Genetic Test
The CHST6 gene encodes carbohydrate sulfotransferase, an enzyme involved in the synthesis of keratan sulfate in the cornea.
This enzyme plays a crucial role in keratan sulfate production, which is essential for maintaining corneal transparency.
Disease Description
Macular Corneal Dystrophy (MCD) is an autosomal recessive disorder characterized by progressive bilateral stromal clouding and vision loss.
Mutations in the CHST6 gene play a significant role in the development of MCD.
Deficiency of CHST6 causes abnormalities in the corneal stromal matrix, leading to progressive corneal opacification in affected individuals.
