6^th Global Ophthalmologists Annual Meeting

Biography

Biography: Debasmita P Alone

Abstract

Fuchs’ endothelial corneal dystrophy (FECD) is a progressive deteriorative condition of corneal endothelial cells that predominantly affects women and onsets in the fourth to fifth decade of life. As an autosomal dominant and heterogeneous disease, FECD displays a peculiar trait of corneal guttata formation and excrescences from the Descemet membrane (DM) which are clinically detected using specular microscopy. So far, many genes have been attributed to cause this disease, thereby revealing its genetic complexity. With respect to Asian ethnicity, not many studies have been done to elucidate demographic specific genetic contributors for the disease. Transcription factor 4 (TCF4), that encodes for E2-2 protein, a group of E protein transcription factors known for cellular growth and differentiation, is one such gene that has been associated with this disease. Our recent study substantiates the fact that the intronic tri-nucleotide repeat expansion in this gene is a major contributing factor for the disease pathogenesis. In search of other genetic signatures for this disease, our recent findings suggest that intronic polymorphisms in TCF8 and FEN1 genes have strong associations with the disease in Indian population. Ours is the first report to identify a polymorphic marker for TCF8 gene in association with FECD, thereby rendering a stronger genetic load upon TCF8 for being a causative agent for the disease. Association of FEN1 vouches for the role of oxidative stress as one of the contributing aspect for the pathogenesis of FECD.