June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
Cancer Risk in Patients with Fuchs Endothelial Corneal Dystrophy
Author Affiliations & Notes
  • Timothy T. Xu
    Alix School of Medicine, Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Keith H Baratz
    Ophthalmology, Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Michael P Fautsch
    Ophthalmology, Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • David O Hodge
    Health Sciences Research, Mayo Clinic's Campus in Florida, Jacksonville, Florida, United States
  • Michael A Mahr
    Ophthalmology, Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Footnotes
    Commercial Relationships   Timothy Xu, None; Keith Baratz, None; Michael Fautsch, None; David Hodge, None; Michael Mahr, None
  • Footnotes
    Support  NEI Grant EY26490, NEI Grant EY21727, Mayo Foundation Robert R. Waller Career Development Award
Investigative Ophthalmology & Visual Science June 2021, Vol.62, 808. doi:
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    • Get Citation

      Timothy T. Xu, Keith H Baratz, Michael P Fautsch, David O Hodge, Michael A Mahr; Cancer Risk in Patients with Fuchs Endothelial Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2021;62(8):808.

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

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Abstract

Purpose : Fuchs endothelial corneal dystrophy (FECD) is the most common trinucleotide repeat (TNR) expansion disorder, involving a CTG repeat in the widely expressed transcription factor 4 gene. It is unknown whether patients with FECD are at variable risk of systemic disease, but several other TNR expansion disorders such as myotonic dystrophy type 1 are associated with increased cancer risk. We sought to quantify the risk of malignancy in patients with FECD.

Methods : Using the Medicare Limited 5% Data Sets, U.S. Medicare fee-for-service beneficiaries (age ≥65 years old) with FECD and cancer were identified via International Classification of Diseases (ICD), 9th and 10th Revision diagnostic codes from January 1, 2014 to December 31, 2016. Odds ratios (OR) and 95% confidence intervals (95% CI) were calculated to compare risk of various cancers in Medicare beneficiaries with FECD compared to those without FECD. The main outcome measure was OR of cancer at various anatomic locations in patients with and without FECD. In order to evaluate the potentially confounding variable of intensity of medical care between groups, the Charlson comorbidity index for systemic diseases, such as diabetes and cardiovascular disease, was applied.

Results : Of the 1,462,740 beneficiaries in the Medicare Limited 5% Data Set, 15,534 (1.1%) patients had an ICD code for FECD. Compared to U.S. Medicare beneficiaries without FECD, FECD patients were at increased risk for the following malignancies after adjustment for age, sex, race, tobacco use, and Charlson comorbidity index: breast (OR: 1.32; 95% CI: 1.22 to 1.43; p<0.001), cutaneous basal cell (OR: 1.42; 95% CI: 1.35 to 1.49; p<0.001), cutaneous squamous cell (OR: 1.45; 95% CI: 1.38 to 1.53; p<0.001), and ovarian (OR: 1.84; 95% CI: 1.48 to 2.30); p<0.001). Conversely, FECD cases were at decreased risk for lung (OR: 0.81, 95% CI: 0.71 to 0.93, p=0.003) and prostate cancer (OR: 0.88; 95% CI: 0.81 to 0.96; p=0.002).

Conclusions : Patients with FECD ≥65 years old may be at increased risk for cancer at several anatomic locations. Further studies are needed to confirm this association, elucidate potential disease mechanisms, and identify genetic and/or environmental risk factors.

This is a 2021 ARVO Annual Meeting abstract.

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