Mutations in the gene lead to macular corneal dystrophy.

Macular corneal dystrophy: is a congenital disease resulted from malfunction of GlcNAc-6-sulfotransferase.

Macular corneal dystrophy is very common in Iceland and accounts for almost one-third of all corneal grafts performed there.

Macular corneal dystrophy is inherited in autosomal recessive fashion and is thought to be caused by the lack or abnormal confuguration of keratan sulfate.

Keratan sulfate produced by keratocytes is thought to help maintain optimal corneal hydration; genetic disruption of its synthesis leads to the macular corneal dystrophy.

Corneal stromal dystrophies - Macular corneal dystrophy is manifested by a progressive dense cloudiness of the entire corneal stroma that usually first appears during adolescence and eventually causing severe visual impairment.

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.