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Ophthalmology and Visual Sciences

Granular corneal dystrophy type 1

Granular corneal dystrophy type 1

Category(ies): Cornea, Genetics, Inherited Eye Disease
Contributor: Jesse Vislisel, MD
Photographer: Toni Venckus, CRA and Stefani Karakas, CRA

Granular corneal dystrophy type 1 is an autosomal dominant condition secondary to a mutation in the TGFβ1 gene. This dystrophy results in hyaline material deposition which appears early in life as discrete "bread crumb" or "rock candy" granular opacities in the anterior corneal stroma with intervening clear spaces and sparing of the periphery. These opacities enlarge and eventually may become confluent later in life.

Three photos from different patients portraying both the "bread crumb" and "rock candy" appearances of the condition.

OMIM #121900, see also *601692

granular dystrophy
photo above by T. Venckus
granular dystrophy
photo above by S. Karakas