Raman Spectroscopic Study of Amyloid Deposits in Gelatinous Drop-like Corneal Dystrophy.

ABSTRACT: The genetic and histopathological features of the cornea of a Polish patient with Gelatinous Drop-like Corneal Dystrophy (GDCD) and the molecular composition with Raman spectroscopy of corneal deposits were examined. A 62 year-old Polish woman was diagnosed with GDCD and underwent penetrating corneal transplant. A blood sample was collected, and genetic analysis was performed. The cornea was processed for light microscopy and Raman analysis. The genetic exam revealed a previously undescribed homozygous 1-base pair deletion in exon 1 of TACSTD2 gene (c.185delT), resulting in a frame shift causing a premature stop codon. When compared with a control cornea, in GDCD cornea stained with PAS evident deposits were present over the anterior stroma, with apple green birefringence under polarized l

SUBMITTER: Acri G 

PROVIDER: S-EPMC8911144 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature