pax6

What Conditions are Associated with PAX6 Mutations?


Aniridia: A condition characterized by the absence of the iris, leading to vision problems.
Peter's anomaly: A rare form of anterior segment dysgenesis affecting the cornea and lens of the eye.
Congenital cataracts: Clouding of the lens present at birth, which can impair vision.
Other ocular anomalies: Including optic nerve malformations and foveal hypoplasia.
Neurological issues: Some children may experience developmental delays or learning difficulties.

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