University of Iowa Health Care

Ophthalmology and Visual Sciences

Granular corneal dystrophy

Contributor: David Phillips, MD

Photographer: Toni Venckus, CRA

This 30-year-old Chinese female presented for evaluation of granular corneal dystrophy. She had a strong family history of cornea problems suggesting an autosomal dominant inheritance which supported the diagnosis of BIGH3 (Transforming Growth Factor Beta 1 gene, TGFβ1) related disease. Vision was 20/20 in both eyes.

Slit lamp photos demonstrate gray-white breadcrumb-like opacities in the anterior cornea of both eyes, which is classic for granular dystrophy.

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Granular corneal dystrophy type 1

Granular corneal dystrophy type 1

OCT, Granular corneal dystrophy type 1

see more Granular corneal dystrophy type 1

OMIM #121900, see also *601692

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last updated: 3/21/2014
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