July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Relationship of severity of Fuchs endothelial corneal dystrophy with triplet repeat expansion in TCF4 and The Potential Implications to Surgical Intervention
Author Affiliations & Notes
  • Kirithika Muthusamy
    Cornea and External Disease, Moorfields Eye Hospital, London, United Kingdom
    Institute of Ophthalmology, University College London, London, United Kingdom
  • Beatriz Sanchez-Pintado
    Institute of Ophthalmology, University College London, London, United Kingdom
  • Nathaniel Hafford Tear
    Institute of Ophthalmology, University College London, London, United Kingdom
  • Petra Liskova
    Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague,, Charles University, Prague, Prague, Czechia
    Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital , Prague, Czechia
  • Peter S Adamson
    Institute of Ophthalmology, University College London, London, United Kingdom
  • Alison J Hardcastle
    Institute of Ophthalmology, University College London, London, United Kingdom
  • Alice E Davidson
    Institute of Ophthalmology, University College London, London, United Kingdom
  • Stephen J. Tuft
    Institute of Ophthalmology, University College London, London, United Kingdom
    Cornea and External Disease, Moorfields Eye Hospital, London, United Kingdom
  • Footnotes
    Commercial Relationships   Kirithika Muthusamy, None; Beatriz Sanchez-Pintado, None; Nathaniel Hafford Tear, None; Petra Liskova, None; Peter Adamson, None; Alison Hardcastle, None; Alice Davidson, None; Stephen Tuft, None
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 2920. doi:
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      Kirithika Muthusamy, Beatriz Sanchez-Pintado, Nathaniel Hafford Tear, Petra Liskova, Peter S Adamson, Alison J Hardcastle, Alice E Davidson, Stephen J. Tuft; Relationship of severity of Fuchs endothelial corneal dystrophy with triplet repeat expansion in TCF4 and The Potential Implications to Surgical Intervention. Invest. Ophthalmol. Vis. Sci. 2018;59(9):2920.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To determine whether the TCF4 CTG18.1 expansion influences the severity of Fuchs endothelial corneal dystrophy (FECD) and to correlate the presence of CTG18.1 triplet repeat expansions (≥50 repeats) with risk of keratoplasty and risk of corneal oedema following cataract surgery.

Methods : 286 patients were enrolled in a longitudinal study of FECD, defined as central guttae, seen on slit-lamp biomicroscopy, corneal oedema and/or keratoplasty for FECD in both eyes. CTG18.1 was genotyped using a short tandem repeat assay. Genotype status was correlated with previous keratoplasty and previous cataract surgery history. A positive expansion was defined as eaqual to or greater than 50 CTG repeats.

Results : 219 (76.6%) of 286 FECD patients investigated had at least one expanded copy (≥ 50 repeats) of the CTG18.1 allele. A higher proportion of individuals with an allele expansion had undergone keratoplasty (87.2%) compared with those without the expanded allele (79.1%). However, this finding was not statistically significant (p=0.39). We also observed that in 125 phakic FECD patients with no antecedent risk of cataract surgery, the relationship between repeat length and requirement of keratoplasty was not significant (p=0.89).

Conclusions : We present a genotype – phenotype correlation of expanded CTG 18.1 genotype status and surgical intervention in a UK FECD population. Results suggest that an expanded CTG18.1 repeat is not a major risk for severity of disease when defined as prevalence of keratoplasty. The study will guide our longitudinal study of a larger cohort.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

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