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<meta name="keywords" content="C0338508, atrophies, juvenile optic, atrophies, kjer-type optic, atrophy, juvenile optic, atrophy, kjer's optic, atrophy, kjer-type optic, autosomal dominant optic atrophy, autosomal dominant optic atrophy classic form, autosomal dominant optic atrophy kjer type, autosomal dominant optic atrophy, classic form, autosomal dominant optic atrophy, kjer type, disease or syndrome, dominant optic atrophies, dominant optic atrophy, juvenile optic atrophies, juvenile optic atrophy, kjer optic atrophy, kjer type optic atrophy, kjer's optic atrophy, kjer-type optic atrophies, kjer-type optic atrophy, kjers optic atrophy, oak, opa1, optic atrophies, dominant, optic atrophies, juvenile, optic atrophies, kjer-type, optic atrophy 1, optic atrophy 1s, optic atrophy type 1, optic atrophy, autosomal dominant, optic atrophy, dominant, optic atrophy, hereditary, autosomal dominant, optic atrophy, juvenile, optic atrophy, kjer type, optic atrophy, kjer's, optic atrophy, kjer-type, 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="Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998). Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see 125250. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010). Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON; 535000), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. Genetic Heterogeneity of Optic Atrophy Also see optic atrophy-2 (OPA2; 311050), mapped to chromosome Xp11.4-p11.21; OPA3 (165300), caused by mutation in the OPA3 gene (606580) on chromosome 19q13; OPA4 (605293), mapped to chromosome 18q12.2-q12.3; OPA5 (610708), caused by mutation in the DNM1L gene (603850) on chromosome 12p11; OPA6 (258500), mapped to chromosome 8q21-q22; OPA7 (612989), caused by mutation in the TMEM126A gene (612988) on chromosome 11q14; OPA8 (616648), mapped to chromosome 16q21-q22; OPA9 (616289), caused by mutation in the ACO2 gene (100850) on chromosome 22q13; OPA10 (616732), caused by mutation in the RTN4IP1 gene (610502) on chromosome 6q21; OPA11 (617302), caused by mutation in the YME1L1 gene (607472) on chromosome 10p12; OPA12 (618977), caused by mutation in the AFG3L2 gene (604581) on chromosome 18p11; OPA13 (165510), caused by mutation in the SSBP1 gene (600439) on chromosome 7q34; OPA14 (620550), caused by mutation in the MIEF1 gene (615497) on chromosome 22q13; OPA15 (620583), caused by mutation in the MCAT gene (614479) on chromosome 22q13; and OPA16 (620629), caused by mutation in the MECR gene (608205) on chromosome 1p35." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=137902
|
||
ConceptID=C0338508
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal dominant optic atrophy classic form<span class="h1sub">(OPA1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137902</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0338508</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>KJER-TYPE OPTIC ATROPHY; OPA1; Optic Atrophy Type 1; OPTIC ATROPHY, JUVENILE</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Autosomal dominant optic atrophy classic form (717336005); Autosomal dominant optic atrophy Kjer type (717336005); Kjer optic atrophy (717336005); Optic atrophy type 1 (717336005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="OPA1 - ID: 4976 - NCBI Gene" href="/gene/4976" class="medgenPMinfo">OPA1</a> (3q29)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008134" target="_blank">MONDO:0008134</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/165500" target="_blank">165500</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98673">ORPHA98673</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 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">Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998). Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see 125250. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010). Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON; 535000), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. Genetic Heterogeneity of Optic Atrophy Also see optic atrophy-2 (OPA2; 311050), mapped to chromosome Xp11.4-p11.21; OPA3 (165300), caused by mutation in the OPA3 gene (606580) on chromosome 19q13; OPA4 (605293), mapped to chromosome 18q12.2-q12.3; OPA5 (610708), caused by mutation in the DNM1L gene (603850) on chromosome 12p11; OPA6 (258500), mapped to chromosome 8q21-q22; OPA7 (612989), caused by mutation in the TMEM126A gene (612988) on chromosome 11q14; OPA8 (616648), mapped to chromosome 16q21-q22; OPA9 (616289), caused by mutation in the ACO2 gene (100850) on chromosome 22q13; OPA10 (616732), caused by mutation in the RTN4IP1 gene (610502) on chromosome 6q21; OPA11 (617302), caused by mutation in the YME1L1 gene (607472) on chromosome 10p12; OPA12 (618977), caused by mutation in the AFG3L2 gene (604581) on chromosome 18p11; OPA13 (165510), caused by mutation in the SSBP1 gene (600439) on chromosome 7q34; OPA14 (620550), caused by mutation in the MIEF1 gene (615497) on chromosome 22q13; OPA15 (620583), caused by mutation in the MCAT gene (614479) on chromosome 22q13; and OPA16 (620629), caused by mutation in the MECR gene (608205) on chromosome 1p35. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Optic atrophy type 1 is a condition that often causes slowly worsening vision, usually beginning in childhood. People with optic atrophy type 1 typically experience a narrowing of their field of vision (tunnel vision). Affected individuals gradually lose their sight as their field of vision becomes smaller. Both eyes are usually affected equally, but the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.<br /><br />In addition to vision loss, people with optic atrophy type 1 frequently have problems with color vision (color vision deficiency) that make it difficult or impossible to distinguish between shades of blue and green.