Pengertian Blepharophimosis: Penyebab, Gejala, dan Pilihan Pengobatan

Blepharophimosis adalah kelainan genetik langka yang mempengaruhi kelopak mata dan dapat menyebabkan berbagai gejala, termasuk kelopak mata turun, kesulitan menutup mata sepenuhnya, dan masalah penglihatan. Hal ini disebabkan oleh mutasi pada gen FOXC1 dan biasanya diturunkan dalam pola autosomal dominan. Pilihan pengobatan untuk blepharophimosis mungkin termasuk pembedahan untuk memperbaiki posisi kelopak mata, kacamata atau lensa kontak untuk meningkatkan penglihatan, dan tindakan suportif lainnya untuk mengatasi gejala terkait.

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