rehman H</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2008 Aug 26;179(5):447-8.
|
||
doi: 10.1503/cmaj.070497.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18725617" target="_blank">18725617</a><a href="/pmc/articles/PMC2518194" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14615640">Horner syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walton KA,
|
||
Buono LM</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
2003 Dec;14(6):357-63.
|
||
doi: 10.1097/00055735-200312000-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14615640" target="_blank">14615640</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Miosis%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 (413)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38848747">Opioid-Associated Nervous System Injuries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Griffin K,
|
||
Stitt D</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2024 Aug;44(4):452-458.
|
||
Epub 2024 Jun 7
|
||
doi: 10.1055/s-0044-1787545.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38848747" target="_blank">38848747</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33973905">Pharmacological strategies for treating presbyopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Orman B,
|
||
Benozzi G</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
2021 Jul 1;32(4):319-323.
|
||
doi: 10.1097/ICU.0000000000000770.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33973905" target="_blank">33973905</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24769343">Xylazine intoxication in humans and its importance as an emerging adulterant in abused drugs: A comprehensive review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruiz-Colón K,
|
||
Chavez-Arias C,
|
||
Díaz-Alcalá JE,
|
||
Martínez MA</span><br />
|
||
<span class="medgenPMjournal">Forensic Sci Int</span>
|
||
2014 Jul;240:1-8.
|
||
Epub 2014 Mar 26
|
||
doi: 10.1016/j.forsciint.2014.03.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24769343" target="_blank">24769343</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19077827">Intraoperative floppy iris syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdel-Aziz S,
|
||
Mamalis N</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
2009 Jan;20(1):37-41.
|
||
doi: 10.1097/ICU.0b013e32831bc0ad.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19077827" target="_blank">19077827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3888579">Butorphanol.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pachter IJ,
|
||
Evens RP</span><br />
|
||
<span class="medgenPMjournal">Drug Alcohol Depend</span>
|
||
1985 Feb;14(3-4):325-38.
|
||
doi: 10.1016/0376-8716(85)90065-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3888579" target="_blank">3888579</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Miosis%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 (670)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33174155">Incidence of Horner syndrome associated with neuroblastic disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuchalska K,
|
||
Barełkowska M,
|
||
Derwich K,
|
||
Jończyk-Potoczna K,
|
||
Gotz-Więckowska A</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2021 Apr;37(4):1243-1247.
|
||
Epub 2020 Nov 10
|
||
doi: 10.1007/s00381-020-04966-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33174155" target="_blank">33174155</a><a href="/pmc/articles/PMC8009793" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18725617">Heterochromia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ur Rehman H</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2008 Aug 26;179(5):447-8.
|
||
doi: 10.1503/cmaj.070497.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18725617" target="_blank">18725617</a><a href="/pmc/articles/PMC2518194" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18651939">Cluster headache.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leroux E,
|
||
Ducros A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2008 Jul 23;3:20.
|
||
doi: 10.1186/1750-1172-3-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18651939" target="_blank">18651939</a><a href="/pmc/articles/PMC2517059" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10668120">Raeder's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salvesen R</span><br />
|
||
<span class="medgenPMjournal">Cephalalgia</span>
|
||
1999 Dec;19 Suppl 25:42-5.
|
||
doi: 10.1177/0333102499019s2511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10668120" target="_blank">10668120</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10424936">Olanzapine overdose mimicking opioid intoxication.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Malley GF,
|
||
Seifert S,
|
||
Heard K,
|
||
Daly F,
|
||
Dart RC</span><br />
|
||
<span class="medgenPMjournal">Ann Emerg Med</span>
|
||
1999 Aug;34(2):279-81.
|
||
doi: 10.1016/s0196-0644(99)70249-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10424936" target="_blank">10424936</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Miosis%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 (157)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33826949">Pupillary light reflex as a diagnostic aid from computational viewpoint: A systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinheiro HM,
