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<meta name="keywords" content="C4013102, finding, lca18, leber congenital amaurosis 18, 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="Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=861539
|
||
ConceptID=C4013102
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Leber congenital amaurosis 18<span class="h1sub">(LCA18)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>861539</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:">C4013102</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>LCA18</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/179605" target="_blank">179605</a>; <a href="https://omim.org/entry/608133" target="_blank">608133</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">Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.<br /><br />Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.<br /><br />A specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.<br /><br />In very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.<br /><br />At least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_105">
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<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/33684911">Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenz B,
|
||
Tavares J,
|
||
van den Born LI,
|
||
Marques JP,
|
||
Scholl HPN;
|
||
EVICR.net Group</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Res</span>
|
||
2021;64(5):740-753.
|
||
Epub 2021 Mar 8
|
||
doi: 10.1159/000515688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33684911" target="_blank">33684911</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23946133">Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mackay DS,
|
||
Borman AD,
|
||
Sui R,
|
||
van den Born LI,
|
||
Berson EL,
|
||
Ocaka LA,
|
||
Davidson AE,
|
||
Heckenlively JR,
|
||
Branham K,
|
||
Ren H,
|
||
Lopez I,
|
||
Maria M,
|
||
Azam M,
|
||
Henkes A,
|
||
Blokland E,
|
||
Qamar R,
|
||
Webster AR,
|
||
Cremers FPM,
|
||
Moore AT,
|
||
Koenekoop RK;
|
||
[LCA5 Study Group (see acknowledgements for Universities),
|
||
Andreasson S,
|
||
de Baere E,
|
||
Bennett J,
|
||
Chader GJ,
|
||
Berger W,
|
||
Golovleva I,
|
||
Greenberg J,
|
||
den Hollander AI,
|
||
Klaver CCW,
|
||
Klevering BJ,
|
||
Lorenz B,
|
||
Preising MN,
|
||
Ramsear R,
|
||
Roberts L,
|
||
Roepman R,
|
||
Rohrschneider K,
|
||
Wissinger B</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2013 Nov;34(11):1537-1546.
|
||
Epub 2013 Sep 17
|
||
doi: 10.1002/humu.22398.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23946133" target="_blank">23946133</a><a href="/pmc/articles/PMC4337959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8892367">Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casteels I,
|
||
Spileers W,
|
||
Demaerel P,
|
||
Casaer P,
|
||
De Cock P,
|
||
Dralands L,
|
||
Missotten L</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1996 Aug;27(4):189-93.
|
||
doi: 10.1055/s-2007-973785.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8892367" target="_blank">8892367</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(leber%20congenital%20amaurosis%2018)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38880373">Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q,
|
||
Sun J,
|
||
Liu Z,
|
||
Wang H,
|
||
Zhou H,
|
||
Liu W,
|
||
Jia H,
|
||
Li N,
|
||
Li T,
|
||
Wang F,
|
||
Sun X</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Oct;266:235-247.
|
||
Epub 2024 Jun 15
|
||
doi: 10.1016/j.ajo.2024.06.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38880373" target="_blank">38880373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38768745">Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daich Varela M,
|
||
Jeste M,
|
||
de Guimaraes TAC,
|
||
Mahroo OA,
|
||
Arno G,
|
||
Webster AR,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Oct;266:255-263.
|
||
Epub 2024 May 19
|
||
doi: 10.1016/j.ajo.2024.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38768745" target="_blank">38768745</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37762234">Foveal Hypoplasia in CRB1-Related Retinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez-Martinez AC,
|
||
Higgins BE,
|
||
Tailor-Hamblin V,
|
||
Malka S,
|
||
Cheloni R,
|
||
Collins AM,
|
||
Bladen J,
|
||
Henderson R,
|
||
Moosajee M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Sep 11;24(18)
|
||
doi: 10.3390/ijms241813932.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37762234" target="_blank">37762234</a><a href="/pmc/articles/PMC10531165" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33838313">Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gange WS,
|
||
Sisk RA,
|
||
Besirli CG,
|
||
Lee TC,
|
||
Havunjian M,
|
||
Schwartz H,
|
||
Borchert M,
|
||
Sengillo JD,
|
||
Mendoza C,
|
||
Berrocal AM,
|
||
Nagiel A</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Jan;6(1):58-64.
|
||
Epub 2021 Apr 8
|
||
doi: 10.1016/j.oret.2021.03.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33838313" target="_blank">33838313</a><a href="/pmc/articles/PMC8497635" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22085795">The susceptibility of the retina to photochemical damage from visible light.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hunter JJ,
|
||
Morgan JI,
|
||
Merigan WH,
|
||
Sliney DH,
|
||
Sparrow JR,
|
||
Williams DR</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2012 Jan;31(1):28-42.
|
||
Epub 2011 Nov 10
|
||
doi: 10.1016/j.preteyeres.2011.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22085795" target="_blank">22085795</a><a href="/pmc/articles/PMC3242847" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20congenital%20amaurosis%2018%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 (30)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38880373">Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q,
|
||
Sun J,
|
||
Liu Z,
|
||
Wang H,
|
||
Zhou H,
|
||
Liu W,
|
||
Jia H,
|
||
Li N,
|
||
Li T,
|
||
Wang F,
|
||
Sun X</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Oct;266:235-247.
