Blefarofimose begrijpen: oorzaken, symptomen en behandelingsopties
Blefarofimose is een zeldzame genetische aandoening die de oogleden aantast en een reeks symptomen kan veroorzaken, waaronder hangende oogleden, problemen met het volledig sluiten van de ogen en problemen met het gezichtsvermogen. Het wordt veroorzaakt door mutaties in het FOXC1-gen en wordt meestal overgeërfd volgens een autosomaal dominant patroon. Behandelingsopties voor blefarofimose kunnen bestaan uit een operatie om de positie van de oogleden, een bril of contactlenzen te corrigeren om het gezichtsvermogen te verbeteren, en andere ondersteunende maatregelen om eventuele daarmee samenhangende symptomen aan te pakken.
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