A case of concomitant keratoconus and granular corneal dystrophy type II

Cont Lens Anterior Eye. 2014 Aug;37(4):314-6. doi: 10.1016/j.clae.2014.02.001. Epub 2014 Feb 28.

Abstract

Purpose: We report a Korean case of concomitant keratoconus and granular corneal dystrophy type II.

Methods: Case report.

Results: 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.

Conclusion: Granular corneal dystrophy type II can co-exist with keratoconus and should be included in the differential diagnosis.

Keywords: BIGH3; Corneal topography; Granular corneal dystrophy; Keratoconus.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Corneal Dystrophies, Hereditary / complications
  • Corneal Dystrophies, Hereditary / diagnosis*
  • Corneal Dystrophies, Hereditary / genetics*
  • Corneal Topography*
  • Extracellular Matrix Proteins / genetics*
  • Humans
  • Keratoconus / complications
  • Keratoconus / diagnosis*
  • Keratoconus / genetics*
  • Male
  • Polymorphism, Single Nucleotide / genetics*
  • Transforming Growth Factor beta / genetics*

Substances

  • Extracellular Matrix Proteins
  • Transforming Growth Factor beta
  • betaIG-H3 protein

Supplementary concepts

  • Corneal dystrophy Avellino type