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2018 | 5 | 1 | 16-20
Article title

Badania genetyczne w jaskrze – aktualne możliwości

Title variants
Genetic investigations in glaucoma – current possibilities
Languages of publication
Czynniki genetyczne odgrywają istotną rolę w etiopatogenezie jaskry. Gwałtowny postęp genetyki pozwolił na poznanie genów przyczynowych jednogenowych postaci jaskry (zwłaszcza jaskry wrodzonej) oraz genów predysponujących do wieloczynnikowych postaci jaskry (zwłaszcza jaskry pierwotnej otwartego kąta). Wykonywane obecnie u pacjentów z jaskrą badania molekularne obejmują geny CYP1B1, LTBP2 i TEK w pierwotnej jaskrze wrodzonej, geny PITX2 i FOXC1 w zespołach dysgenezji odcinka przedniego oraz geny MYOC i OPTN w jaskrze pierwotnej otwartego kąta. Badania te mają znaczenie nie tylko diagnostyczne, lecz także często rokownicze i terapeutyczne.
Genetic factors play an important role in etiopathogenesis of glaucoma. Rapid progress of genetics enabled us to recognize the causative genes in monogenic forms of glaucoma (especially congenital glaucoma) and predisposing genes in multifactorial forms of glaucoma (especially primary open angle glaucoma). Molecular investigations that are currently performed in patients with glaucoma involve CYP1B1, LTBP2 and TEK genes in primary congenital glaucoma, PITX2 and FOXC1 genes in anterior segment dysgenesis, and MYOC and OPTN genes in primary open angle glaucoma. These investigations are important not only for diagnostic, but also for prognostic and therapeutic reasons.
Physical description
  • Katedra i Zakład Genetyki Medycznej, Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu
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