Different recurrence patterns after phototherapeutic keratectomy in the corneal dystrophy resulting from homozygous and heterozygous R124H BIG-H3 mutation

Am J Ophthalmol. 2001 Aug;132(2):255-7. doi: 10.1016/s0002-9394(01)00824-8.

Abstract

Purpose: To report the recurrence pattern of corneal deposits after phototherapeutic keratectomy in patients with corneal dystrophies resulting from homozygous and heterozygous Arg124His (R124H) mutation of the BIG-H3 gene.

Methods: Slit-lamp examination was performed on patients with corneal dystrophy resulting from a genetically confirmed BIG-H3 R124H mutation.

Results: The recurrence of corneal deposits after phototherapeutic keratectomy in patient with heterozygous R124H mutation was mild; the granular opacities occurred as spot lesions in the central cornea. The patient with a homozygous mutation had a more severe pattern, and the recurrent lesions were diffuse and occurred in the periphery between the corneal epithelium and laser-ablated stroma. The recurrence-free interval in homozygous patients was shorter.

Conclusion: The mutation genotype of BIG-H3 gene determines the recurrence pattern after phototherapeutic keratectomy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Corneal Dystrophies, Hereditary / etiology
  • Corneal Dystrophies, Hereditary / genetics
  • Corneal Dystrophies, Hereditary / pathology*
  • Corneal Opacity / etiology
  • Corneal Opacity / genetics
  • Corneal Opacity / pathology*
  • Extracellular Matrix Proteins*
  • Female
  • Humans
  • Lasers, Excimer
  • Male
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Photorefractive Keratectomy / adverse effects*
  • Point Mutation*
  • Recurrence
  • Transforming Growth Factor beta*
  • Visual Acuity

Substances

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