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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