brittle cornea syndrome(redirected from mesodermal dysgenesis of the cornea and sclera)
brittle cornea syndromeA 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.
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.
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