<br /><br />In the early stages of the condition, individuals with optic atrophy type 1 experience a progressive loss of certain cells within the retina, which is a specialized light-sensitive tissue that lines the back of the eye. The loss of these cells (known as retinal ganglion cells) is followed by the degeneration (atrophy) of the nerves that relay visual information from the eye to the brain (optic nerves), which results in further vision loss. Atrophy causes these nerves to have an abnormally pale appearance (pallor), which can be seen during an eye examination. <a target="_blank" href="https://medlineplus.gov/genetics/condition/optic-atrophy-type-1">https://medlineplus.gov/genetics/condition/optic-atrophy-type-1</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871342"><div><strong>Abnormal amplitude of pattern reversal visual evoked potentials</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871342</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.">C4025834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871342">Feature record</a> | <a href="/medgen?term=%22Abnormal%20amplitude%20of%20pattern%20reversal%20visual%20evoked%20potentials%22%5BClinical%20Features%5D%20OR%20871342%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113169"><div><strong>Proximal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113169</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.">C0221629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lack of strength of the proximal muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113169">Feature record</a> | <a href="/medgen?term=%22Proximal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20113169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69133"><div><strong>Pallor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69133</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.">C0241137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally pale skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69133">Feature record</a> | <a href="/medgen?term=%22Pallor%22%5BClinical%20Features%5D%20OR%2069133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</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.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57750"><div><strong>Central scotoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57750</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.">C0152191</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An area of depressed vision located at the point of fixation and that interferes with central vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57750">Feature record</a> | <a href="/medgen?term=%22Central%20scotoma%22%5BClinical%20Features%5D%20OR%2057750%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_102324"><div><strong>Red-green dyschromatopsia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>102324</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.">C0155016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty with discriminating red and green hues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/102324">Feature record</a> | <a href="/medgen?term=%22Red-green%20dyschromatopsia%22%5BClinical%20Features%5D%20OR%20102324%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57827"><div><strong>Blue color blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57827</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.">C0155017</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57827">Feature record</a> | <a href="/medgen?term=%22Blue%20color%20blindness%22%5BClinical%20Features%5D%20OR%2057827%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_102439"><div><strong>Progressive external ophthalmoplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>102439</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.">C0162674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time. The first sign of progressive external ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or both eyelids. As ptosis worsens, affected individuals may use the forehead muscles to try to lift the eyelids, or they may lift up their chin in order to see. Another characteristic feature of progressive external ophthalmoplegia is weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals have to turn their head to see in different directions, especially as the ophthalmoplegia worsens. People with progressive external ophthalmoplegia may also have general weakness of the muscles used for movement (myopathy), particularly those in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia).\n\nWhen the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain an excess of cell structures called mitochondria and are known as ragged-red fibers.\n\nAlthough muscle weakness is the primary symptom of progressive external ophthalmoplegia, this condition can be accompanied by other signs and symptoms. In these instances, the condition is referred to as progressive external ophthalmoplegia plus (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, and depression.\n\nProgressive external ophthalmoplegia is part of a spectrum of disorders with overlapping signs and symptoms. Similar disorders include ataxia neuropathy spectrum and Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, the other conditions in this spectrum can involve weakness of the eye muscles. However, these conditions have many additional features not shared by most people with progressive external ophthalmoplegia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/102439">Feature record</a> | <a href="/medgen?term=%22Progressive%20external%20ophthalmoplegia%22%5BClinical%20Features%5D%20OR%20102439%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65889"><div><strong>Reduced visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65889</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished clarity of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65889">Feature record</a> | <a href="/medgen?term=%22Reduced%20visual%20acuity%22%5BClinical%20Features%5D%20OR%2065889%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82870"><div><strong>Centrocecal scotoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82870</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.">C0271196</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82870">Feature record</a> | <a href="/medgen?term=%22Centrocecal%20scotoma%22%5BClinical%20Features%5D%20OR%2082870%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_124399"><div><strong>Horizontal nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124399</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.">C0271385</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nystagmus consisting of horizontal to-and-fro eye movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124399">Feature record</a> | <a href="/medgen?term=%22Horizontal%20nystagmus%22%5BClinical%20Features%5D%20OR%20124399%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_777085"><div><strong>Visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777085</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.">C3665347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/777085">Feature record</a> | <a href="/medgen?term=%22Visual%20impairment%22%5BClinical%20Features%5D%20OR%20777085%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57827" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blue color blindness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central scotoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82870" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Centrocecal scotoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_124399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Horizontal nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_102439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_102324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Red-green dyschromatopsia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced visual acuity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_777085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual impairment</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pallor</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal muscle weakness</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871342" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal amplitude of pattern reversal visual evoked potentials</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li></ul></li></ul></div></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><li><a href="#tabORDO">Orphanet</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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0338508[DISCUI]&test_type=Clinical" ref="ncbi_uid=137902">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=137902" target="_blank" href="/omim/165500">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=137902" ref="ncbi_uid=137902">V</a></span></span><span class="TLline">Autosomal dominant optic atrophy classic form</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/5092" ref="tree=MeSH" title="MedGen record for Disorder of eye">Disorder of eye</a></span><ul><li><span class="TLline"><a href="/medgen/41933" ref="tree=MeSH" title="MedGen record for Hereditary eye diseases">Hereditary eye diseases</a></span><ul><li><span class="TLline"><a href="/medgen/45207" ref="tree=MeSH" title="MedGen record for Hereditary optic atrophy">Hereditary optic atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1647918" ref="tree=MeSH" title="MedGen record for Dominant hereditary optic atrophy">Dominant hereditary optic atrophy</a></span><ul><li><span class="matched_ds">Autosomal dominant optic atrophy classic form</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=13689&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Autosomal dominant optic atrophy classic form</span> in Orphanet.</div></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/38278202">AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amore G,
|
||
Romagnoli M,
|
||
Carbonelli M,
|
||
Cascavilla ML,
|
||
De Negri AM,
|
||
Carta A,
|
||
Parisi V,
|
||
Di Renzo A,
|
||
Schiavi C,
|
||
Lenzetti C,
|
||
Zenesini C,
|
||
Ormanbekova D,
|
||
Palombo F,
|
||
Fiorini C,
|
||
Caporali L,
|
||
Carelli V,
|
||
Barboni P,
|
||
La Morgia C</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Jun;262:114-124.
|
||
Epub 2024 Jan 24
|
||
doi: 10.1016/j.ajo.2024.01.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38278202" target="_blank">38278202</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36422516">Current treatment options for treating OPA1-mutant dominant optic atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferro Desideri L,
|
||
Traverso CE,
|
||
Iester M</span><br />
|
||
<span class="medgenPMjournal">Drugs Today (Barc)</span>
|
||
2022 Nov;58(11):547-552.
|
||
doi: 10.1358/dot.2022.58.11.3448291.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36422516" target="_blank">36422516</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24603424">Treatment strategies for inherited optic neuropathies: past, present and future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu-Wai-Man P,
|
||
Votruba M,
|
||
Moore AT,
|
||
Chinnery PF</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2014 May;28(5):521-37.
|
||
Epub 2014 Mar 7
|
||
doi: 10.1038/eye.2014.37.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24603424" target="_blank">24603424</a><a href="/pmc/articles/PMC4017118" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autosomal%20dominant%20optic%20atrophy%20classic%20form)%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 (15)</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/38278202">AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amore G,
|
||
Romagnoli M,
|
||
Carbonelli M,
|
||
Cascavilla ML,
|
||
De Negri AM,
|
||
Carta A,
|
||
Parisi V,
|
||
Di Renzo A,
|
||
Schiavi C,
|
||
Lenzetti C,
|
||
Zenesini C,
|
||
Ormanbekova D,
|
||
Palombo F,
|
||
Fiorini C,
|
||
Caporali L,
|
||
Carelli V,
|
||
Barboni P,
|
||
La Morgia C</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Jun;262:114-124.
