June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
The Relationship between Triplet Repeats in the TCF4 Gene and Progression of Fuchs Endothelial Corneal Dystrophy over One Year
Author Affiliations & Notes
  • Oliver Dorado Cortez
    Laboratory for Biology, Engineering and Imaging for Ophthalmology, BiiO, Faculty of Medicine, Health & Innovation Campus, Jean Monnet University, Saint-Etienne, France
    Ophthalmology Department, University Hospital, Saint-Etienne, France
  • Emmanuel Crouzet
    Laboratory for Biology, Engineering and Imaging for Ophthalmology, BiiO, Faculty of Medicine, Health & Innovation Campus, Jean Monnet University, Saint-Etienne, France
  • Marie Caroline Trone
    Laboratory for Biology, Engineering and Imaging for Ophthalmology, BiiO, Faculty of Medicine, Health & Innovation Campus, Jean Monnet University, Saint-Etienne, France
    Ophthalmology Department, University Hospital, Saint-Etienne, France
  • Philippe Gain
    Laboratory for Biology, Engineering and Imaging for Ophthalmology, BiiO, Faculty of Medicine, Health & Innovation Campus, Jean Monnet University, Saint-Etienne, France
    Ophthalmology Department, University Hospital, Saint-Etienne, France
  • Zhiguo HE
    Laboratory for Biology, Engineering and Imaging for Ophthalmology, BiiO, Faculty of Medicine, Health & Innovation Campus, Jean Monnet University, Saint-Etienne, France
  • Hanielle Vaitinadapoule
    Laboratory for Biology, Engineering and Imaging for Ophthalmology, BiiO, Faculty of Medicine, Health & Innovation Campus, Jean Monnet University, Saint-Etienne, France
  • Marielle Mentek
    Laboratory for Biology, Engineering and Imaging for Ophthalmology, BiiO, Faculty of Medicine, Health & Innovation Campus, Jean Monnet University, Saint-Etienne, France
  • Frédéric Mascarelli
    Laboratory for Biology, Engineering and Imaging for Ophthalmology, BiiO, Faculty of Medicine, Health & Innovation Campus, Jean Monnet University, Saint-Etienne, France
    Centre de Recherche des Cordeliers, Paris, Île-de-France, France
  • Sylvain POINARD
    Laboratory for Biology, Engineering and Imaging for Ophthalmology, BiiO, Faculty of Medicine, Health & Innovation Campus, Jean Monnet University, Saint-Etienne, France
    Ophthalmology Department, University Hospital, Saint-Etienne, France
  • Go Nishiuchi
    Department of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University, Kyoto, Japan
  • Mari Yasunaga
    Department of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University, Kyoto, Japan
  • Noriko Koizumi
    Department of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University, Kyoto, Japan
  • Naoki Okumura
    Department of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University, Kyoto, Japan
  • Gilles Thuret
    Laboratory for Biology, Engineering and Imaging for Ophthalmology, BiiO, Faculty of Medicine, Health & Innovation Campus, Jean Monnet University, Saint-Etienne, France
    Ophthalmology Department, University Hospital, Saint-Etienne, France
  • Footnotes
    Commercial Relationships   Oliver Dorado Cortez None; Emmanuel Crouzet None; Marie Caroline Trone None; Philippe Gain None; Zhiguo HE None; Hanielle Vaitinadapoule None; Marielle Mentek None; Frédéric Mascarelli None; Sylvain POINARD None; Go Nishiuchi None; Mari Yasunaga None; Noriko Koizumi None; Naoki Okumura None; Gilles Thuret None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 619. doi:
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    • Get Citation

      Oliver Dorado Cortez, Emmanuel Crouzet, Marie Caroline Trone, Philippe Gain, Zhiguo HE, Hanielle Vaitinadapoule, Marielle Mentek, Frédéric Mascarelli, Sylvain POINARD, Go Nishiuchi, Mari Yasunaga, Noriko Koizumi, Naoki Okumura, Gilles Thuret; The Relationship between Triplet Repeats in the TCF4 Gene and Progression of Fuchs Endothelial Corneal Dystrophy over One Year. Invest. Ophthalmol. Vis. Sci. 2023;64(8):619.

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

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Abstract

Purpose : Among the genetic abnormalities associated with Fuchs endothelial corneal dystrophy (FECD), CTG triplet repeats in the TCF4 gene are by far the most frequent. We conducted a prospective study with a one-year follow-up to determine whether the clinical and paraclinical course of FECD over one year is related to the extent of triplet repetition in the TCF4 gene.

Methods : One hundred and four patients (160 eyes) with FECD and the same number of age- and sex-matched control subjects without FECD were included in this study. At inclusion, the corneas were graded according to the modified Krachmer grade (KG), and the patients were genotyped for the number of trinucleotide repeats (TNRs) in the TCF4 gene by short tandem repeat assay. Visual acuity, Scheimpflug tomography (displacement of the thinnest point, posterior focal depression, and loss of regular isopaches as defined as the Mayo score), and the V-Fuchs Quality of Life Scale were measured on two visits at one-year intervals. The main outcome measures were ETDRS visual acuity without and with glare, Scheimpflug tomography at baseline and after one year of natural course. The secondary outcomes were wake-up and visit times, number of TNRs in the TCF4 gene, and the results of the V-Fuchs Quality of Life Scale.

Results : The KGs ranged from 1 to 6, and 46% of the eyes were grade 1–4. The percentage of patients who harbored TNR expansion (> 40) in the TCF4 gene was 71.1% in the patients with FECD and 12.6% in the non-FECD control. Severity at inclusion was higher in the presence of TNR when considering eyes independently (mean grade ± standard deviation: 4.08 ± 1.42) without TNR and 4.66 ± 1.27 with TNR (p=.024), but it was not higher when considering patients. In one year, the ETDRS score significantly decreased by –2.8 ± 8.3 and the EDTRS score with glare by –4.3 ± 9.9. There was no relationship between the rate of decline and TNR or grade. We did not find a significant worsening of the Mayo score over one year. The V-Fuchs scores did not significantly vary.

Conclusions : It is possible to measure a clinical progression of this chronic and slow disease over a period as short as one year, but the variations are subtle. We did not find a relationship between the number of TNRs and the speed of deterioration over one year. This work should facilitate the design of future clinical trials on FECD.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

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