Toward postnatal reversal of ocular congenital malformations.

[aniridia]

Aniridia is a panocular disorder that severely affects vision in early life . Most cases are caused by dominantly inherited mutations or deletions of the PAX 6 gene , which encodes a transcription factor that is essential for the development of the eye and the central nervous system . In this issue of the JCI , Gregory -Evans and colleagues demonstrate that early postnatal topical administration of an ataluren-based formulation reverses congenital malformations in the postnatal mouse eye , providing evidence that manipulation of PAX 6 after birth may lead to corrective tissue remodeling . These findings offer hope that ataluren administration could be a therapeutic paradigm applicable to some major congenital eye defects .

Diseases
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Diseases presenting "dominantly inherited mutations" symptom

aniridia

epidermolysis bullosa simplex

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