Evidence map›Paper›PMID 29192679›Full record

ArticleEye (London, England)2018

Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family.

C Chao-Shern, R Me, L A DeDionisio, B L Ke, M A Nesbit, J Marshall, C B T Moore

Open access · hybridAbstract read
In one paragraph

Article in Eye (London, England), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.9field-weighted citation impact, top 24% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Observational
  3. Article
  4. Article
  5. Article
  6. Mutation-Independent Allele-Specific Editing by CRISPR-Cas9, a Novel Approach to Treat Autosomal Dominant Disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2020
    Article
  7. Transcriptomic analysis of differential gene expression during chick periocular neural crest differentiation into corneal cells.Developmental dynamics : an official publication of the American Association of Anatomists · 2019
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 2 countries.

C Chao-ShernBiomedical Sciences Research Institute, University of Ulster, Coleraine, Northern Ireland, UK.ORCID 0000-0002-2772-9235
R MeDepartment of Ophthalmology, Shanghai First People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
L A DeDionisioAvellino Lab USA, Inc., Menlo Park, CA, USA.
B L KeDepartment of Ophthalmology, Shanghai First People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
M A NesbitBiomedical Sciences Research Institute, University of Ulster, Coleraine, Northern Ireland, UK.
J MarshallInstitute of Ophthalmology, University College of London, London, UK.ORCID 0000-0001-6372-9294
C B T MooreBiomedical Sciences Research Institute, University of Ulster, Coleraine, Northern Ireland, UK.
University of Ulster · GBShanghai First People's Hospital · CNUniversity College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

MutationAdolescentAdultbetaIG-H3 ProteinChildCorneaCorneal Dystrophies, HereditaryDNA Mutational AnalysisExtracellular Matrix ProteinsFemaleGenetic TestingHumansKeratomileusis, Laser In SituMalePedigreePhenotypebetaIG-H3 ProteinExtracellular Matrix ProteinsTransforming Growth Factor beta

Identifiers

PMID29192679
PMCPMC5770725
OpenAlexW2771524097

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.