Особенности офтальмологического фенотипа при наследственных орфанных болезнях почек у детей. Часть 2
Ключевые слова:
Cornelia de Lange, Wilson, Goldenhar, Senior-Loken синдромАннотация
Во второй части нашего обзора проанализированы офтальмологические фенотипы при таких наследственных орфанных
синдромах, как Cornelia de Lange, Wilson, Goldenhar, Senior-Loken, Alstrom, Alagille, характеризующихся сочетанной патологией органа зрения и почек. При этих синдромах наблюдается тяжелый почечный фенотип с высоким риском прогрессирования в хроническую болезнь почек у пациентов в детском возрасте. Данные литературы свидетельствуют о гетерогенности офтальмологического фенотипа при указанных синдромах: диагностируется патология век, глазодвигательных мышц, фиброзной и сосудистой оболочек глазного яблока, сетчатки, зрительного нерва, хрусталика. Выявленная в раннем возрасте офтальмологическая патология нередко позволяет заподозрить наличие вышеупомянутых орфанных болезней, что способствует проведению молекулярно-генетического исследования с идентификацией конкретных мутаций генов.
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