|
||
Epub 2024 Jun 15
|
||
doi: 10.1016/j.ajo.2024.06.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38880373" target="_blank">38880373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38768745">Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daich Varela M,
|
||
Jeste M,
|
||
de Guimaraes TAC,
|
||
Mahroo OA,
|
||
Arno G,
|
||
Webster AR,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Oct;266:255-263.
|
||
Epub 2024 May 19
|
||
doi: 10.1016/j.ajo.2024.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38768745" target="_blank">38768745</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37762059">Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malvasi M,
|
||
Casillo L,
|
||
Avogaro F,
|
||
Abbouda A,
|
||
Vingolo EM</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Sep 6;24(18)
|
||
doi: 10.3390/ijms241813756.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37762059" target="_blank">37762059</a><a href="/pmc/articles/PMC10531171" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33838313">Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gange WS,
|
||
Sisk RA,
|
||
Besirli CG,
|
||
Lee TC,
|
||
Havunjian M,
|
||
Schwartz H,
|
||
Borchert M,
|
||
Sengillo JD,
|
||
Mendoza C,
|
||
Berrocal AM,
|
||
Nagiel A</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Jan;6(1):58-64.
|
||
Epub 2021 Apr 8
|
||
doi: 10.1016/j.oret.2021.03.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33838313" target="_blank">33838313</a><a href="/pmc/articles/PMC8497635" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12615170">Leber's congenital amaurosis: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fazzi E,
|
||
Signorini SG,
|
||
Scelsa B,
|
||
Bova SM,
|
||
Lanzi G</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2003;7(1):13-22.
|
||
doi: 10.1016/s1090-3798(02)00135-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12615170" target="_blank">12615170</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20congenital%20amaurosis%2018%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 (47)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37660736">Classification and Growth Rate of Chorioretinal Atrophy after Voretigene Neparvovec-Rzyl for RPE65-Mediated Retinal Degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bommakanti N,
|
||
Young BK,
|
||
Sisk RA,
|
||
Berrocal AM,
|
||
Duncan JL,
|
||
Bakall B,
|
||
Mathias MT,
|
||
Ahmed I,
|
||
Chorfi S,
|
||
Comander J,
|
||
Nagiel A,
|
||
Besirli CG</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2024 Jan;8(1):42-48.
|
||
Epub 2023 Sep 3
|
||
doi: 10.1016/j.oret.2023.08.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37660736" target="_blank">37660736</a><a href="/pmc/articles/PMC11138130" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29932012">Choroideremia: molecular mechanisms and development of AAV gene therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patrício MI,
|
||
Barnard AR,
|
||
Xue K,
|
||
MacLaren RE</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Biol Ther</span>
|
||
2018 Jul;18(7):807-820.
|
||
Epub 2018 Jun 22
|
||
doi: 10.1080/14712598.2018.1484448.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29932012" target="_blank">29932012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29057663">Gene therapy for inherited retinal and optic nerve degenerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moore NA,
|
||
Morral N,
|
||
Ciulla TA,
|
||
Bracha P</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Biol Ther</span>
|
||
2018 Jan;18(1):37-49.
|
||
Epub 2017 Oct 23
|
||
doi: 10.1080/14712598.2018.1389886.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29057663" target="_blank">29057663</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28161916">The Pathway From Genes to Gene Therapy in Glaucoma: A Review of Possibilities for Using Genes as Glaucoma Drugs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borrás T</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
||
2017 Jan-Feb;6(1):80-93.
|
||
doi: 10.22608/APO.2016126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28161916" target="_blank">28161916</a><a href="/pmc/articles/PMC6005701" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22085795">The susceptibility of the retina to photochemical damage from visible light.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hunter JJ,
|
||
Morgan JI,
|
||
Merigan WH,
|
||
Sliney DH,
|
||
Sparrow JR,
|
||
Williams DR</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2012 Jan;31(1):28-42.
|
||
Epub 2011 Nov 10
|
||
doi: 10.1016/j.preteyeres.2011.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22085795" target="_blank">22085795</a><a href="/pmc/articles/PMC3242847" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20congenital%20amaurosis%2018%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 (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38461945">Characteristics of Eyes With CRB1-Associated EOSRD/LCA: Age-Related Changes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ayash J,
|
||
Woods RL,
|
||
Akula JD,
|
||
Rajabi F,
|
||
Alwattar BK,
|
||
Altschwager P,
|
||
Fulton AB</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Jul;263:168-178.
|
||
Epub 2024 Mar 10
|
||
doi: 10.1016/j.ajo.2024.02.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38461945" target="_blank">38461945</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37525225">A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murro V,
|
||
Banfi S,
|
||
Testa F,
|
||
Iarossi G,
|
||
Falsini B,
|
||
Sodi A,
|
||
Signorini S,
|
||
Iolascon A,
|
||
Russo R,
|
||
Mucciolo DP,
|
||
Caputo R,
|
||
Bacci GM,
|
||
Bargiacchi S,
|
||
Turco S,
|
||
Fortini S,
|
||
Simonelli F</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Jul 31;18(1):223.
