Chao-Shern, C;
Me, R;
DeDionisio, LA;
Ke, BL;
Nesbit, MA;
Marshall, J;
Moore, CBT;
(2017)
Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family.
Eye
10.1038/eye.2017.265.
(In press).
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Abstract
PurposeThe 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 MethodsIn 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.ResultsThe proband demonstrated a post-LASIK exacerbation of Granular Corneal Dystrophy 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.ConclusionThe lesson learned from this case is that the genetic screening of TGFBI mutations must be incorporated into the pre-operative screening procedures to prevent exacerbation and recurrence, which eventually could lead to the need for a corneal transplant.Eye advance online publication, 1 December 2017; doi:10.1038/eye.2017.265.
| Type: | Article |
|---|---|
| Title: | Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/eye.2017.265 |
| Publisher version: | https://doi.org/10.1038/eye.2017.265 |
| Language: | English |
| Additional information: | This work is licensed under a Creative Commons Attribution-NonCommercialNoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Keywords: | Corneal diseases, Mutation |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10040596 |
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