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 light. Raman spectroscopy showed peculiar differences between normal and GDCD cornea, consisting in peaks either of different height or undetectable in the normal cornea and related to amyloid. The possible causative role of the novel mutation was discussed and Raman spectroscopy as a further morphological tool in the evaluation of corneal dystrophies, characterized by the deposition of abnormal materials, was suggested.
Keywords: Raman spectroscopy; TACSTD2 gene mutation; amyloid deposits; cornea; gelatinous drop-like corneal dystrophy; light microscopy.