Eye, Granular corneal dystrophy [LMP72506]

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Diagnostic Modality: 
Whole Slide Image
Disease Category: 
Genetic Disorders
Diagnosis: 
Granular corneal dystrophy
Species: 
Human
Organ System: 
Eye
Gender: 
Male
Age: 
59 years
Diagnosis Code: 
ICD-10: H18.5
Slide Contributor Information
Gao, A., Kiehl, TR.

Keywords

cornea, epithelial-stromal dystrophy, TGFBI

Clinical History

59-year-old man with visual impairment.

Clinical Discussion

Corneal dystrophies are a diverse group of hereditary, usually bilateral, slowly progressive disorders characterized by protein deposition in the cornea leading to opacification. Granular corneal dystrophy (GCD) belongs to the category of epithelial-stromal TGFBI dystrophies, a group of dystrophies that involve the corneal epithelium and stroma and are caused by mutations in TGFBI (transforming growth factor beta induced; keratoepithelin). Microscopically, GCD shows the presence of hyaline deposits that may extend from the deep epithelium to Descemet membrane. These hyaline deposits stain red with Masson's trichrome (see Related Content) and are negative for other histochemical stains such as PAS, Alcian blue/Hale’s colloidal iron, and Congo red, which helps to distinguish GCD from other dystrophies. The deposits are immunoreactive for keratoepithelin. Treatment ranges from phototherapeutic keratectomy (laser) to corneal transplantation, with generally good outcomes.

Related Content

Masson's trichrome stain