Clinical findings and treatments of granular corneal dystrophy type 2 (avellino corneal dystrophy): a review of the literature

Eye Contact Lens. 2010 Sep;36(5):296-9. doi: 10.1097/ICL.0b013e3181ef0da0.

Abstract

Objectives: To review the literature about clinical findings and treatments of granular corneal dystrophy type 2 (GCD2).

Methods: Various literatures on clinical findings, exacerbations after refractive corneal surgery, and treatment modalities of GCD2 were reviewed.

Results: GCD2 is an autosomal dominant disease. Mutation of transforming growth factor beta-induced gene, TGFBI, or keratoepithelin gene in human chromosome 5 (5q31) is the key pathogenic process in patient with GCD2. Corneal trauma activates TGFBI and then it overproduces transforming growth factor beta-induced gene protein (TGFBIp), which is main component of the corneal opacity. Refractive corneal surgery is a popular procedure to correct refractive error worldwide. However, several cases about exacerbation of GCD2 after corneal refractive surgery such as photorefractive keratectomy, laser in situ keratomileusis, and laser epithelial keratomileusis have been reported. The opacities deteriorate patient's best-corrected visual acuity. Recurrence-free interval varies many factors such as the type of procedure the patient had received and the genotype of the patient. To treat the opacities in GCD2, phototherapeutic keratectomy, lamellar keratoplasty, deep lamellar keratoplasty, and penetrating keratoplasty (PKP) were used. However, the recurrence is still an unsolved problem.

Conclusions: Perfect treatment of exacerbation after corneal surface ablation does not exist until now. To prevent exacerbation, refractive surgeons must do a careful preoperative examination of candidates in refractive surgeries.

Publication types

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

MeSH terms

  • Chromosomes, Human, Pair 5
  • Contraindications
  • Cornea / surgery
  • Corneal Dystrophies, Hereditary / genetics*
  • Corneal Dystrophies, Hereditary / pathology
  • Corneal Dystrophies, Hereditary / surgery*
  • Corneal Transplantation
  • Extracellular Matrix Proteins / genetics*
  • Humans
  • Keratomileusis, Laser In Situ
  • Lens Implantation, Intraocular
  • Mitomycin / therapeutic use
  • Mutation*
  • Phacoemulsification
  • Photorefractive Keratectomy / adverse effects
  • Postoperative Complications / prevention & control
  • Recurrence
  • Refractive Surgical Procedures* / adverse effects
  • Transforming Growth Factor beta / genetics*

Substances

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