|
||
Epub 2024 Jan 24
|
||
doi: 10.1016/j.ajo.2024.01.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38278202" target="_blank">38278202</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32243103">Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romagnoli M,
|
||
La Morgia C,
|
||
Carbonelli M,
|
||
Di Vito L,
|
||
Amore G,
|
||
Zenesini C,
|
||
Cascavilla ML,
|
||
Barboni P,
|
||
Carelli V</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2020 Apr;7(4):590-594.
|
||
Epub 2020 Apr 3
|
||
doi: 10.1002/acn3.51026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32243103" target="_blank">32243103</a><a href="/pmc/articles/PMC7187718" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26444403">Therapeutic Approaches to Inherited Optic Neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu-Wai-Man P</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2015 Oct;35(5):578-86.
|
||
Epub 2015 Oct 6
|
||
doi: 10.1055/s-0035-1563574.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26444403" target="_blank">26444403</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22993284">OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sitarz KS,
|
||
Almind GJ,
|
||
Horvath R,
|
||
Czermin B,
|
||
Grønskov K,
|
||
Pyle A,
|
||
Taylor RW,
|
||
Larsen M,
|
||
Chinnery PF,
|
||
Yu-Wai-Man P</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2012 Oct 2;79(14):1515-7.
|
||
Epub 2012 Sep 19
|
||
doi: 10.1212/WNL.0b013e31826d5f60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22993284" target="_blank">22993284</a><a href="/pmc/articles/PMC3525295" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15534600">Hereditary optic neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newman NJ,
|
||
Biousse V</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2004 Nov;18(11):1144-60.
|
||
doi: 10.1038/sj.eye.6701591.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15534600" target="_blank">15534600</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20optic%20atrophy%20classic%20form%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 (139)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37974363">OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong DCS,
|
||
Harvey JP,
|
||
Jurkute N,
|
||
Thomasy SM,
|
||
Moosajee M,
|
||
Yu-Wai-Man P,
|
||
Gilhooley MJ</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2023 Dec 1;43(4):464-474.
|
||
Epub 2023 Apr 19
|
||
doi: 10.1097/WNO.0000000000001830.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37974363" target="_blank">37974363</a><a href="/pmc/articles/PMC10645107" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36813316">Mitochondrial optic neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carelli V,
|
||
La Morgia C,
|
||
Yu-Wai-Man P</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;194:23-42.
|
||
doi: 10.1016/B978-0-12-821751-1.00010-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36813316" target="_blank">36813316</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36764396">Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Muijnck C,
|
||
Brink JBT,
|
||
Bergen AA,
|
||
Boon CJF,
|
||
van Genderen MM</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2023 Jul-Aug;68(4):641-654.
|
||
Epub 2023 Feb 9
|
||
doi: 10.1016/j.survophthal.2023.01.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36764396" target="_blank">36764396</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35328914">Wolfram Syndrome 1: From Genetics to Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rigoli L,
|
||
Caruso V,
|
||
Salzano G,
|
||
Lombardo F</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Mar 9;19(6)
|
||
doi: 10.3390/ijerph19063225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35328914" target="_blank">35328914</a><a href="/pmc/articles/PMC8949990" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34629404">Dominant Optic Atrophy: How to Determine the Pathogenicity of Novel Variants?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zehden JA,
|
||
Raviskanthan S,
|
||
Mortensen PW,
|
||
Ferré M,
|
||
Reynier P,
|
||
Milea D,
|
||
Lee AG</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2022 Jun 1;42(2):149-153.
|
||
Epub 2021 Sep 30
|
||
doi: 10.1097/WNO.0000000000001352.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34629404" target="_blank">34629404</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20optic%20atrophy%20classic%20form%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 (218)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38916953">Targeting DRP1 with Mdivi-1 to correct mitochondrial abnormalities in ADOA+ syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin Y,
|
||
Wang D,
|
||
Li B,
|
||
Wang J,
|
||
Xu L,
|
||
Sun X,
|
||
Ji K,
|
||
Yan C,
|
||
Liu F,
|
||
Zhao Y</span><br />
|
||
<span class="medgenPMjournal">JCI Insight</span>
|
||
2024 Jun 25;9(15)
|
||
doi: 10.1172/jci.insight.180582.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38916953" target="_blank">38916953</a><a href="/pmc/articles/PMC11383607" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32243103">Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romagnoli M,
|
||
La Morgia C,
|
||
Carbonelli M,
|
||
Di Vito L,
|
||
Amore G,
|
||
Zenesini C,
|
||
Cascavilla ML,
|
||
Barboni P,
|
||
Carelli V</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2020 Apr;7(4):590-594.
