Abstract
Abstract Purpose To provide an overview of progress in understanding of the genetics of corneal dystrophies. Methods A systematic review, including case presentations, to illustrate insights into genes underlying inherited corneal dystrophies: Results Recent advances have extended our undestanding of the causation of a range of classical inherited corneal dystrophies. This includes the identifcation of genes underlying superficial (e.g Meesmann, KRT3/KRT12), stromal (BIGH3/TGFB1) and endothelial (SLC4A11, COL8A2) dysrophies. Understanding of less well‐recognised phenotypes (e.g brittle cornea syndrome) has also shed light on the regulation of corneal homeostasis including the control of corneal thickness. Conclusion Identification of the genes underlying corneal inherited disease improves diagnosis of corneal dysrophies, sheds light on disease mechanisms and has potential to improve patient management. In the futuire this will lead to new therapeutic modalities for an important group of conditions associated with significant visual loss.
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