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Macular corneal dystrophy
Macular corneal dystrophy, also known as Fehr corneal dystrophy named for German ophthalmologist Oskar Fehr (1871-1959), is a rare pathological condition affecting the stroma of cornea. The first signs are usually noticed in the first decade of life, and progress afterwards, with opacities developing in the cornea and attacks of pain. The condition was first described by Arthur Groenouw in 1890.〔Groenouw A. Knötchenförmige Hornhauttrübungen (noduli corneae). Arch Augenheilkunde. 1890;21:281–289.〕〔(【引用サイトリンク】title=Macular corneal dystrophy )〕
== Genetics ==
Macular corneal dystrophy is inherited in autosomal recessive fashion and is thought to be caused by the lack or abnormal confuguration of keratan sulfate. Most cases of MCD are caused by mutations in CHST6 gene.
The gene CHST6 is a carbohydrate sulfotransferase encoding an enzyme designated corneal N-acetylglucosamine-6-sulfotransferase. In MCD type I, various mutations lead to inactivation of the enzyme, in MCD type II, inactivation is caused by large deletions and/or replacements in the gene.〔
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