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Macular corneal dystrophy
Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.
ORPHA:98969Classification level: Disorder
Prevalence of this form of corneal dystrophy is not known. Cases of MCD have been identified worldwide. The condition is most prevalent in India, Saudi Arabia, Iceland and parts of the USA.
Whitish opacities in the cornea usually appear during adolescence but may develop in early infancy, or as late as the 6th decade of life. The non-transparent areas progressively merge as the entire corneal stroma becomes cloudy, causing severe visual impairment usually before the 5th decade. The bilateral corneal opacities progressively extend through the entire thickness of the central and peripheral corneal stroma. The corneal stroma is thinner than normal.
Most cases of MCD are caused by mutations in the CHST6 gene (16q22) encoding a protein involved in the production of keratan sulfate, which plays a role in the maintenance of corneal transparency. More than 125 mutations in this gene have been identified to date.
MCD is characterized histopathologically by intracytoplasmic accumulations of non-sulfated keratan sulfate within the keratocytes and corneal endothelium, sparing the corneal epithelium. MCD is classified as a corneal stromal dystrophy but also involves the Descemet membrane and the corneal endothelium.
The clinical features of MCD are similar to the corneal involvement found in the systemic mucopolysaccharidoses, such as mucopolysaccharidosis type IH and IS and the mucolipidoses (see these terms).
An autosomal recessive mode of inheritance has been shown in most cases, but some cases are of unknown etiology.
Management and treatment
Since the condition affects the entire corneal stroma, Descemet membrane and corneal endothelium, lamellar keratoplasty does not excise all damaged tissue. Corneal transplantation may therefore be needed. Vision can be restored by corneal grafting but opacities may recur in the graft after many years.