Article
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.
Nature genetics - 1 Oct 2000
Akama T O, Nishida K, Nakayama J, Watanabe H, Ozaki K, Nakamura T, Dota A, Kawasaki S, Inoue Y, Maeda N, Yamamoto S, Fujiwara T, Thonar E J, Shimomura Y, Kinoshita S, Tanigami A, Fukuda M N
Abstract excerpt
Macular corneal dystrophy (MCD; MIM 217800) is an autosomal recessive hereditary disease in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into two subtypes, type I and type II, defined by the respective absence and presence of sulphated keratan sulphate in the patient serum, although both types have...
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