Rare Diseases Symptoms Automatic Extraction

A case of concomitant keratoconus and granular corneal dystrophy type II.

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We report a Korean case of concomitant keratoconus and granular corneal dystrophy type II.Case report.A 29-year-old man visited our clinic for a routine ocular check-up. Slit-lamp examination revealed a few well-circumscribed, greyish-white, discrete granular opacities in the central corneal stromae of both eyes. Direct sequencing of exon 4 of the BIGH3 gene revealed a heterozygous transversion from G to A in the second-nucleotide position of codon 124. In addition, a Fleischer ring and Vogt's striae were evident in the cornea. The corneal topography was suggestive of keratoconus.Granular corneal dystrophy type II can co-exist with keratoconus and should be included in the differential diagnosis.