|
||
Epub 2020 Apr 3
|
||
doi: 10.1002/acn3.51026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32243103" target="_blank">32243103</a><a href="/pmc/articles/PMC7187718" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31337416">Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pallotta MT,
|
||
Tascini G,
|
||
Crispoldi R,
|
||
Orabona C,
|
||
Mondanelli G,
|
||
Grohmann U,
|
||
Esposito S</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2019 Jul 23;17(1):238.
|
||
doi: 10.1186/s12967-019-1993-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31337416" target="_blank">31337416</a><a href="/pmc/articles/PMC6651977" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29382469">Eight human OPA1 isoforms, long and short: What are they for?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Del Dotto V,
|
||
Fogazza M,
|
||
Carelli V,
|
||
Rugolo M,
|
||
Zanna C</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta Bioenerg</span>
|
||
2018 Apr;1859(4):263-269.
|
||
Epub 2018 Jan 31
|
||
doi: 10.1016/j.bbabio.2018.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29382469" target="_blank">29382469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27288727">Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lopez Sanchez MI,
|
||
Crowston JG,
|
||
Mackey DA,
|
||
Trounce IA</span><br />
|
||
<span class="medgenPMjournal">Pharmacol Ther</span>
|
||
2016 Sep;165:132-52.
|
||
Epub 2016 Jun 8
|
||
doi: 10.1016/j.pharmthera.2016.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27288727" target="_blank">27288727</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20optic%20atrophy%20classic%20form%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 (19)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37041640">WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lim HD,
|
||
Lee SM,
|
||
Yun YJ,
|
||
Lee DH,
|
||
Lee JH,
|
||
Oh SH,
|
||
Lee SY</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2023 Apr 11;16(1):79.
|
||
doi: 10.1186/s12920-023-01506-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37041640" target="_blank">37041640</a><a href="/pmc/articles/PMC10088283" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36422516">Current treatment options for treating OPA1-mutant dominant optic atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferro Desideri L,
|
||
Traverso CE,
|
||
Iester M</span><br />
|
||
<span class="medgenPMjournal">Drugs Today (Barc)</span>
|
||
2022 Nov;58(11):547-552.
|
||
doi: 10.1358/dot.2022.58.11.3448291.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36422516" target="_blank">36422516</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35328914">Wolfram Syndrome 1: From Genetics to Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rigoli L,
|
||
Caruso V,
|
||
Salzano G,
|
||
Lombardo F</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2022 Mar 9;19(6)
|
||
doi: 10.3390/ijerph19063225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35328914" target="_blank">35328914</a><a href="/pmc/articles/PMC8949990" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31337416">Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pallotta MT,
|
||
Tascini G,
|
||
Crispoldi R,
|
||
Orabona C,
|
||
Mondanelli G,
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Grohmann U,
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2019 Jul 23;17(1):238.
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doi: 10.1186/s12967-019-1993-1.
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22776096">Dominant optic atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenaers G,
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Hamel C,
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Delettre C,
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<span class="bold">PMID: </span><a href="/pubmed/22776096" target="_blank">22776096</a><a href="/pmc/articles/PMC3526509" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20optic%20atrophy%20classic%20form%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 (63)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38280232">OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Zanfardino P,
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Amati A,
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Doccini S,
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Cox SN,
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Tullo A,
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Longo G,
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D'Erchia A,
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Picardi E,
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Nesti C,
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Santorelli FM,
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Petruzzella V</span><br />
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<span class="medgenPMjournal">Hum Mol Genet</span>
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2024 Apr 18;33(9):768-786.
|
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doi: 10.1093/hmg/ddae008.
|
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<span class="bold">PMID: </span><a href="/pubmed/38280232" target="_blank">38280232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37239332">Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Paprocka J,
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Jezela-Stanek A,
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Śmigiel R,
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Walczak A,
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Mierzewska H,
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Kutkowska-Kaźmierczak A,
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Płoski R,
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Emich-Widera E,
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Steinborn B</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
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2023 Apr 25;14(5)
|
||
doi: 10.3390/genes14050972.
