Presence Of Fibrillar Layer In Advanced Fuchs Endothelial Corneal Dystrophy Correlates With The Presence Of Ctg18.1 Trinucleotide Expansion In Tcf4
Published 2025 - 43rd Congress of the ESCRS
Reference: PO518 | Type: Free paper | DOI: 10.82333/7sf5-fn30
Authors: Do Young Kim 1 , Ella Seo Yeon Park 1 , Hyunjin Park 1 , Bo Yi Kim 2 , Ikhyun Jun 1 , Kyoung Yul Seo 1 , Tae-im Kim* 1
1Department of Ophthalmology,Yonsei University College of Medicine,Seoul,Korea, Republic Of, 2Department of Refractive Surgery,B&VIIT Eye Center,Seoul,Korea, Republic Of
Purpose
To evaluate the CTG18.1 TCF4 trinucleotide expansion status and prevalence of the fibrillar layer in patients with advanced Fuchs Endothelial Corneal Dystrophy
Setting
Department of Ophthalmology, University Hospital Cologne, Germany, tertiary referral center.
Methods
In the retrospective case control study, 441 patients with advanced Fuchs Endothelial Corneal Dystrophy were tested for the CTG18.1 expansion status in TCF. Patients with glaucoma were excluded. Outcome measures included the pachymetry, the presence of a fibrillar layer on densitometry images on the Scheimpflug Pentacam. Only densitometry images with the quality score “OK” were included. The central pachymetry was analysed. Outcomes were investigated for the total group and phakic (n=205) and pseudophakic (n=236) patients separately.
Results
Age at inclusion ranged from 40.5 and 94.5 years (68.2 ±9.6), within the no CTG18.1 expansion group from 46.9–84.8 years (66.1 ±9.1), the group with one allele expanded 40.5–94.5 years (68.9 ±9.5), and two alleles expanded 41.7–84.1 years (62.9 ±10.0), p=0.001. The percentage of patients with a fibrillar layer (FL) increased from n=34 (75.6%) in the no expansion group to 86.5% in the one allele expanded group, and 100% in the two alleles expanded group (p=0.026). Statistical significance was only observed in phakic eyes (p=0.043, right; p=0.039, left), not in pseudophakic (p=0.532; right; p=0.17 left) eyes. Mean central pachymetry was significantly higher in FL positives (629.8µm±69.8) compared to the FL negatives (591.5µm±48.2); p<0.001.
Conclusions
In our FECD cohort, CTG18.1 expansion of one allele was most common, while expansion of two alleles was rarer, followed by no expansion. The majority of patients with an expansion of one or two alleles exhibited a fibrillar layer. Age was highest in the group with one expanded allele, followed by the two-allele expansion and no expansion group. We confirm a previous finding of our group that the presence of a Fibrillar Layer correlates with increased corneal thickness. Future studies are needed to explore the role of the fibrillar layer and CTG18.1 expansion in disease severity and clinical decision making in Fuchs Endothelial Corneal Dystrophy.