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Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy
S. Liu, AN. Sadan, K. Muthusamy, C. Zarouchlioti, J. Jedlickova, N. Pontikos, C. Thaung, AJ. Hardcastle, M. Netukova, P. Skalicka, L. Dudakova, C. Bunce, SJ. Tuft, AE. Davidson, P. Liskova
Language English Country England, Great Britain
Document type Journal Article
Grant support
GACR 20-19278S
Czech Republic Cooperation Program - Medical Diagnostics and Basic Medical Sciences
SVV 2016/260148
Czech Republic Cooperation Program - Medical Diagnostics and Basic Medical Sciences
MR/S031820/1
Medical Research Council - United Kingdom
MR/S031820/1
UKRI Future Leader Fellowship
UNCE/MED/007
Czech Republic Cooperation Program - Medical Diagnostics and Basic Medical Sciences
NLK
Free Medical Journals
from 2008 to 1 year ago
Medline Complete (EBSCOhost)
from 2008-02-01 to 1 year ago
Wiley Free Content
from 2008 to 1 year ago
PubMed
36883248
DOI
10.1111/aos.15654
Knihovny.cz E-resources
- MeSH
- Phenotype MeSH
- Fuchs' Endothelial Dystrophy * complications diagnosis genetics MeSH
- Genotype MeSH
- Keratoconus * complications diagnosis genetics MeSH
- Humans MeSH
- Retrospective Studies MeSH
- Transcription Factor 4 genetics MeSH
- Basic Helix-Loop-Helix Leucine Zipper Transcription Factors genetics MeSH
- Transcription Factors genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
PURPOSE: To characterise the phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy (KC + FECD). METHODS: We recruited 20 patients with concurrent KC + FECD for a retrospective observational case series from the United Kingdom and the Czech Republic. We compared eight parameters of corneal shape (Pentacam, Oculus) with two groups of age-matched controls who had either isolated keratoconus (KC) or isolated FECD. We genotyped probands for an intronic triplet TCF4 repeat expansion (CTG18.1) and the ZEB1 variant c.1920G >T p.(Gln640His). RESULTS: The median age at diagnosis of patients with KC + FECD was 54 (interquartile range 46 to 66) years, with no evidence of KC progression (median follow-up 84 months, range 12 to 120 months). The mean (standard deviation (SD)) of the minimum corneal thickness, 493 (62.7) μm, was greater than eyes with KC, 458 (51.1) μm, but less than eyes with FECD, 590 (55.6) μm. Seven other parameters of corneal shape were more like KC than FECD. Seven (35%) probands with KC + FECD had a TCF4 repeat expansion of ≥50 compared to five controls with isolated FECD. The average of the largest TCF4 expansion in cases with KC + FECD (46 repeats, SD 36 repeats) was similar to the age-matched controls with isolated FECD (36 repeats, SD 28 repeats; p = 0.299). No patient with KC + FECD harboured the ZEB1 variant. CONCLUSIONS: The KC + FECD phenotype is consistent with KC but with superimposed stromal swelling from endothelial disease. The proportion of cases with a TCF4 expansion is similar in concurrent KC + FECD and age-matched controls with isolated FECD.
Manchester Royal Eye Hospital Manchester University NHS Foundation Trust Manchester UK
References provided by Crossref.org
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