|
||
da Costa RM</span><br />
|
||
<span class="medgenPMjournal">J Biomed Inform</span>
|
||
2021 May;117:103757.
|
||
Epub 2021 Apr 4
|
||
doi: 10.1016/j.jbi.2021.103757.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33826949" target="_blank">33826949</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28839109">Ptosis, miosis and cats.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Espí Rito Santo R,
|
||
Salgado C,
|
||
Prata F,
|
||
Mouzinho A</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2017 Aug 24;2017
|
||
doi: 10.1136/bcr-2017-219673.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28839109" target="_blank">28839109</a><a href="/pmc/articles/PMC5612533" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28787524">Capsule-Fixated Intraocular Lens Implantation in Small Pupil Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schojai M,
|
||
Schultz T,
|
||
Burkhard Dick H</span><br />
|
||
<span class="medgenPMjournal">J Refract Surg</span>
|
||
2017 Aug 1;33(8):568-570.
|
||
doi: 10.3928/1081597X-20170620-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28787524" target="_blank">28787524</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27797808">Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sone J,
|
||
Mori K,
|
||
Inagaki T,
|
||
Katsumata R,
|
||
Takagi S,
|
||
Yokoi S,
|
||
Araki K,
|
||
Kato T,
|
||
Nakamura T,
|
||
Koike H,
|
||
Takashima H,
|
||
Hashiguchi A,
|
||
Kohno Y,
|
||
Kurashige T,
|
||
Kuriyama M,
|
||
Takiyama Y,
|
||
Tsuchiya M,
|
||
Kitagawa N,
|
||
Kawamoto M,
|
||
Yoshimura H,
|
||
Suto Y,
|
||
Nakayasu H,
|
||
Uehara N,
|
||
Sugiyama H,
|
||
Takahashi M,
|
||
Kokubun N,
|
||
Konno T,
|
||
Katsuno M,
|
||
Tanaka F,
|
||
Iwasaki Y,
|
||
Yoshida M,
|
||
Sobue G</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2016 Dec;139(Pt 12):3170-3186.
|
||
Epub 2016 Oct 25
|
||
doi: 10.1093/brain/aww249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27797808" target="_blank">27797808</a><a href="/pmc/articles/PMC5382941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16001386">Iatrogenic Horner's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavazza S,
|
||
Bocciolini C,
|
||
Gasparrini E,
|
||
Tassinari G</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2005 Jul-Aug;15(4):504-6.
|
||
doi: 10.1177/112067210501500415.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16001386" target="_blank">16001386</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Miosis%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 (302)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/33826949">Pupillary light reflex as a diagnostic aid from computational viewpoint: A systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinheiro HM,
|
||
da Costa RM</span><br />
|
||
<span class="medgenPMjournal">J Biomed Inform</span>
|
||
2021 May;117:103757.
|
||
Epub 2021 Apr 4
|
||
doi: 10.1016/j.jbi.2021.103757.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33826949" target="_blank">33826949</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31186293">Paediatric Horner's syndrome: is investigation for underlying malignancy always required?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braungart S,
|
||
Craigie RJ,
|
||
Farrelly P,
|
||
Losty PD</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2019 Oct;104(10):984-987.
|
||
Epub 2019 Jun 11
|
||
doi: 10.1136/archdischild-2019-317007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31186293" target="_blank">31186293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30079795">Toxicity of tapentadol: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Channell JS,
|
||
Schug S</span><br />
|
||
<span class="medgenPMjournal">Pain Manag</span>
|
||
2018 Sep 1;8(5):327-339.
|
||
Epub 2018 Aug 6
|
||
doi: 10.2217/pmt-2018-0027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30079795" target="_blank">30079795</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28139533">Amitraz, an underrecognized poison: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dhooria S,
|
||
Agarwal R</span><br />
|
||
<span class="medgenPMjournal">Indian J Med Res</span>
|
||
2016 Sep;144(3):348-358.
|
||
doi: 10.4103/0971-5916.198723.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28139533" target="_blank">28139533</a><a href="/pmc/articles/PMC5320840" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/16231955">Antipsychotic poisoning in young children: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Isbister GK,
|
||
Balit CR,
|
||
Kilham HA</span><br />
|
||
<span class="medgenPMjournal">Drug Saf</span>
|
||
2005;28(11):1029-44.
|
||
doi: 10.2165/00002018-200528110-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16231955" target="_blank">16231955</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Miosis%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22miosis%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">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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Miosis%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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