brittle cornea syndrome type 1

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brittle cornea syndrome type 1

A hereditary condition (OMIM:229200) characterised by extreme corneal thinning leading to corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and joint hypermobility. It is clinically similar to, but much less severe than, Ehlers-Danlos syndrome ocular type 6.

Molecular pathology
Caused by defects in ZNF469, which encodes zinc finger protein 469, a putative regulator of collagen synthesis and organisation.