|
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<span class="bold">PMID: </span><a href="/pubmed/37239332" target="_blank">37239332</a><a href="/pmc/articles/PMC10217861" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36262091">Ophthalmic manifestations of MEPAN syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta PR,
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||
Gospe SM , III</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Oct;44(5):469-474.
|
||
Epub 2022 Oct 19
|
||
doi: 10.1080/13816810.2022.2135112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36262091" target="_blank">36262091</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25700560">SIRT5 regulation of ammonia-induced autophagy and mitophagy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polletta L,
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Vernucci E,
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Carnevale I,
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Arcangeli T,
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Rotili D,
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Palmerio S,
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Steegborn C,
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Nowak T,
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Schutkowski M,
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Pellegrini L,
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Sansone L,
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Villanova L,
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Runci A,
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Pucci B,
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Morgante E,
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Fini M,
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Mai A,
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<span class="medgenPMjournal">Autophagy</span>
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2015;11(2):253-70.
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doi: 10.1080/15548627.2015.1009778.
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<span class="bold">PMID: </span><a href="/pubmed/25700560" target="_blank">25700560</a><a href="/pmc/articles/PMC4502726" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15534600">Hereditary optic neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newman NJ,
|
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Biousse V</span><br />
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<span class="medgenPMjournal">Eye (Lond)</span>
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2004 Nov;18(11):1144-60.
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doi: 10.1038/sj.eye.6701591.
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<span class="bold">PMID: </span><a href="/pubmed/15534600" target="_blank">15534600</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20optic%20atrophy%20classic%20form%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 (131)</a></div></div>
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||
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|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39766826">Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Esposito F,
|
||
Zeppieri M,
|
||
Cordeiro MF,
|
||
Capobianco M,
|
||
Avitabile A,
|
||
Gagliano G,
|
||
Musa M,
|
||
Barboni P,
|
||
Gagliano C</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Nov 29;15(12)
|
||
doi: 10.3390/genes15121559.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39766826" target="_blank">39766826</a><a href="/pmc/articles/PMC11675667" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37041640">WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lim HD,
|
||
Lee SM,
|
||
Yun YJ,
|
||
Lee DH,
|
||
Lee JH,
|
||
Oh SH,
|
||
Lee SY</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2023 Apr 11;16(1):79.
|
||
doi: 10.1186/s12920-023-01506-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37041640" target="_blank">37041640</a><a href="/pmc/articles/PMC10088283" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36764396">Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Muijnck C,
|
||
Brink JBT,
|
||
Bergen AA,
|
||
Boon CJF,
|
||
van Genderen MM</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2023 Jul-Aug;68(4):641-654.
|
||
Epub 2023 Feb 9
|
||
doi: 10.1016/j.survophthal.2023.01.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36764396" target="_blank">36764396</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34629400">Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harvey JP,
|
||
Sladen PE,
|
||
Yu-Wai-Man P,
|
||
Cheetham ME</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2022 Mar 1;42(1):35-44.
|
||
Epub 2021 Sep 30
|
||
doi: 10.1097/WNO.0000000000001375.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34629400" target="_blank">34629400</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30165240">Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ham M,
|
||
Han J,
|
||
Osann K,
|
||
Smith M,
|
||
Kimonis V</span><br />
|
||
<span class="medgenPMjournal">Mitochondrion</span>
|
||
2019 May;46:262-269.
|
||
Epub 2018 Aug 27
|
||
doi: 10.1016/j.mito.2018.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30165240" target="_blank">30165240</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20dominant%20optic%20atrophy%20classic%20form%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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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0338508%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (40)</a></li>
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<li><a href="/gtr/tests?term=C0338508%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
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<li><a href="/gtr/tests?term=C0338508%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (50)</a></li>
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<li><a href="/gtr/tests?term=C0338508%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
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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=(autosomal%20dominant%20optic%20atrophy%20classic%20form)%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(%22Autosomal%20dominant%20optic%20atrophy%20classic%20form%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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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=605290" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4976[geneid]" target="_blank">View OPA1 variations in ClinVar</a></li><li><a href="/nuccore/225007551" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=165500" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Optic+atrophy+1/5380" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/optic_atrophy_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Autosomal%20dominant%20optic%20atrophy%20classic%20form" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/optic-atrophy-type-1" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9890/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=137902" ref="log$=recordlinks">MeSH</a>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb4813f4a390645e053812">C0338508[conceptid] <span class="number">(1)</span></a>
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