<?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>1028-4818</journal-id>
<journal-title><![CDATA[Multimed]]></journal-title>
<abbrev-journal-title><![CDATA[Multimed]]></abbrev-journal-title>
<issn>1028-4818</issn>
<publisher>
<publisher-name><![CDATA[Centro Provincial de Información de Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1028-48182019000601380</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Enfermedad de Norrie. Presentación de casos]]></article-title>
<article-title xml:lang="en"><![CDATA[Norrie's disease Case Presentation]]></article-title>
<article-title xml:lang="pt"><![CDATA[Doença de Norrie Apresentação de Caso]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cuadrado Frías]]></surname>
<given-names><![CDATA[Gladys Mailenys]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Méndez Peláez]]></surname>
<given-names><![CDATA[Alianna]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Reyes Maceo]]></surname>
<given-names><![CDATA[Zoila Maria]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Ciencias Médicas de Granma Centro Médico Ambulatorio del Hospital Carlos Manuel de Céspedes ]]></institution>
<addr-line><![CDATA[Bayamo Granma]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2019</year>
</pub-date>
<volume>23</volume>
<numero>6</numero>
<fpage>1380</fpage>
<lpage>1394</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1028-48182019000601380&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1028-48182019000601380&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1028-48182019000601380&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  la ceguera tiene consecuencias importantes sobre el desarrollo psicomotor, sobre todo si esta se presenta desde el nacimiento. Si además aparece una discapacidad intelectual y auditiva, será más difícil llevar a cabo determinados procesos de aprendizaje, desplazamiento, comunicación y autonomía en actividades de la vida diaria. Este es el caso de la enfermedad de Norrie, rara enfermedad genética ligada al cromosoma X. En Cuba, en el municipio Río Cauto, provincia Granma, se estudió la mayor familia con esta enfermedad en el mundo, conocida desde 1991, con 380 miembros. Los ojos resultan ser el órgano más afectado, con evolución casi siempre a la ceguera.  Presentación de caso:  se presentan tres casos con afectación ocular: queratopatía en banda, desprendimiento de retina, hipotonía ocular, dos de ellos ciegos desde el nacimiento que evolucionaron a la ptisis bulbi.  Discusión:  los hallazgos clínicos generales y oftalmológicos de los casos presentados coinciden con los descritos en la enfermedad de Norrie por diferentes autores. Los tres casos se rehabilitaron psicológicamente, dos se rehabilitaron totalmente con orientación, movilidad y prótesis auditivas y uno se mantiene en rehabilitación; se utilizó en los tres casos el lenguaje de señas táctil mano con mano.  Conclusiones:  la reeducación en actividades de la vida diaria, adaptada a las personas con estas discapacidades, les permite adquirir una mayor autonomía individual, social y profesional, elevar su calidad de vida e insertarlos activamente en la sociedad.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  blindness has important consequences on psychomotor development, especially if it occurs from birth. If an intellectual and auditory disability also appears, it will be more difficult to carry out certain processes of learning, displacement, communication and autonomy in activities of daily living. This is the case of Norrie's disease, a rare genetic disease linked to the X chromosome. In Cuba, in the Río Cauto municipality, Granma province, the largest family with this disease in the world, known since 1991, with 380 members was studied. The eyes turn out to be the most affected organ, with evolution almost always to blindness.  Case presentation:  there are three cases with ocular involvement: band keratopathy, retinal detachment, ocular hypotonia, two of them blind from birth that evolved into the bulbi pptisis.  Discussion:  the general and ophthalmological clinical findings of the cases presented coincide with those described in Norrie's disease by different authors. The three cases were rehabilitated psychologically, two were totally rehabilitated with orientation, mobility and hearing aids and one is kept in rehabilitation; hand-to-hand touch sign language was used in all three cases.  Conclusions:  reeducation in activities of daily living, adapted to people with these disabilities, allows them to acquire greater individual, social and professional autonomy, raise their quality of life and actively insert them into society.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[RESUMO  Introdução:  a cegueira tem consequências importantes no desenvolvimento psicomotor, principalmente se ocorrer desde o nascimento. Se uma deficiência intelectual e auditiva também aparecer, será mais difícil realizar certos processos de aprendizado, deslocamento, comunicação e autonomia nas atividades da vida diária. É o caso da doença de Norrie, uma doença genética rara ligada ao cromossomo X. Em Cuba, no município de Río Cauto, província de Granma, foi estudada a maior família com esta doença no mundo, conhecida desde 1991, com 380 membros. Os olhos acabam sendo o órgão mais afetado, com evolução quase sempre até a cegueira.  Apresentação do caso:  há três casos com comprometimento ocular: ceratopatia em banda, descolamento de retina, hipotonia ocular, dois deles cegos desde o nascimento que evoluíram para a estise bulbosa.  Discussão:  os achados clínicos gerais e oftalmológicos dos casos apresentados coincidem com os descritos na doença de Norrie por diferentes autores. Os três casos foram reabilitados psicologicamente, dois foram totalmente reabilitados com orientação, mobilidade e aparelhos auditivos e um é mantido em reabilitação; a linguagem de sinais de toque corpo a corpo foi usada nos três casos.  Conclusões:  a reeducação nas atividades da vida cotidiana, adaptada às pessoas com deficiência, permite adquirir maior autonomia individual, social e profissional, elevar sua qualidade de vida e inseri-las ativamente na sociedade.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Ceguera]]></kwd>
<kwd lng="es"><![CDATA[Personas con discapacidad]]></kwd>
<kwd lng="en"><![CDATA[Blindness]]></kwd>
<kwd lng="en"><![CDATA[Disabled persons]]></kwd>
<kwd lng="pt"><![CDATA[Cegueira]]></kwd>
<kwd lng="pt"><![CDATA[Pessoas com deficiência]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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