|
||
doi: 10.1186/s13023-023-02798-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37525225" target="_blank">37525225</a><a href="/pmc/articles/PMC10388566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22509105">A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weisschuh N,
|
||
Wissinger B,
|
||
Gramer E</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2012;18:751-7.
|
||
Epub 2012 Mar 29
|
||
<span class="bold">PMID: </span><a href="/pubmed/22509105" target="_blank">22509105</a><a href="/pmc/articles/PMC3324353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9663233">Alström syndrome. Report of 22 cases and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russell-Eggitt IM,
|
||
Clayton PT,
|
||
Coffey R,
|
||
Kriss A,
|
||
Taylor DS,
|
||
Taylor JF</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
1998 Jul;105(7):1274-80.
|
||
doi: 10.1016/S0161-6420(98)97033-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9663233" target="_blank">9663233</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8892367">Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casteels I,
|
||
Spileers W,
|
||
Demaerel P,
|
||
Casaer P,
|
||
De Cock P,
|
||
Dralands L,
|
||
Missotten L</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1996 Aug;27(4):189-93.
|
||
doi: 10.1055/s-2007-973785.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8892367" target="_blank">8892367</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20congenital%20amaurosis%2018%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 (17)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38880373">Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Q,
|
||
Sun J,
|
||
Liu Z,
|
||
Wang H,
|
||
Zhou H,
|
||
Liu W,
|
||
Jia H,
|
||
Li N,
|
||
Li T,
|
||
Wang F,
|
||
Sun X</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Oct;266:235-247.
|
||
Epub 2024 Jun 15
|
||
doi: 10.1016/j.ajo.2024.06.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38880373" target="_blank">38880373</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37762234">Foveal Hypoplasia in CRB1-Related Retinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez-Martinez AC,
|
||
Higgins BE,
|
||
Tailor-Hamblin V,
|
||
Malka S,
|
||
Cheloni R,
|
||
Collins AM,
|
||
Bladen J,
|
||
Henderson R,
|
||
Moosajee M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Sep 11;24(18)
|
||
doi: 10.3390/ijms241813932.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37762234" target="_blank">37762234</a><a href="/pmc/articles/PMC10531165" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32641690">Genetic spectrum of retinal dystrophies in Tunisia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Habibi I,
|
||
Falfoul Y,
|
||
Turki A,
|
||
Hassairi A,
|
||
El Matri K,
|
||
Chebil A,
|
||
Schorderet DF,
|
||
El Matri L</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2020 Jul 8;10(1):11199.
|
||
doi: 10.1038/s41598-020-67792-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32641690" target="_blank">32641690</a><a href="/pmc/articles/PMC7343876" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22509105">A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weisschuh N,
|
||
Wissinger B,
|
||
Gramer E</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2012;18:751-7.
|
||
Epub 2012 Mar 29
|
||
<span class="bold">PMID: </span><a href="/pubmed/22509105" target="_blank">22509105</a><a href="/pmc/articles/PMC3324353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17512964">Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun W,
|
||
Gerth C,
|
||
Maeda A,
|
||
Lodowski DT,
|
||
Van Der Kraak L,
|
||
Saperstein DA,
|
||
Héon E,
|
||
Palczewski K</span><br />
|
||
<span class="medgenPMjournal">Vision Res</span>
|
||
2007 Jul;47(15):2055-66.
|
||
Epub 2007 May 21
|
||
doi: 10.1016/j.visres.2007.04.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17512964" target="_blank">17512964</a><a href="/pmc/articles/PMC2441904" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Leber%20congenital%20amaurosis%2018%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 (20)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<div class="rightCol mgCol">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4013102%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C4013102%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C4013102%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4013102%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Leber%20congenital%20amaurosis%2018" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(leber%20congenital%20amaurosis%2018)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/retinitis_pigmentosa_7" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Leber%20congenital%20amaurosis%2018" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
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<div class="portlet brieflink">
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<div class="portlet_head">
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<li>
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<a href="/pubmed/clinical?term=Leber%20congenital%20amaurosis%2018" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Leber%20congenital%20amaurosis%2018%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=861539" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4013102[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4013102[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=861539" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=861539" ref="log$=recordlinks">PMC Articles</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=861539" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cd3230a68b6b5afcf11da2">Leber congenital amaurosis 18</a>
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cd322ea68b6b5afcf11493">C3715164[trait identifier] AND "OMIM"[submitter] <span class="number">(9)</span></a>
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<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cd322df4a390645ec5cca4">C3280062[trait identifier] AND "OMIM"[submitter] <span class="number">(4)</span></a>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cd322cf4a390645ec5c4b2">C3151206[trait identifier] AND "OMIM"[submitter] <span class="number">(7)</span></a>
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<div class="tertiary">ClinVar</div>
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