GTR Home > Conditions/Phenotypes > Macular corneal dystrophy Type I


Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000). [from OMIM]

Available tests

13 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: MCDC1, CHST6
    Summary: carbohydrate sulfotransferase 6

Clinical features


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