SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.

Abstract excerpt

SOX2 pathogenic variants, though rare, constitute the most commonly known genetic cause of clinical anophthalmia and microphthalmia. However, patients without major ocular malformation, but with multi-system developmental disorders, have been reported, suggesting that the range of clinical phenotypes is broader than previously appreciated. We detail two patients with bilateral structurally normal eyes along with...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Anophthalmos
• Share to Eye Abnormalities