Brittle cornea syndrome (BCS) is an autosomal recessive condition characterized by extreme corneal thinning leading to corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, high myopia, hearing defects and variable skeletal manifestations (e.g. joint hypermobility). Hernias, syndactylia, and mental retardation have also been observed in patients with BCS. BCS has been described in association with systemic mesodermal disorders such as osteogenesis imrperfecta, Marfan syndrome 2, and Ehlers-Danlos syndrome ocular type 6.
Brittle cornea syndrome type 1 is caused by mutations in the ZNF469 gene.