Journal article
Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India
R Gupta, B Lal Kumawat, P Paliwal, R Tandon, N Sharma, S Sen, S Kashyap, TC Nag, RB Vajpayee, A Sharma
Molecular Vision | MOLECULAR VISION | Published : 2012
Abstract
Purpose: Fuchs endothelial corneal dystrophy (FECD) results in loss of vision associated with progressive corneal edema and loss of corneal transparency. The aim of the study was to evaluate changes in ZEB1, COL8A2, SLC4A11, and TCF4 rs613872 and correlate them with clinical findings. Methods: Eighty-two patients with clinically diagnosed FECD and 143 controls were recruited during the period 2007–2012. Clinical details, pedigree information up to three generations, and 5 ml of blood samples were collected. Histopathological and transmission electron microscopy studies were performed on host corneal buttons from patients who underwent keratoplasty. Genomic DNA from blood was processed for PC..
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Awarded by Department of Biotechnology (DBT), India
Funding Acknowledgements
The Authors thank the patients for their participation. The study was supported by a financial grant (No. BT/PR6376/MED/12/248/2005) provided by the Department of Biotechnology (DBT), India. None of the authors have any conflict of interest. The article was presented at the Asia ARVO, February 2015 in Yokohama, Japan. Dr Arundhati Sharma (arundhatisharma1@gmail.com) and Dr. Radhika Tandon (radhika_tan@yahoo.com) are co-corresponding authors for this paper.