University of Iowa Health Care

Ophthalmology and Visual Sciences

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.

Macular dystrophy, right eye

right eye (above), click image for higher resolution

Macular dystrophy, left eye

left eye, click image for higher resolution

OMIM #217800

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last updated: 9/17/2013
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