Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis

Am J Ophthalmol. 2004 Mar;137(3):586-8. doi: 10.1016/j.ajo.2003.09.003.

Abstract

Purpose: To describe a Japanese patient with lattice corneal dystrophy type I (LCD I) who lacked the typical lattice lines.

Design: Interventional case report.

Methods: A complete ophthalmologic examination was performed on a 54-year-old woman, and the TGFBI gene was analyzed by direct genomic sequencing.

Results: The patient had diffuse opacification of the central corneal stroma but without lattice lines and corneal epithelial erosions bilaterally. Molecular genetic analysis identified a lattice corneal dystrophy I-associated heterozygous missense alteration (C417T) that changed arginine in codon 124 to cysteine (R124C) in the TGFBI gene.

Conclusions: The cornea of the patient appeared to represent late-stage lattice corneal dystrophy I, which suggests the existence of interactions of modifier genes, environmental factors during corneal aging, or both. The molecular genetic analysis of TGFBI can offer rapid, accurate diagnosis of patients with atypical corneal appearance.

Publication types

  • Case Reports

MeSH terms

  • Corneal Dystrophies, Hereditary / diagnosis
  • Corneal Dystrophies, Hereditary / genetics*
  • Corneal Opacity / diagnosis
  • Corneal Opacity / genetics
  • Corneal Stroma / pathology
  • DNA Mutational Analysis
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Humans
  • Middle Aged
  • Mutation, Missense*
  • Transforming Growth Factor beta / genetics*
  • Visual Acuity

Substances

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