Bilateral Atypical Granular Corneal Dystrophy Associated with Unilateral Keratoconus in a Male Child

Middle East Afr J Ophthalmol. 2016 Jul-Sep;23(3):262-4. doi: 10.4103/0974-9233.186151.

Abstract

A 14-year-old male presented with decreased vision. Slit lamp examination indicated multiple anterior corneal stromal opacities with clear intervening spaces accompanied with superficial subepithelial lines arranged in a quasi-whorl-like fashion bilateral with greater prominence in the right eye. Corneal steepening associated with thinning was noted only in the right eye. Genetic analysis confirmed a mutation suggestive of granular corneal dystrophy. Here, we describe a rare case of an atypical granular dystrophy associated with unilateral keratoconus in a male child.

Keywords: Granular Corneal Dystrophy; Keratoconus; Subepithelial Lines.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Corneal Dystrophies, Hereditary / diagnosis
  • Corneal Dystrophies, Hereditary / etiology*
  • Corneal Dystrophies, Hereditary / genetics
  • Corneal Topography
  • DNA Mutational Analysis
  • Extracellular Matrix Proteins / genetics
  • Humans
  • Keratoconus / complications*
  • Keratoconus / diagnosis
  • Keratoconus / genetics
  • Male
  • Microscopy, Confocal
  • Mutation, Missense
  • Polymorphism, Single Nucleotide
  • Slit Lamp Microscopy
  • Tomography, Optical Coherence
  • Transforming Growth Factor beta / genetics

Substances

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

Supplementary concepts

  • Groenouw type I corneal dystrophy