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1032 lines
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<meta name="keywords" content="C0271092, disease or syndrome, progressive cone dystrophy (without rod involvement), 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=543168
|
||
ConceptID=C0271092
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Progressive cone dystrophy (without rod involvement)</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>543168</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:">C0271092</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td><span class="bold">SNOMED CT: </span></td>
|
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<td>Progressive cone dystrophy (without rod involvement) (267613004)</td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<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/34573333">Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Florea L,
|
||
Caba L,
|
||
Gorduza EV</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Aug 29;12(9)
|
||
doi: 10.3390/genes12091353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573333" target="_blank">34573333</a><a href="/pmc/articles/PMC8465569" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33261146">Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sung YC,
|
||
Yang CH,
|
||
Yang CM,
|
||
Lin CW,
|
||
Huang DS,
|
||
Huang YS,
|
||
Hu FR,
|
||
Chen PL,
|
||
Chen TC</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2020 Nov 27;11(12)
|
||
doi: 10.3390/genes11121421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33261146" target="_blank">33261146</a><a href="/pmc/articles/PMC7759801" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32435907">Laser treatment in retinitis pigmentosa-a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gawęcki M</span><br />
|
||
<span class="medgenPMjournal">Lasers Med Sci</span>
|
||
2020 Oct;35(8):1663-1670.
|
||
Epub 2020 May 20
|
||
doi: 10.1007/s10103-020-03036-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32435907" target="_blank">32435907</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(progressive%20cone%20dystrophy%20(without%20rod%20involvement))%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 (6)</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/38420906">Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han JH,
|
||
Rodenburg K,
|
||
Hayman T,
|
||
Calzetti G,
|
||
Kaminska K,
|
||
Quinodoz M,
|
||
Marra M,
|
||
Wallerich S,
|
||
Allon G,
|
||
Nagy ZZ,
|
||
Knézy K,
|
||
Li Y,
|
||
Chen R,
|
||
Barboni MTS,
|
||
Yang P,
|
||
Pennesi ME,
|
||
van den Born LI,
|
||
Varsányi B,
|
||
Szabó V,
|
||
Sharon D,
|
||
Banin E,
|
||
Ben-Yosef T,
|
||
Roosing S,
|
||
Koenekoop RK,
|
||
Rivolta C</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2024 Jun;26(6):101106.
|
||
Epub 2024 Feb 28
|
||
doi: 10.1016/j.gim.2024.101106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38420906" target="_blank">38420906</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31630094">Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu K,
|
||
Xie Y,
|
||
Sun T,
|
||
Zhang X,
|
||
Chen C,
|
||
Li Y</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
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<div class="portlet_content ln"><span class="medgenPMauthor">Verbakel SK,
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van Huet RAC,
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Boon CJF,
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den Hollander AI,
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Collin RWJ,
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Klaver CCW,
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Hoyng CB,
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Roepman R,
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<div class="nl"><a target="_blank" href="/pubmed/29555955">Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
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Eisenberger T,
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Gliem M,
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Müller PL,
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Herrmann P,
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Betz C,
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Zahnleiter D,
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Neuhaus C,
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Lenzner S,
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Holz FG,
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Mangold E,
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Bolz HJ,
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2018 Mar 19;8(1):4824.
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<span class="bold">PMID: </span><a href="/pubmed/29555955" target="_blank">29555955</a><a href="/pmc/articles/PMC5859282" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/17270046">Cone rod dystrophies.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hamel CP</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2007 Feb 1;2:7.
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<span class="bold">PMID: </span><a href="/pubmed/17270046" target="_blank">17270046</a><a href="/pmc/articles/PMC1808442" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20cone%20dystrophy%20(without%20rod%20involvement)%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 (70)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/29597005">Non-syndromic retinitis pigmentosa.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Verbakel SK,
|
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van Huet RAC,
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Boon CJF,
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den Hollander AI,
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Collin RWJ,
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Klaver CCW,
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Hoyng CB,
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Roepman R,
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Klevering BJ</span><br />
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<span class="medgenPMjournal">Prog Retin Eye Res</span>
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Epub 2018 Mar 27
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doi: 10.1016/j.preteyeres.2018.03.005.
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<span class="bold">PMID: </span><a href="/pubmed/29597005" target="_blank">29597005</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29555955">Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
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Eisenberger T,
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Gliem M,
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Müller PL,
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Herrmann P,
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Betz C,
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Zahnleiter D,
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Neuhaus C,
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Lenzner S,
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Holz FG,
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Mangold E,
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Bolz HJ,
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Charbel Issa P</span><br />
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<span class="medgenPMjournal">Sci Rep</span>
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2018 Mar 19;8(1):4824.
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doi: 10.1038/s41598-018-22096-0.
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<span class="bold">PMID: </span><a href="/pubmed/29555955" target="_blank">29555955</a><a href="/pmc/articles/PMC5859282" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/17270046">Cone rod dystrophies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hamel CP</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/17270046" target="_blank">17270046</a><a href="/pmc/articles/PMC1808442" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8909203">Occult macular dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Miyake Y,
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Horiguchi M,
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Tomita N,
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Kondo M,
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Tanikawa A,
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Takahashi H,
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Suzuki S,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20cone%20dystrophy%20(without%20rod%20involvement)%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 (138)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33509858">Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/33509858" target="_blank">33509858</a><a href="/pmc/articles/PMC7845671" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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McClements ME,
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<div class="nl"><a target="_blank" href="/pubmed/22644094">Gene therapy for Leber congenital amaurosis: advances and future directions.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hufnagel RB,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20cone%20dystrophy%20(without%20rod%20involvement)%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37806543">RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Georgiou M,
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Fujinami K,
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Robson AG,
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Fujinami-Yokokawa Y,
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Shakarchi AF,
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Ji MH,
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Uwaydat SH,
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Kim A,
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Kolesnikova M,
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Arno G,
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Pontikos N,
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Mahroo OA,
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Tsang SH,
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Webster AR,
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Michaelides M</span><br />
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Epub 2023 Oct 7
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doi: 10.1016/j.ajo.2023.09.025.
