Corneal macular dystrophy
Contributor: Jesse Vislisel, MD
Photographer: Cindy Montague, CRA
Corneal macular dystrophy is an autosomal recessive condition due to a mutation in the CHST6 gene which results in abnormal synthesis of keratan sulfate. The condition presents with mucopolysaccharide deposits appearing as gray-white opacities throughout all corneal stromal levels and extending into the periphery. There is diffuse clouding of the stroma between opacities.
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