Post-LASIK Exacerbation of Granular Corneal Dystrophy Type 2 in Members of a Chinese Family

Connie Chao-Shern, Rao Me, Lawrence DeDionisio, Bilian Ke, M. Andrew Nesbit, John Marshall, CB Tara Moore

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.
LanguageEnglish
Pages1-5
JournalEYE
Early online date1 Dec 2017
DOIs
Publication statusE-pub ahead of print - 1 Dec 2017

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Laser In Situ Keratomileusis
Genetic Testing
Mutation
Codon
Exons
Preoperative Care
Refractive Surgical Procedures
Penetrance
Confocal Microscopy
Corneal dystrophy Avellino type
Transplants
Recurrence
Genes

Keywords

  • LASIK
  • Corneal Dystrophy

Cite this

Chao-Shern, Connie ; Me, Rao ; DeDionisio, Lawrence ; Ke, Bilian ; Nesbit, M. Andrew ; Marshall, John ; Moore, CB Tara. / Post-LASIK Exacerbation of Granular Corneal Dystrophy Type 2 in Members of a Chinese Family. In: EYE. 2017 ; pp. 1-5.
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abstract = "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.",
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Post-LASIK Exacerbation of Granular Corneal Dystrophy Type 2 in Members of a Chinese Family. / Chao-Shern, Connie; Me, Rao; DeDionisio, Lawrence; Ke, Bilian; Nesbit, M. Andrew; Marshall, John; Moore, CB Tara.

In: EYE, 01.12.2017, p. 1-5.

Research output: Contribution to journalArticle

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AU - Nesbit, M. Andrew

AU - Marshall, John

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AB - 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.

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