<?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>0120-4157</journal-id>
<journal-title><![CDATA[Biomédica]]></journal-title>
<abbrev-journal-title><![CDATA[Biomed.]]></abbrev-journal-title>
<issn>0120-4157</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-41572021000300388</article-id>
<article-id pub-id-type="doi">10.7705/biomedica.5604</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Definición diagnóstica en una familia con malattia leventinese en Colombia]]></article-title>
<article-title xml:lang="en"><![CDATA[Diagnostic definition of malattia leventinese in a family from Colombia]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gelvez]]></surname>
<given-names><![CDATA[Nancy]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hurtado-Villa]]></surname>
<given-names><![CDATA[Paula]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Flórez]]></surname>
<given-names><![CDATA[Silvia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Brieke]]></surname>
<given-names><![CDATA[Anne Charlotte]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rodríguez]]></surname>
<given-names><![CDATA[Francisco]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bertolotto]]></surname>
<given-names><![CDATA[Ana María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Tamayo]]></surname>
<given-names><![CDATA[Martha L.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Pontificia Universidad Javeriana Instituto de Genética Humana ]]></institution>
<addr-line><![CDATA[Bogotá D.C]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Pontificia Universidad Javeriana Facultad de Ciencias de la Salud ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Independiente  ]]></institution>
<addr-line><![CDATA[Cúcuta ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad del Rosario Fundación Oftalmológica Nacional Escuela de Medicina y Ciencias de la Salud]]></institution>
<addr-line><![CDATA[Bogotá D.C]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Pontificia Universidad Javeriana Facultad de Medicina Departamento de Pediatría]]></institution>
<addr-line><![CDATA[Bogotá D.C]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Hospital Universitario San Ignacio  ]]></institution>
<addr-line><![CDATA[Bogotá D.C]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2021</year>
</pub-date>
<volume>41</volume>
<numero>3</numero>
<fpage>388</fpage>
<lpage>395</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-41572021000300388&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-41572021000300388&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-41572021000300388&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La malattia leventinese es una enfermedad hereditaria autosómica dominante, cuyos síntomas se inician entre la segunda y la cuarta décadas de la vida. Se caracteriza por la aparición de drusas localizadas entre el epitelio pigmentario de la retina y la membrana de Bruch; suele reducir la visión drásticamente y progresar a ceguera. La variante patogénica p.Arg345Trp en el gen EFEMP1 se ha asociado con esta enfermedad. Se presenta aquí la caracterización clínica y molecular de una familia con malattia leventinese mediante un manejo integral que involucró a oftalmólogos, pediatras y genetistas, lo que es de gran importancia, ya que el fenotipo de esta enfermedad suele confundirse con la degeneración macular. A todos los individuos de la familia se les hizo la evaluación oftalmológica con imágenes diagnósticas de retina y extracción de ADN a partir de una muestra de sangre periférica. Todos los exones del gen EFEMP1 se amplificaron y secuenciaron. La variante patogénica p.Arg345Trp se identificó en los individuos afectados. Este es el primer reporte de malattia leventinese en una familia con la variante patogénica p.Arg345Trp en Colombia. El diagnóstico molecular de las distrofias retinianas es fundamental para diferenciar este tipo de enfermedades.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch membrane. It is usually associated with low vision and may progress to blindness. The pathogenic variant p.Arg345Trp in the EFEMP1 gene has been associated with this disease. We characterized clinically and molecularly a family with malattia leventinese using a comprehensive approach that involved ophthalmologists, pediatricians, and geneticists. This approach is of great importance since the phenotype of this disease is often confused with macular degeneration. All family members underwent ophthalmological evaluation and DNA extraction from a peripheral blood sample. All exons of the EFEMP1 gene were amplified and sequenced. The pathogenic variant p.Arg345Trp was identified in affected individuals in this family. This is the first report of malattia leventinese in a family with the p.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[distrofias retinianas]]></kwd>
<kwd lng="es"><![CDATA[epitelio pigmentario de la retina]]></kwd>
<kwd lng="es"><![CDATA[degeneración macular]]></kwd>
<kwd lng="es"><![CDATA[retina]]></kwd>
<kwd lng="en"><![CDATA[Retinal dystrophies]]></kwd>
<kwd lng="en"><![CDATA[retinal pigment epithelium]]></kwd>
<kwd lng="en"><![CDATA[macular degeneration]]></kwd>
<kwd lng="en"><![CDATA[retina]]></kwd>
</kwd-group>
</article-meta>
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