Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Sep;101(6):679-686.
doi: 10.1111/aos.15654. Epub 2023 Mar 7.

Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy

Siyin Liu  1   2 , Amanda N Sadan  2 , Kirithika Muthusamy  2   3 , Christina Zarouchlioti  2 , Jana Jedlickova  4 , Nikolas Pontikos  2 , Caroline Thaung  2   3 , Alison J Hardcastle  2 , Magdalena Netukova  5 , Pavlina Skalicka  4   6 , Lubica Dudakova  4 , Catey Bunce  2   3 , Stephen J Tuft  2   3 , Alice E Davidson  2 , Petra Liskova  2   4   6
Affiliations
Free article

Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy

Siyin Liu et al. Acta Ophthalmol. 2023 Sep.
Free article

Abstract

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.

Keywords: TCF4; CTG18.1; Fuchs endothelial corneal dystrophy; cornea; keratoconus.

PubMed Disclaimer

References

REFERENCES

    1. Afshari, N.A., Igo, R.P., Jr., Morris, N.J., Stambolian, D., Sharma, S., Pulagam, V.L. et al. (2017) Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. Nature Communications, 8, 14898.
    1. Alnawaiseh, M., Rosentreter, A., Eter, N. & Zumhagen, L. (2016) Changes in corneal refractive power for patients with Fuchs endothelial dystrophy after DMEK. Cornea, 35, 1073-1077.
    1. Arnalich-Montiel, F., Mingo-Botín, D. & Diaz-Montealegre, A. (2019) Keratometric, Pachymetric, and surface elevation characterization of corneas with Fuchs endothelial corneal dystrophy treated with DMEK. Cornea, 38, 535-541.
    1. Chan, E., Chong, E.W., Lingham, G., Stevenson, L.J., Sanfilippo, P.G., Hewitt, A.W. et al. (2021) Prevalence of keratoconus based on Scheimpflug imaging: the Raine study. Ophthalmology, 128, 515-521.
    1. Davidson, A.E., Hayes, S., Hardcastle, A.J. & Tuft, S.J. (2014) The pathogenesis of keratoconus. Eye, 28, 189-195.

MeSH terms

Substances

LinkOut - more resources