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0fe1 9a05 Fecd 2025 7d214 A. 240508_a75378_03.jpg Purpose: CTG trinucleotide repeat (TNR) expansion in an intron of the TCF4 gene is the most common genetic variant associated with Fuchs' endothelial corneal dystrophy (FECD) To understand events leading from TCF4 TNR expansion to disease phenotype, we characterized.

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The corneal endothelium (CE) comprises a monolayer of hexagonal corneal endothelial cells (CECs) derived from neural crest cells that arise from the neuroectoderm 1 and rest on a specialized basement membrane called Descemet's membrane (DM) FECD can be inherited as an autosomal dominant trait with genetic heterogeneity

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Mutations in certain genes have been reported in some cases of FECD 25, 49 In vitro FECD models showed that FECD cells rapidly deposit high amounts of fibronectin on the surface of their basement membrane. Rare cases of early onset have been related to mutations in the COL8A2 gene (1p34.2-p32.3).

240617_b76153_01.jpg. 12 Other genes including solute carrier family 4, sodium borate transporter, member 11 (SLC4A11, MIM 610206), transcription factor 8 (TCF8, MIM 189909), lipoxygenase homology. FECD can be inherited as an autosomal dominant trait with genetic heterogeneity

240617_b76153_04.jpg. The etiology of FECD is unknown, but it seems to be a heterogenous complex inherited disorder caused by the interaction of genetic and environmental factors Corneal endothelial cells in FECD are susceptive to oxidative stress, leading to mitochondrial dysfunction and cell death