Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy

Cornea. 2018 May;37(5):554-559. doi: 10.1097/ICO.0000000000001511.


Purpose: To investigate the long-term surgical outcome after penetrating keratoplasty in 5 patients from 1 pedigree with Schnyder corneal dystrophy (SCD), resulting from the same UbiA prenyltransferase domain containing 1 (UBIAD1) mutation.

Methods: This retrospective study involved 6 eyes of 5 patients who underwent penetrating keratoplasty for treatment of SCD. Postoperative surgical outcome measures included the analysis of best-corrected visual acuity (BCVA), corneal endothelial cell density, and the rates of corneal graft rejection and disease recurrence. Genomic DNA was extracted from whole peripheral blood samples obtained from each patient at the time of surgery, and mutation analysis of the UBIAD1 gene was then performed.

Results: All patients were found to have the same G177E mutation in the UBIAD1 gene. Mean patient age at the time of surgery was 61.5 ± 10.4 years (range, 49-72 yrs), and mean postoperative follow-up period was 8.8 ± 3.1 years (range, 3-11 yrs). Preoperatively, BCVA ranged from logarithm of the minimum angle of resolution (logMAR) 1.7 to logMAR 0.22; yet, it was found that BCVA had improved to logMAR 0.02 at 3 years postoperatively. Mean corneal endothelial cell density at 3, 5, and 8 years postoperatively was 2181, 1783, and 910 cells/mm, respectively. In all eyes, no disease recurrence or corneal graft rejection was observed during the follow-up period, and graft transparency was maintained.

Conclusions: Our findings show that the corneal grafts in the reported SCD pedigree remained clear with no rejection or disease recurrence over the long term.

MeSH terms

  • Aged
  • Corneal Dystrophies, Hereditary / genetics
  • Corneal Dystrophies, Hereditary / surgery*
  • DNA Mutational Analysis
  • Dimethylallyltranstransferase / genetics*
  • Female
  • Graft Rejection
  • Humans
  • Keratoplasty, Penetrating*
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Recurrence
  • Retrospective Studies


  • Dimethylallyltranstransferase

Supplementary concepts

  • Corneal Dystrophy, Crystalline, of Schnyder