Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA.
case_report · Level V
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Abstract
To assess the relative distribution in the cornea of amyloid and (beta)ig-h3 gene product in lattice corneal dystrophy type IIIA (LCD-IIIA). Serial sections from the cornea of a patient with LCD-IIIA were subjected to either Congo red staining or immunohistochemistry employing an antibody to (beta)ig-h3. Also, genomic DNA was isolated from peripheral blood and used as a template for polymerase chain reaction to amplify all exons of (beta)ig-h3. Exon 11 of (beta)ig-h3 was mutated (Pro501Thr). Subepithelial and intrastromal congophilic deposits exhibited a birefringency characteristic of amyloid. These regions of the tissue were also highly immunoreactive with the antibody to the (beta)ig-h3 gene product. Amyloid and Pro501Thr-mutated (beta)ig-h3 protein accumulate and colocalize in LCD-IIIA.
Medical subject headings
- Amyloid
- Corneal Dystrophies, Hereditary
- Extracellular Matrix Proteins
- Neoplasm Proteins
- Point Mutation
- Transforming Growth Factor beta