UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
BackgroundMutations in a novel gene, UBIAD1, were recently found to cause the autosomal gorra we are not friends dominant eye disease Schnyder corneal dystrophy (SCD).SCD is characterized by an abnormal deposition of cholesterol and phospholipids in the cornea resulting in progressive corneal opacification and visual loss.We characterized lesions i