Наследственные глаукомы: клинико-генетическая характеристика

Обзор посвящен генетической природе врожденной глаукомы (ВГ). Приводятся клинико-генетические формы наследственных глауком и единичные нуклеотидные полиморфизмы, идентифицированные на основании полногеномного поиска ассоциаций (GWAS). Глаукома является гетерогенным заболеванием, пациенты с одним и тем же клиническим диагнозом часто могут иметь различные молекулярные причины заболевания. В патогенезе гидрофтальма доказана роль мутации гена CYP1B1, при ювенильной открытоугольной глаукоме — гена MYOC, при аниридии — гена PAX6, при аномалии/синдроме Аксенфельда – Ригера выявлены мутации генов PITX2, FOXC1, аномалия Петерса характеризуется мутациями в генах PAX6, CYP1B1, PITX2, FOXC1. Установлено, что пациенты с открытоугольной глаукомой в 4-43% случаев имеют семейный анамнез, обусловленный мутацией в генах MYOC, OPTN либо TBK1. Генетические исследования глаукомы являются первыми шагами для разработки нового поколения персонализированных методов лечения. В статье описаны ключевые особенности патогенеза различных генетических форм глаукомы и направления их возможной терапии. Однако генная терапия требует дальнейшего изучения как отдаленных последствий, так и долгосрочной эффективности. Молекулярно-генетическая диагностика глаукомы позволяет персонализировано проводить медико-генетическое консультирование семьи с учетом генетических рисков.

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