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<article article-type="research-article" dtd-version="1.3" 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" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id custom-type="elpub" pub-id-type="custom">medgen-1670</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>КРАТКИЕ СООБЩЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>BRIEF REPORT</subject></subj-group></article-categories><title-group><article-title>Особенности изменения рефракции у детей с врожденной аниридией</article-title><trans-title-group xml:lang="en"><trans-title>Features of changes in refraction in children with congenital aniridia</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Суханова</surname><given-names>Н. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Sukhanova</surname><given-names>N. V.</given-names></name></name-alternatives><email xlink:type="simple">natelasukhanova@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Катаргина</surname><given-names>Л. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Katargina</surname><given-names>L. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Васильева</surname><given-names>Т. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Vasilyeva</surname><given-names>T. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Марахонов</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Marakhonov</surname><given-names>A. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Зинченко</surname><given-names>Р. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Zinchenko</surname><given-names>R. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-4"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБУЗ Центральная клиническая больница Российской академии наук</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Central Clinical Hospital of the Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБУ «Национальный медицинский исследовательский центр глазных болезней имени Гельмгольца» МЗ РФ</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Helmholtz National Medical Research Center of Eye diseases</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Медико-генетический научный центр им. академика Н.П.Бочкова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Centre for Medical Genetics</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>Медико-генетический научный центр им. академика Н.П.Бочкова;  Национальный научно-исследовательский институт общественного здоровья имени Н.А. Семашко</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Centre for Medical Genetics</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>26</day><month>11</month><year>2020</year></pub-date><volume>19</volume><issue>8</issue><fpage>33</fpage><lpage>34</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Суханова Н.В., Катаргина Л.А., Васильева Т.А., Марахонов А.В., Зинченко Р.А., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Суханова Н.В., Катаргина Л.А., Васильева Т.А., Марахонов А.В., Зинченко Р.А.</copyright-holder><copyright-holder xml:lang="en">Sukhanova N.V., Katargina L.A., Vasilyeva T.A., Marakhonov A.V., Zinchenko R.A.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.medgen-journal.ru/jour/article/view/1670">https://www.medgen-journal.ru/jour/article/view/1670</self-uri><abstract><p>Снижение остроты зрения при врожденной аниридии связано с дефектом радужной оболочки и комплексом изменений разной степени выраженности других структур глаза (роговица, зрительный нерв, сетчатка и др.). Прогнозирование изменения рефракции - сложная проблема, так как имеются широкие вариации состояния структур и функций глаза с момента рождения и их динамики с возрастом, а также вариации, обусловленные как генетическими факторами, так и адекватностью лечебно-профилактических мероприятий, и приверженностью пациентов к коррекции. В представленном сообщении описано изменение рефракции у 57 детей от 2 месяцев до 7 лет жизни с РАХ6-ассоциированной врожденной аниридией.</p></abstract><trans-abstract xml:lang="en"><p>Reduced vision acuity in congenital aniridia is associated with a defect in the iris and a complex of changes of varying degrees of severity in other eye structures (cornea, optic nerve, retina, etc.). Prediction of changes in refraction is a complex problem, since there are wide variations in the state of the structures and functions of the eye from birth and their dynamics with age, as well as variations due to both genetic factors and the adequacy of treatment and prophylactic measures as well as patient’s adherence to therapy. The article describes the changes in refraction in children aged from 0 to 7 years old with PAX6-associated congenital aniridia.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>офтальмогенетика</kwd><kwd>врожденная аниридия</kwd><kwd>ген PAX6</kwd><kwd>рефракция</kwd></kwd-group><kwd-group xml:lang="en"><kwd>ophthalmogenetics</kwd><kwd>congenital aniridia</kwd><kwd>PAX6 gene</kwd><kwd>refraction</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