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<span class="bold">PMID: </span><a href="/pubmed/37806543" target="_blank">37806543</a><a href="/pmc/articles/PMC11139644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35627310">Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Malechka VV,
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Cukras CA,
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Chew EY,
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Sergeev YV,
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Blain D,
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Jeffrey BG,
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Ullah E,
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Hufnagel RB,
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Brooks BP,
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Huryn LA,
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Zein WM</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
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2022 May 22;13(5)
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doi: 10.3390/genes13050925.
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<span class="bold">PMID: </span><a href="/pubmed/35627310" target="_blank">35627310</a><a href="/pmc/articles/PMC9140808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/29555955">Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
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Eisenberger T,
|
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Gliem M,
|
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Müller PL,
|
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Herrmann P,
|
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Betz C,
|
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Zahnleiter D,
|
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Neuhaus C,
|
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Lenzner S,
|
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Holz FG,
|
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Mangold E,
|
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Bolz HJ,
|
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Charbel Issa P</span><br />
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<span class="medgenPMjournal">Sci Rep</span>
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2018 Mar 19;8(1):4824.
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doi: 10.1038/s41598-018-22096-0.
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<span class="bold">PMID: </span><a href="/pubmed/29555955" target="_blank">29555955</a><a href="/pmc/articles/PMC5859282" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/24024198">Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kamenarova K,
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Corton M,
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García-Sandoval B,
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Fernández-San Jose P,
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Panchev V,
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Avila-Fernández A,
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López-Molina MI,
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Chakarova C,
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Ayuso C,
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<span class="bold">PMID: </span><a href="/pubmed/24024198" target="_blank">24024198</a><a href="/pmc/articles/PMC3759255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17270046">Cone rod dystrophies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hamel CP</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2007 Feb 1;2:7.
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doi: 10.1186/1750-1172-2-7.
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<span class="bold">PMID: </span><a href="/pubmed/17270046" target="_blank">17270046</a><a href="/pmc/articles/PMC1808442" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20cone%20dystrophy%20(without%20rod%20involvement)%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 (41)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37806543">RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Georgiou M,
|
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Fujinami K,
|
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Robson AG,
|
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Fujinami-Yokokawa Y,
|
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Shakarchi AF,
|
||
Ji MH,
|
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Uwaydat SH,
|
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Kim A,
|
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Kolesnikova M,
|
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Arno G,
|
||
Pontikos N,
|
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Mahroo OA,
|
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Tsang SH,
|
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Webster AR,
|
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Michaelides M</span><br />
|
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<span class="medgenPMjournal">Am J Ophthalmol</span>
|
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2024 Feb;258:119-129.
|
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Epub 2023 Oct 7
|
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doi: 10.1016/j.ajo.2023.09.025.
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<span class="bold">PMID: </span><a href="/pubmed/37806543" target="_blank">37806543</a><a href="/pmc/articles/PMC11139644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35627310">Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malechka VV,
|
||
Cukras CA,
|
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Chew EY,
|
||
Sergeev YV,
|
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Blain D,
|
||
Jeffrey BG,
|
||
Ullah E,
|
||
Hufnagel RB,
|
||
Brooks BP,
|
||
Huryn LA,
|
||
Zein WM</span><br />
|
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<span class="medgenPMjournal">Genes (Basel)</span>
|
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2022 May 22;13(5)
|
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doi: 10.3390/genes13050925.
|
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<span class="bold">PMID: </span><a href="/pubmed/35627310" target="_blank">35627310</a><a href="/pmc/articles/PMC9140808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34203883">Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Smirnov V,
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Grunewald O,
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Muller J,
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Zeitz C,
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Obermaier CD,
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Devos A,
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Pelletier V,
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Bocquet B,
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Andrieu C,
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Bacquet JL,
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Dollfus H,
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Audo I,
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<div class="nl"><a target="_blank" href="/pubmed/28586915">Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.</a></div>
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El-Asrag ME,
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Ku CA,
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Holder GE,
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Arno G,
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|
||
Inglehearn CF,
|
||
Pennesi ME,
|
||
Moore AT,
|
||
Michaelides M,
|
||
Webster AR,
|
||
Ali M;
|
||
for NIHR BioResource-Rare Diseases and UK Inherited Retinal Disease Consortium</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2017 Jun 1;58(7):2906-2914.
|
||
doi: 10.1167/iovs.16-20608.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28586915" target="_blank">28586915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24024198">Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kamenarova K,
|
||
Corton M,
|
||
García-Sandoval B,
|
||
Fernández-San Jose P,
|
||
Panchev V,
|
||
Avila-Fernández A,
|
||
López-Molina MI,
|
||
Chakarova C,
|
||
Ayuso C,
|
||
Bhattacharya SS</span><br />
|
||
<span class="medgenPMjournal">Biomed Res Int</span>
|
||
2013;2013:517570.
|
||
Epub 2013 Aug 14
|
||
doi: 10.1155/2013/517570.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24024198" target="_blank">24024198</a><a href="/pmc/articles/PMC3759255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20cone%20dystrophy%20(without%20rod%20involvement)%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 (76)</a></div></div>
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