<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0121-0793</journal-id>
<journal-title><![CDATA[Iatreia]]></journal-title>
<abbrev-journal-title><![CDATA[Iatreia]]></abbrev-journal-title>
<issn>0121-0793</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Antioquia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0121-07932017000300297</article-id>
<article-id pub-id-type="doi">10.17533/udea.iatreia.v30n3a05</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Manifestaciones oculares de la enfermedad de Gaucher: presentación de un caso y revisión del tema]]></article-title>
<article-title xml:lang="en"><![CDATA[Ocular manifestations of Gaucher disease: case report and literature review]]></article-title>
<article-title xml:lang="pt"><![CDATA[Manifestações oculares da doença de Gaucher: apresentação de um caso e revisão do assunto]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mejía-Turizo]]></surname>
<given-names><![CDATA[Juan Carlos]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rojas-Múnera]]></surname>
<given-names><![CDATA[Sebastián]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Orrego-Betancur]]></surname>
<given-names><![CDATA[Sebastián Reinaldo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Franco-Echeverri]]></surname>
<given-names><![CDATA[Carlos Mario]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Arango-Simoni]]></surname>
<given-names><![CDATA[Kevin]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Pontificia Bolivariana  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Pontificia Bolivariana  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2017</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2017</year>
</pub-date>
<volume>30</volume>
<numero>3</numero>
<fpage>297</fpage>
<lpage>308</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0121-07932017000300297&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0121-07932017000300297&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0121-07932017000300297&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN Se informa el caso de una paciente con enfermedad de Gaucher (EG) tipo 3b con mutación homocigota en el gen GBA (c.1448T&gt;C p.L483P) (L444P). Se describen los hallazgos oculares característicos de esta mutación, que incluyen condensaciones vítreas y edema macular. Hasta donde sabemos, es el primer caso informado en Colombia con estas características. Se presenta además una revisión sobre las manifestaciones oculares de esta enfermedad.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[SUMMARY We report the case of a patient with Gaucher disease (GD) type 3b, with a homozygous GBA gene mutation (c.1448T &gt; C p.L483P) (L444P). Ocular findings characteristic of this mutation are described, including vitreous condensation and macular edema. To our knowledge this is the first case reported in Colombia with these characteristics. A review of the ocular manifestations of this disease is also presented.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[RESUMO Se informa o caso de uma paciente com doença de Gaucher (EG) tipo 3b com mutação homozigoto no gene GBA (c.1448T&gt;C p.L483P) (L444P). Se descrevem as descobertas oculares características desta mutação, que incluem condensações vítreas e edema macular. Até onde sabemos, é o primeiro caso informado na Colômbia com estas características. Se apresenta ademais uma revisão sobre as manifestações oculares desta doença.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Angiografía con Fluoresceína]]></kwd>
<kwd lng="es"><![CDATA[Enfermedad de Gaucher]]></kwd>
<kwd lng="es"><![CDATA[Enfermedades de la Retina]]></kwd>
<kwd lng="es"><![CDATA[Mutación]]></kwd>
<kwd lng="es"><![CDATA[Manifestaciones Oculares]]></kwd>
<kwd lng="es"><![CDATA[Oftalmología]]></kwd>
<kwd lng="es"><![CDATA[Tomografía de Coherencia Óptica]]></kwd>
<kwd lng="en"><![CDATA[Fluorescein Angiography]]></kwd>
<kwd lng="en"><![CDATA[Gaucher Disease]]></kwd>
<kwd lng="en"><![CDATA[Mutation]]></kwd>
<kwd lng="en"><![CDATA[Ocular Manifestation]]></kwd>
<kwd lng="en"><![CDATA[Ophthalmology]]></kwd>
<kwd lng="en"><![CDATA[Retinal Disease]]></kwd>
<kwd lng="en"><![CDATA[Tomography Optical Coherence]]></kwd>
<kwd lng="pt"><![CDATA[Angiografia com Fluoresceína]]></kwd>
<kwd lng="pt"><![CDATA[Doença de Gaucher]]></kwd>
<kwd lng="pt"><![CDATA[Doença da Retina]]></kwd>
<kwd lng="pt"><![CDATA[Mutação]]></kwd>
<kwd lng="pt"><![CDATA[Manifestações Oculares]]></kwd>
<kwd lng="pt"><![CDATA[Oftalmologia]]></kwd>
<kwd lng="pt"><![CDATA[Tomografia de Coerência Óptica]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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