Amyloid and Pro501Thr-mutated βig-h3 gene product colocalize in lattice corneal dytrophy type IIIA

Purpoe: To ae the relative ditribution in the cornea of amyloid and βig-h3 gene product in lattice corneal dytrophy type IIIA (LCD-IIIA). Method: erial ection from the cornea of a patient with LCD-IIIA were ubjected to either Congo red taining or immunohitochemitry employing an antibody to βig-h3. Alo, genomic DNA wa iolated from peripheral blood and ued a a template for polymerae chain reaction to amplify all exon of βig-h3. Reult: Exon 11 of βig-h3 wa mutated (Pro501Thr). ubepithelial and intratromal congophilic depoit exhibited a birefringency characteritic of amyloid. Thee region of the tiue were alo highly immunoreactive with the antibody to the βig-h3 gene product. Concluion: Amyloid and Pro501Thr-mutated βig-h3 protein accumulate and colocalize in LCD-IIIA.