brittle cornea syndrome

brittle cornea syndrome

A rare autosomal recessive MIM 229200 condition affecting Tunisian Jews, which is characterised by red hair (which is now thought to be a chance occurrence), blue sclera, scoliosis, reduced bone mineral density and brittle corneas with spontaneous corneal perforation, accompanied by retinal detachment and secondary glaucoma.
 
Molecular pathology
BCS is caused by a novel missense mutation of ZNF469, a gene on chromosome 16q24 that encodes a zinc-finger protein, which may function as a transcription factor or extra-nuclear regulator for synthesising or organising collagen fibres.
References in periodicals archive ?
Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation.