Blefarofimoosin ymmärtäminen: syyt, oireet ja hoitovaihtoehdot

Blefarofimoosi on harvinainen geneettinen sairaus, joka vaikuttaa silmäluomiin ja voi aiheuttaa erilaisia oireita, kuten roikkuvat silmäluomet, vaikeuksia sulkea silmät kokonaan ja näköongelmia. Se johtuu FOXC1-geenin mutaatioista, ja se periytyy yleensä autosomaalisesti hallitsevassa kuviossa. Blefarophimoosin hoitovaihtoehtoihin voi kuulua leikkaus silmäluomien, lasien tai piilolinssien sijainnin korjaamiseksi vision parantamiseksi ja muille tukeville toimenpiteille, jotta voidaan puuttua niihin liittyviin oireisiin.

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