Purpose The post-LASIK exacerbation of corneal dystrophy, otherwise asymptomatic, is almost exclusively associated with the TGFBI gene mutations at codon 124 in exon 4 and codon 555 in exon 12. It is our intention to demonstrate that the pre-operative genetic screening for TGFBI mutations should be mandatory for refractive surgery candidates. Patients and Methods In this study, we reviewed the proband’s post-LASIK slit-lamp and in vivo confocal microscopy images and genetic testing results, and performed genetic testing on eleven additional members of the family to investigate the penetrance of corneal dystrophy in asymptomatic members who carry the mutation. Results The proband demonstrated a post-LASIK exacerbation of Granular CornealDystrophy type 2 (GCD2), identified as a TGFBI R124H mutation. Three of the 11 family members tested positive for the same R124H mutation as the proband. Conclusion The lesson learned from this case is that the genetic screening of TGFBI mutations must be incorporated into the preoperative screening procedures to prevent exacerbation and recurrence, which eventuallycould lead to the need for a corneal transplant.
- Corneal Dystrophy