Autosomal dominant keratitis

Definition:

Autosomal dominant keratitis (ADK) is a very rare ocular disorder characterised by corneal opacification and vascularization and by foveal hypoplasia. ADK is associated with mutations in the PAX6 gene, that is essential for ocular morphogenesis.

References:

[1]. S Singh, et al. Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. Hum Mol Genet. 2001 Apr 15;10(9):911-8. [Content Brief]

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