Abstract

Fuchs endothelial corneal dystrophy (FECD) is a bilateral inherited eye disease with advanced forms only treatable by corneal transplantation. The pathogenesis of FECD has not been worked out yet, however, trinucleotide repeat polymorphism CTG18.1 in the TCF4 gene has recently been associated with late-onset FECD. Gene expression profiling of corneal endothelium with and without this expansion can help elucidate molecular mechanisms of the disease development. Current data article represents whole transcriptome profiles of corneal endothelium obtained from 12 patients with FECD and 6 control tissues from eye bank donors. RNA sequencing data is available at NCBI Sequence Read Archive under Accession No. PRJNA524323. In addition, each patient and donor were genotyped for CTG18.1 expansion and the corresponding numbers of CTG repeats in the TCF4 gene are provided within this article. The dataset includes samples from FECD patients both with and without CTG18.1 expansion.

Highlights

  • Fuchs endothelial corneal dystrophy (FECD) is a bilateral inherited eye disease with advanced forms only treatable by corneal transplantation

  • The pathogenesis of FECD has not been worked out yet, trinucleotide repeat polymorphism CTG18.1 in the TCF4 gene has recently been associated with late-onset FECD

  • Current data article represents whole transcriptome profiles of corneal endothelium obtained from 12 patients with FECD and 6 control tissues from eye bank donors

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Summary

Collection of tissue and blood samples from FECD patients

Samples of corneal endothelium were obtained from patients diagnosed with FECD and undergoing corneal transplantation at The S. ОD FECD stage III Complicated cataract 503 f simultaneous simultaneous simultaneous simultaneous simultaneous 22 months simultaneous 13 months simultaneous simultaneous simultaneous simultaneous a The cataract was classified as complicated if the patient had any other concomitant eye disease, which was FECD for all patients from this sample group. Number of repeats in larger TCF4 allele tissue samples collected from patients with FECD. During the endothelial keratoplasty procedure, circular descemetorhexis with a diameter of 7e8 mm was performed using a special hook to obtain samples of corneal endothelium/Descemet's membrane (CEC-DM) complex. Venous blood (4e6 mL) was collected from each patient into vacutainer tubes with EDTA (Becton Dickinson, USA). Blood samples were stored at À20 C prior to DNA extraction

Collection of control tissue samples from donors
CEC density measurement
DNA extraction
Genotyping
RNA extraction
Findings
Transcriptome library preparation and sequencing
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